psui3905/ncbi_genes_summary huggingface dataset:
ELOC, Official Symbol ELOCprovided by HGNC Official Full Name elongin Cprovided by HGNC Primary source HGNC:HGNC:11617 See related Ensembl:ENSG00000154582 MIM:600788; AllianceGenome:HGNC:11617 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SIII; TCEB1 Summary This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in testis (RPKM 15.6), brain (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
ELOCP10, Official Symbol ELOCP10provided by HGNC Official Full Name elongin C pseudogene 10provided by HGNC Primary source HGNC:HGNC:38146 See related Ensembl:ENSG00000234081 AllianceGenome:HGNC:38146 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P10
ELOCP11, Official Symbol ELOCP11provided by HGNC Official Full Name elongin C pseudogene 11provided by HGNC Primary source HGNC:HGNC:38147 See related Ensembl:ENSG00000227867 AllianceGenome:HGNC:38147 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P11
ELOCP12, Official Symbol ELOCP12provided by HGNC Official Full Name elongin C pseudogene 12provided by HGNC Primary source HGNC:HGNC:38148 See related Ensembl:ENSG00000230412 AllianceGenome:HGNC:38148 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P12
ELOCP13, Official Symbol ELOCP13provided by HGNC Official Full Name elongin C pseudogene 13provided by HGNC Primary source HGNC:HGNC:38149 See related Ensembl:ENSG00000225716 AllianceGenome:HGNC:38149 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P13
ELOCP15, Official Symbol ELOCP15provided by HGNC Official Full Name elongin C pseudogene 15provided by HGNC Primary source HGNC:HGNC:38151 See related Ensembl:ENSG00000232029 AllianceGenome:HGNC:38151 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P15
ELOCP16, Official Symbol ELOCP16provided by HGNC Official Full Name elongin C pseudogene 16provided by HGNC Primary source HGNC:HGNC:38152 See related Ensembl:ENSG00000227915 AllianceGenome:HGNC:38152 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P16
ELOCP17, Official Symbol ELOCP17provided by HGNC Official Full Name elongin C pseudogene 17provided by HGNC Primary source HGNC:HGNC:38153 See related Ensembl:ENSG00000232695 AllianceGenome:HGNC:38153 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P17
ELOCP18, Official Symbol ELOCP18provided by HGNC Official Full Name elongin C pseudogene 18provided by HGNC Primary source HGNC:HGNC:38154 See related Ensembl:ENSG00000237622 AllianceGenome:HGNC:38154 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P18
ELOCP21, Official Symbol ELOCP21provided by HGNC Official Full Name elongin C pseudogene 21provided by HGNC Primary source HGNC:HGNC:38157 See related AllianceGenome:HGNC:38157 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P21
ELOCP22, Official Symbol ELOCP22provided by HGNC Official Full Name elongin C pseudogene 22provided by HGNC Primary source HGNC:HGNC:38158 See related Ensembl:ENSG00000255006 AllianceGenome:HGNC:38158 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P22
ELOCP23, Official Symbol ELOCP23provided by HGNC Official Full Name elongin C pseudogene 23provided by HGNC Primary source HGNC:HGNC:38159 See related Ensembl:ENSG00000224686 AllianceGenome:HGNC:38159 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P23
ELOCP24, Official Symbol ELOCP24provided by HGNC Official Full Name elongin C pseudogene 24provided by HGNC Primary source HGNC:HGNC:38160 See related Ensembl:ENSG00000228410 Ensembl:ENSG00000292367 AllianceGenome:HGNC:38160 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P24; TCEB1P25
ELOCP26, Official Symbol ELOCP26provided by HGNC Official Full Name elongin C pseudogene 26provided by HGNC Primary source HGNC:HGNC:38731 See related AllianceGenome:HGNC:38731 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ELOC26; TCEB1P26
ELOCP30, Official Symbol ELOCP30provided by HGNC Official Full Name elongin C pseudogene 30provided by HGNC Primary source HGNC:HGNC:49171 See related AllianceGenome:HGNC:49171 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P30
ELOCP31, Official Symbol ELOCP31provided by HGNC Official Full Name elongin C pseudogene 31provided by HGNC Primary source HGNC:HGNC:49172 See related Ensembl:ENSG00000256021 AllianceGenome:HGNC:49172 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P31
