psui3905/ncbi_genes_summary huggingface dataset:
ERCC3, Official Symbol ERCC3provided by HGNC Official Full Name ERCC excision repair 3, TFIIH core complex helicase subunitprovided by HGNC Primary source HGNC:HGNC:3435 See related Ensembl:ENSG00000163161 MIM:133510; AllianceGenome:HGNC:3435 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 XPB; BTF2; Ssl2; TTD2; GTF2H; RAD25; TFIIH Summary This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in testis (RPKM 20.2), lymph node (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
ERCC4, Official Symbol ERCC4provided by HGNC Official Full Name ERCC excision repair 4, endonuclease catalytic subunitprovided by HGNC Primary source HGNC:HGNC:3436 See related Ensembl:ENSG00000175595 MIM:133520; AllianceGenome:HGNC:3436 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 XPF; RAD1; FANCQ; XFEPS; ERCC11 Summary The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009] Expression Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
ERCC5, Official Symbol ERCC5provided by HGNC Official Full Name ERCC excision repair 5, endonucleaseprovided by HGNC Primary source HGNC:HGNC:3437 See related Ensembl:ENSG00000134899 MIM:133530; AllianceGenome:HGNC:3437 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 XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201 Summary This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in lymph node (RPKM 16.5), duodenum (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
ERCC6, Official Symbol ERCC6provided by HGNC Official Full Name ERCC excision repair 6, chromatin remodeling factorprovided by HGNC Primary source HGNC:HGNC:3438 See related Ensembl:ENSG00000225830 MIM:609413; AllianceGenome:HGNC:3438 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 CSB; CKN2; COFS; ARMD5; COFS1; POF11; RAD26; UVSS1; CSB-PGBD3 Summary This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in thyroid (RPKM 2.7), skin (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
ERCC6L, Official Symbol ERCC6Lprovided by HGNC Official Full Name ERCC excision repair 6 like, spindle assembly checkpoint helicaseprovided by HGNC Primary source HGNC:HGNC:20794 See related Ensembl:ENSG00000186871 MIM:300687; AllianceGenome:HGNC:20794 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 PICH; RAD26L Summary This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017] Expression Broad expression in lymph node (RPKM 1.5), bone marrow (RPKM 1.3) and 18 other tissues See more Orthologs mouse all
ERCC6L2, Official Symbol ERCC6L2provided by HGNC Official Full Name ERCC excision repair 6 like 2provided by HGNC Primary source HGNC:HGNC:26922 See related Ensembl:ENSG00000182150 MIM:615667; AllianceGenome:HGNC:26922 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 HEBO; BMFS2; SR278; RAD26L; C9orf102 Summary This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in thyroid (RPKM 2.2), ovary (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
ERCC8, Official Symbol ERCC8provided by HGNC Official Full Name ERCC excision repair 8, CSA ubiquitin ligase complex subunitprovided by HGNC Primary source HGNC:HGNC:3439 See related Ensembl:ENSG00000049167 MIM:609412; AllianceGenome:HGNC:3439 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 CSA; CKN1; UVSS2 Summary This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 4.1), thyroid (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
ERCC8-AS1, Official Symbol ERCC8-AS1provided by HGNC Official Full Name ERCC8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40220 See related AllianceGenome:HGNC:40220 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 testis (RPKM 2.9), thyroid (RPKM 1.5) and 24 other tissues See more
EREG, Official Symbol EREGprovided by HGNC Official Full Name epiregulinprovided by HGNC Primary source HGNC:HGNC:3443 See related Ensembl:ENSG00000124882 MIM:602061; AllianceGenome:HGNC:3443 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 ER; Ep; EPR Summary This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015] Expression Biased expression in bone marrow (RPKM 51.6), esophagus (RPKM 7.6) and 3 other tissues See more Orthologs mouse all
ERF, Official Symbol ERFprovided by HGNC Official Full Name ETS2 repressor factorprovided by HGNC Primary source HGNC:HGNC:3444 See related Ensembl:ENSG00000105722 MIM:611888; AllianceGenome:HGNC:3444 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 PE2; CRS4; PE-2; CHYTS Summary ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in kidney (RPKM 13.9), fat (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
ERFE, Official Symbol ERFEprovided by HGNC Official Full Name erythroferroneprovided by HGNC Primary source HGNC:HGNC:26727 See related Ensembl:ENSG00000178752 MIM:615099; AllianceGenome:HGNC:26727 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 CTRP15; FAM132B; C1QTNF15 Summary Predicted to enable hormone activity. Predicted to be involved in several processes, including negative regulation of gluconeogenesis; positive regulation of glucose import; and positive regulation of insulin receptor signaling pathway. Predicted to act upstream of or within positive regulation of fatty acid transport and regulation of fatty acid metabolic process. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 10.6), testis (RPKM 4.5) and 4 other tissues See more Orthologs mouse all
ERFL, Official Symbol ERFLprovided by HGNC Official Full Name ETS repressor factor likeprovided by HGNC Primary source HGNC:HGNC:53894 See related Ensembl:ENSG00000268041 AllianceGenome:HGNC:53894 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 erfl1 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
ERG, Official Symbol ERGprovided by HGNC Official Full Name ETS transcription factor ERGprovided by HGNC Primary source HGNC:HGNC:3446 See related Ensembl:ENSG00000157554 MIM:165080; AllianceGenome:HGNC:3446 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 p55; erg-3 Summary This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014] Expression Broad expression in fat (RPKM 7.8), spleen (RPKM 6.9) and 23 other tissues See more Orthologs mouse all
ERG28, Official Symbol ERG28provided by HGNC Official Full Name ergosterol biosynthesis 28 homologprovided by HGNC Primary source HGNC:HGNC:1187 See related Ensembl:ENSG00000133935 MIM:604576; AllianceGenome:HGNC:1187 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 NET51; C14orf1 Summary Enables identical protein binding activity. Predicted to be involved in sterol biosynthetic process. Located in transport vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 53.5), liver (RPKM 25.7) and 25 other tissues See more Orthologs mouse all
ERGIC1, Official Symbol ERGIC1provided by HGNC Official Full Name endoplasmic reticulum-golgi intermediate compartment 1provided by HGNC Primary source HGNC:HGNC:29205 See related Ensembl:ENSG00000113719 MIM:617946; AllianceGenome:HGNC:29205 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 AMC2; AMCN; NET24; ERGIC32; ERGIC-32 Summary This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 69.0), adrenal (RPKM 49.7) and 25 other tissues See more Orthologs mouse all
ERGIC2, Official Symbol ERGIC2provided by HGNC Official Full Name ERGIC and golgi 2provided by HGNC Primary source HGNC:HGNC:30208 See related Ensembl:ENSG00000087502 MIM:612236; AllianceGenome:HGNC:30208 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 PTX1; CDA14; Erv41; cd002 Summary ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008] Expression Ubiquitous expression in urinary bladder (RPKM 7.7), placenta (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
ERGIC3, Official Symbol ERGIC3provided by HGNC Official Full Name ERGIC and golgi 3provided by HGNC Primary source HGNC:HGNC:15927 See related Ensembl:ENSG00000125991 MIM:616971; AllianceGenome:HGNC:15927 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 Erv46; CGI-54; C2orf47; PRO0989; C20orf47; NY-BR-84; SDBCAG84; dJ477O4.2 Summary Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 113.7), testis (RPKM 112.2) and 25 other tissues See more Orthologs mouse all