ELOCP34, Official Symbol ELOCP34provided by HGNC Official Full Name elongin C pseudogene 34provided by HGNC Primary source HGNC:HGNC:49175 See related Ensembl:ENSG00000270535 AllianceGenome:HGNC:49175 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P34
ELOCP35, Official Symbol ELOCP35provided by HGNC Official Full Name elongin C pseudogene 35provided by HGNC Primary source HGNC:HGNC:49176 See related Ensembl:ENSG00000271595 AllianceGenome:HGNC:49176 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P35
ELOCP4, Official Symbol ELOCP4provided by HGNC Official Full Name elongin C pseudogene 4provided by HGNC Primary source HGNC:HGNC:38141 See related Ensembl:ENSG00000232924 AllianceGenome:HGNC:38141 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P4
ELOCP6, Official Symbol ELOCP6provided by HGNC Official Full Name elongin C pseudogene 6provided by HGNC Primary source HGNC:HGNC:38142 See related Ensembl:ENSG00000225740 AllianceGenome:HGNC:38142 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P6
ELOCP7, Official Symbol ELOCP7provided by HGNC Official Full Name elongin C pseudogene 7provided by HGNC Primary source HGNC:HGNC:38143 See related Ensembl:ENSG00000230377 AllianceGenome:HGNC:38143 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P7
ELOCP8, Official Symbol ELOCP8provided by HGNC Official Full Name elongin C pseudogene 8provided by HGNC Primary source HGNC:HGNC:38144 See related Ensembl:ENSG00000234131 AllianceGenome:HGNC:38144 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCEB1P8
ELOF1, Official Symbol ELOF1provided by HGNC Official Full Name elongation factor 1provided by HGNC Primary source HGNC:HGNC:28691 See related Ensembl:ENSG00000130165 MIM:619818; AllianceGenome:HGNC:28691 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ELF1 Summary Predicted to enable RNA polymerase II complex binding activity. Predicted to be involved in epigenetic maintenance of chromatin in transcription-competent conformation and transcription elongation from RNA polymerase II promoter. Predicted to be located in nucleus. Predicted to be part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 39.1), prostate (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
ELOVL1, Official Symbol ELOVL1provided by HGNC Official Full Name ELOVL fatty acid elongase 1provided by HGNC Primary source HGNC:HGNC:14418 See related Ensembl:ENSG00000066322 MIM:611813; AllianceGenome:HGNC:14418 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Ssc1; IKSHD; CGI-88 Summary Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 64.5), esophagus (RPKM 53.9) and 25 other tissues See more Orthologs mouse all
ELOVL2, Official Symbol ELOVL2provided by HGNC Official Full Name ELOVL fatty acid elongase 2provided by HGNC Primary source HGNC:HGNC:14416 See related Ensembl:ENSG00000197977 MIM:611814; AllianceGenome:HGNC:14416 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SSC2 Summary Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 12.7), liver (RPKM 10.4) and 6 other tissues See more Orthologs mouse all
ELOVL2-AS1, Official Symbol ELOVL2-AS1provided by HGNC Official Full Name ELOVL2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44156 See related Ensembl:ENSG00000230314 AllianceGenome:HGNC:44156 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 3.7) See more
ELOVL3, Official Symbol ELOVL3provided by HGNC Official Full Name ELOVL fatty acid elongase 3provided by HGNC Primary source HGNC:HGNC:18047 See related Ensembl:ENSG00000119915 MIM:611815; AllianceGenome:HGNC:18047 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CIG30; CIG-30 Summary This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013] Expression Biased expression in fat (RPKM 1.4), skin (RPKM 0.7) and 8 other tissues See more Orthologs mouse all
ELOVL4, Official Symbol ELOVL4provided by HGNC Official Full Name ELOVL fatty acid elongase 4provided by HGNC Primary source HGNC:HGNC:14415 See related Ensembl:ENSG00000118402 MIM:605512; AllianceGenome:HGNC:14415 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADMD; CT118; ISQMR; SCA34; STGD2; STGD3 Summary This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 21.8), brain (RPKM 9.7) and 8 other tissues See more Orthologs mouse all
ELOVL5, Official Symbol ELOVL5provided by HGNC Official Full Name ELOVL fatty acid elongase 5provided by HGNC Primary source HGNC:HGNC:21308 See related Ensembl:ENSG00000012660 MIM:611805; AllianceGenome:HGNC:21308 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HELO1; SCA38; dJ483K16.1 Summary This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] Expression Broad expression in fat (RPKM 113.4), prostate (RPKM 59.1) and 22 other tissues See more Orthologs mouse all
ELOVL6, Official Symbol ELOVL6provided by HGNC Official Full Name ELOVL fatty acid elongase 6provided by HGNC Primary source HGNC:HGNC:15829 See related Ensembl:ENSG00000170522 MIM:611546; AllianceGenome:HGNC:15829 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAE; LCE; FACE; hELO2 Summary Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in liver (RPKM 11.9), stomach (RPKM 8.9) and 23 other tissues See more Orthologs mouse all
ELOVL7, Official Symbol ELOVL7provided by HGNC Official Full Name ELOVL fatty acid elongase 7provided by HGNC Primary source HGNC:HGNC:26292 See related Ensembl:ENSG00000164181 MIM:614451; AllianceGenome:HGNC:26292 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, saturated fatty acid; and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 8.7), skin (RPKM 7.9) and 18 other tissues See more Orthologs mouse all
ELP1, Official Symbol ELP1provided by HGNC Official Full Name elongator acetyltransferase complex subunit 1provided by HGNC Primary source HGNC:HGNC:5959 See related Ensembl:ENSG00000070061 MIM:603722; AllianceGenome:HGNC:5959 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FD; DYS; IKAP; IKI3; TOT1; IKBKAP Summary The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in adrenal (RPKM 22.4), ovary (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
ELP2, Official Symbol ELP2provided by HGNC Official Full Name elongator acetyltransferase complex subunit 2provided by HGNC Primary source HGNC:HGNC:18248 See related Ensembl:ENSG00000134759 MIM:616054; AllianceGenome:HGNC:18248 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as StIP; MRT58; SHINC-2; STATIP1 Summary The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016] Expression Ubiquitous expression in ovary (RPKM 15.2), endometrium (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
ELP3, Official Symbol ELP3provided by HGNC Official Full Name elongator acetyltransferase complex subunit 3provided by HGNC Primary source HGNC:HGNC:20696 See related Ensembl:ENSG00000134014 MIM:612722; AllianceGenome:HGNC:20696 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KAT9 Summary Enables acetyltransferase activity and phosphorylase kinase regulator activity. Involved in regulation of transcription by RNA polymerase II and tRNA wobble uridine modification. Located in cytosol and nucleolus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 10.1), endometrium (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
ELP4, Official Symbol ELP4provided by HGNC Official Full Name elongator acetyltransferase complex subunit 4provided by HGNC Primary source HGNC:HGNC:1171 See related Ensembl:ENSG00000109911 MIM:606985; AllianceGenome:HGNC:1171 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AN; AN2; hELP4; PAXNEB; PAX6NEB; C11orf19; dJ68P15A.1 Summary This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in kidney (RPKM 4.9), brain (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
ELP5, Official Symbol ELP5provided by HGNC Official Full Name elongator acetyltransferase complex subunit 5provided by HGNC Primary source HGNC:HGNC:30617 See related Ensembl:ENSG00000170291 MIM:615019; AllianceGenome:HGNC:30617 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DERP6; MST071; HSPC002; MSTP071; C17orf81 Summary Predicted to contribute to tRNA binding activity. Predicted to be involved in positive regulation of cell migration and tRNA modification. Located in cytosol and nucleoplasm. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 39.1), brain (RPKM 8.9) and 24 other tissues See more Orthologs mouse all
ELP6, Official Symbol ELP6provided by HGNC Official Full Name elongator acetyltransferase complex subunit 6provided by HGNC Primary source HGNC:HGNC:25976 See related Ensembl:ENSG00000163832 MIM:615020; AllianceGenome:HGNC:25976 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C3orf75; TMEM103 Summary Predicted to be involved in positive regulation of cell migration. Located in cytosol and nucleus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.4), adrenal (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
ELSPBP1, Official Symbol ELSPBP1provided by HGNC Official Full Name epididymal sperm binding protein 1provided by HGNC Primary source HGNC:HGNC:14417 See related Ensembl:ENSG00000169393 MIM:607443; AllianceGenome:HGNC:14417 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E12; HE12; EL149; EDDM12 Summary The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
EMB, Official Symbol EMBprovided by HGNC Official Full Name embiginprovided by HGNC Primary source HGNC:HGNC:30465 See related Ensembl:ENSG00000170571 MIM:615669; AllianceGenome:HGNC:30465 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GP70 Summary This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009] Expression Broad expression in bone marrow (RPKM 76.3), duodenum (RPKM 39.2) and 16 other tissues See more Orthologs mouse all
EMC1, Official Symbol EMC1provided by HGNC Official Full Name ER membrane protein complex subunit 1provided by HGNC Primary source HGNC:HGNC:28957 See related Ensembl:ENSG00000127463 MIM:616846; AllianceGenome:HGNC:28957 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CAVIPMR; KIAA0090 Summary This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012] Expression Ubiquitous expression in placenta (RPKM 10.5), brain (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
EMC1-AS1, Official Symbol EMC1-AS1provided by HGNC Official Full Name EMC1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54050 See related Ensembl:ENSG00000230424 AllianceGenome:HGNC:54050 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in placenta (RPKM 2.9), testis (RPKM 2.7) and 25 other tissues See more
EMC10, Official Symbol EMC10provided by HGNC Official Full Name ER membrane protein complex subunit 10provided by HGNC Primary source HGNC:HGNC:27609 See related Ensembl:ENSG00000161671 MIM:614545; AllianceGenome:HGNC:27609 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSM1; HSS1; NEDDFAS; C19orf63 Summary Contributes to membrane insertase activity. Involved in positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in extracellular region. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 28.0), testis (RPKM 24.5) and 25 other tissues See more Orthologs mouse all
EMC2, Official Symbol EMC2provided by HGNC Official Full Name ER membrane protein complex subunit 2provided by HGNC Primary source HGNC:HGNC:28963 See related Ensembl:ENSG00000104412 MIM:607722; AllianceGenome:HGNC:28963 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TTC35; KIAA0103 Summary Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Is extrinsic component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 34.1), fat (RPKM 27.5) and 25 other tissues See more Orthologs mouse all
EMC3, Official Symbol EMC3provided by HGNC Official Full Name ER membrane protein complex subunit 3provided by HGNC Primary source HGNC:HGNC:23999 See related Ensembl:ENSG00000125037 MIM:620273; AllianceGenome:HGNC:23999 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as POB; TMEM111 Summary Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 29.9), testis (RPKM 23.1) and 25 other tissues See more Orthologs mouse all
EMC4, Official Symbol EMC4provided by HGNC Official Full Name ER membrane protein complex subunit 4provided by HGNC Primary source HGNC:HGNC:28032 See related Ensembl:ENSG00000128463 MIM:616245; AllianceGenome:HGNC:28032 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIG17; TMEM85 Summary Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 45.2), brain (RPKM 40.2) and 25 other tissues See more Orthologs mouse all
EMC6, Official Symbol EMC6provided by HGNC Official Full Name ER membrane protein complex subunit 6provided by HGNC Primary source HGNC:HGNC:28430 See related Ensembl:ENSG00000127774 MIM:620261; AllianceGenome:HGNC:28430 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM93; RAB5IFL Summary Contributes to membrane insertase activity. Involved in autophagosome assembly; protein insertion into ER membrane by stop-transfer membrane-anchor sequence; and tail-anchored membrane protein insertion into ER membrane. Is integral component of endoplasmic reticulum membrane and integral component of omegasome membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 12.0), testis (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
EMC7, Official Symbol EMC7provided by HGNC Official Full Name ER membrane protein complex subunit 7provided by HGNC Primary source HGNC:HGNC:24301 See related Ensembl:ENSG00000134153 AllianceGenome:HGNC:24301 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HT022; C11orf3; C15orf24; ORF1-FL1 Summary Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 46.7), adrenal (RPKM 45.9) and 25 other tissues See more Orthologs mouse all
EMC8, Official Symbol EMC8provided by HGNC Official Full Name ER membrane protein complex subunit 8provided by HGNC Primary source HGNC:HGNC:7864 See related Ensembl:ENSG00000131148 MIM:604886; AllianceGenome:HGNC:7864 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NOC4; COX4NB; C16orf2; C16orf4; FAM158B Summary Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in cytosol. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 7.1), testis (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
EMC9, Official Symbol EMC9provided by HGNC Official Full Name ER membrane protein complex subunit 9provided by HGNC Primary source HGNC:HGNC:20273 See related Ensembl:ENSG00000100908 AllianceGenome:HGNC:20273 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CGI-112; FAM158A; C14orf122 Summary Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in cytoplasm. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 5.4), duodenum (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
EMCN, Official Symbol EMCNprovided by HGNC Official Full Name endomucinprovided by HGNC Primary source HGNC:HGNC:16041 See related Ensembl:ENSG00000164035 MIM:608350; AllianceGenome:HGNC:16041 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EMCN2; MUC14 Summary EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008] Expression Broad expression in kidney (RPKM 11.5), lung (RPKM 11.1) and 19 other tissues See more Orthologs mouse all
EMD, Official Symbol EMDprovided by HGNC Official Full Name emerinprovided by HGNC Primary source HGNC:HGNC:3331 See related Ensembl:ENSG00000102119 MIM:300384; AllianceGenome:HGNC:3331 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as STA; EDMD; LEMD5 Summary Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 27.0), ovary (RPKM 26.0) and 25 other tissues See more Orthologs mouse all
EME1, Official Symbol EME1provided by HGNC Official Full Name essential meiotic structure-specific endonuclease 1provided by HGNC Primary source HGNC:HGNC:24965 See related Ensembl:ENSG00000154920 MIM:610885; AllianceGenome:HGNC:24965 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MMS4L; SLX2A Summary This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] Expression Broad expression in testis (RPKM 5.3), bone marrow (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
EME2, Official Symbol EME2provided by HGNC Official Full Name essential meiotic structure-specific endonuclease subunit 2provided by HGNC Primary source HGNC:HGNC:27289 See related Ensembl:ENSG00000197774 MIM:610886; AllianceGenome:HGNC:27289 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLX2B; gs125 Summary EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in prostate (RPKM 3.4), duodenum (RPKM 3.1) and 24 other tissues See more Orthologs mouse all
EMG1, Official Symbol EMG1provided by HGNC Official Full Name EMG1 N1-specific pseudouridine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:16912 See related Ensembl:ENSG00000126749 MIM:611531; AllianceGenome:HGNC:16912 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C2F; NEP1; Grcc2f Summary This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in appendix (RPKM 11.6), lymph node (RPKM 11.5) and 25 other tissues See more Orthologs mouse all
EMID1, Official Symbol EMID1provided by HGNC Official Full Name EMI domain containing 1provided by HGNC Primary source HGNC:HGNC:18036 See related Ensembl:ENSG00000186998 MIM:608926; AllianceGenome:HGNC:18036 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EMI5; EMU1 Summary Predicted to be located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and extracellular matrix. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 4.8), adrenal (RPKM 3.1) and 21 other tissues See more Orthologs mouse all
EMILIN1, Official Symbol EMILIN1provided by HGNC Official Full Name elastin microfibril interfacer 1provided by HGNC Primary source HGNC:HGNC:19880 See related Ensembl:ENSG00000138080 MIM:130660; AllianceGenome:HGNC:19880 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EMI; HMN10; gp115; EMILIN Summary This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009] Expression Broad expression in endometrium (RPKM 33.6), prostate (RPKM 26.6) and 20 other tissues See more Orthologs mouse all
EMILIN2, Official Symbol EMILIN2provided by HGNC Official Full Name elastin microfibril interfacer 2provided by HGNC Primary source HGNC:HGNC:19881 See related Ensembl:ENSG00000132205 MIM:608928; AllianceGenome:HGNC:19881 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FOAP-10; EMILIN-2 Summary Predicted to enable extracellular matrix constituent conferring elasticity. Predicted to be involved in cell adhesion. Located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 19.1), appendix (RPKM 17.1) and 22 other tissues See more Orthologs mouse all
EMILIN3, Official Symbol EMILIN3provided by HGNC Official Full Name elastin microfibril interfacer 3provided by HGNC Primary source HGNC:HGNC:16123 See related Ensembl:ENSG00000183798 MIM:608929; AllianceGenome:HGNC:16123 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EMILIN5; C20orf130; dJ620E11.4 Summary Enables identical protein binding activity. Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 6.7), duodenum (RPKM 6.1) and 24 other tissues See more Orthologs mouse all
EML1, Official Symbol EML1provided by HGNC Official Full Name EMAP like 1provided by HGNC Primary source HGNC:HGNC:3330 See related Ensembl:ENSG00000066629 MIM:602033; AllianceGenome:HGNC:3330 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BH; EMAP; ELP79; EMAPL; EMAP-1 Summary Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 10.0), placenta (RPKM 9.2) and 24 other tissues See more Orthologs mouse all
EML2, Official Symbol EML2provided by HGNC Official Full Name EMAP like 2provided by HGNC Primary source HGNC:HGNC:18035 See related Ensembl:ENSG00000125746 MIM:617494; AllianceGenome:HGNC:18035 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ELP70; EMAP2; EMAP-2 Summary Enables microtubule binding activity. Involved in negative regulation of microtubule polymerization and regulation of microtubule nucleation. Colocalizes with mitotic spindle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 8.7), skin (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
EML2-AS1, Official Symbol EML2-AS1provided by HGNC Official Full Name EML2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48331 See related Ensembl:ENSG00000267757 AllianceGenome:HGNC:48331 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C19orf83 Expression Broad expression in brain (RPKM 1.8), testis (RPKM 1.4) and 20 other tissues See more
EML3, Official Symbol EML3provided by HGNC Official Full Name EMAP like 3provided by HGNC Primary source HGNC:HGNC:26666 See related Ensembl:ENSG00000149499 MIM:618118; AllianceGenome:HGNC:26666 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ELP95; EMAP3; EMAP95 Summary Predicted to enable microtubule binding activity. Involved in mitotic metaphase plate congression and regulation of mitotic spindle assembly. Located in several cellular components, including midbody; mitotic spindle microtubule; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 13.3), fat (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
EML4, Official Symbol EML4provided by HGNC Official Full Name EMAP like 4provided by HGNC Primary source HGNC:HGNC:1316 See related Ensembl:ENSG00000143924 MIM:607442; AllianceGenome:HGNC:1316 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C2orf2; ELP120; EMAP-4; EMAPL4; ROPP120 Summary This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in appendix (RPKM 24.1), duodenum (RPKM 22.4) and 25 other tissues See more Orthologs mouse all
EML5, Official Symbol EML5provided by HGNC Official Full Name EMAP like 5provided by HGNC Primary source HGNC:HGNC:18197 See related Ensembl:ENSG00000165521 MIM:618119; AllianceGenome:HGNC:18197 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAP16; EMAP-2; EMAP-5 Summary Predicted to enable microtubule binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in ovary (RPKM 10.1), prostate (RPKM 3.2) and 12 other tissues See more Orthologs mouse all