ERH, Official Symbol ERHprovided by HGNC Official Full Name ERH mRNA splicing and mitosis factorprovided by HGNC Primary source HGNC:HGNC:3447 See related Ensembl:ENSG00000100632 MIM:601191; AllianceGenome:HGNC:3447 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 DROER Summary Enables methyl-CpG binding activity. Predicted to be involved in pyrimidine nucleoside metabolic process. Located in midbody and nucleus. Part of methylosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 61.2), kidney (RPKM 56.3) and 25 other tissues See more Orthologs mouse all
ERI1, Official Symbol ERI1provided by HGNC Official Full Name exoribonuclease 1provided by HGNC Primary source HGNC:HGNC:23994 See related Ensembl:ENSG00000104626 MIM:608739; AllianceGenome:HGNC:23994 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 HEXO; THEX1; 3'HEXO Summary Enables 3'-5' exonuclease activity. Predicted to be involved in exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.2), appendix (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
ERI2, Official Symbol ERI2provided by HGNC Official Full Name ERI1 exoribonuclease family member 2provided by HGNC Primary source HGNC:HGNC:30541 See related Ensembl:ENSG00000196678 AllianceGenome:HGNC:30541 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 EXOD1; ZGRF5 Summary Predicted to enable 3'-5'-exoribonuclease activity. Predicted to be involved in exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.3), liver (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
ERI3, Official Symbol ERI3provided by HGNC Official Full Name ERI1 exoribonuclease family member 3provided by HGNC Primary source HGNC:HGNC:17276 See related Ensembl:ENSG00000117419 MIM:609917; AllianceGenome:HGNC:17276 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 PINT1; PRNPIP Summary Enables RNA binding activity. Predicted to be involved in exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 26.0), testis (RPKM 24.6) and 25 other tissues See more Orthologs mouse all
ERI3-IT1, Official Symbol ERI3-IT1provided by HGNC Official Full Name ERI3 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41431 See related Ensembl:ENSG00000233602 AllianceGenome:HGNC:41431 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 Broad expression in testis (RPKM 1.7), endometrium (RPKM 0.7) and 20 other tissues See more
ERICD, Official Symbol ERICDprovided by HGNC Official Full Name E2F1-regulated inhibitor of cell deathprovided by HGNC Primary source HGNC:HGNC:49404 See related AllianceGenome:HGNC:49404 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 ERIC; LINC01130; TCONS_00014875
ERICH1, Official Symbol ERICH1provided by HGNC Official Full Name glutamate rich 1provided by HGNC Primary source HGNC:HGNC:27234 See related Ensembl:ENSG00000104714 AllianceGenome:HGNC:27234 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 HSPC319 Expression Ubiquitous expression in lymph node (RPKM 1.3), skin (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
ERICH2, Official Symbol ERICH2provided by HGNC Official Full Name glutamate rich 2provided by HGNC Primary source HGNC:HGNC:44395 See related Ensembl:ENSG00000204334 AllianceGenome:HGNC:44395 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 Expression Biased expression in testis (RPKM 9.3), thyroid (RPKM 2.2) and 4 other tissues See more Orthologs mouse all
ERICH3, Official Symbol ERICH3provided by HGNC Official Full Name glutamate rich 3provided by HGNC Primary source HGNC:HGNC:25346 See related Ensembl:ENSG00000178965 AllianceGenome:HGNC:25346 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 C1orf173 Expression Biased expression in testis (RPKM 11.4), brain (RPKM 6.8) and 2 other tissues See more Orthologs mouse all
ERICH3-AS1, Official Symbol ERICH3-AS1provided by HGNC Official Full Name ERICH3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41093 See related Ensembl:ENSG00000234497 AllianceGenome:HGNC:41093 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 Biased expression in testis (RPKM 1.5), brain (RPKM 0.5) and 2 other tissues See more
ERICH4, Official Symbol ERICH4provided by HGNC Official Full Name glutamate rich 4provided by HGNC Primary source HGNC:HGNC:34497 See related Ensembl:ENSG00000204978 AllianceGenome:HGNC:34497 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 C19orf69 Expression Biased expression in duodenum (RPKM 9.8), small intestine (RPKM 9.5) and 3 other tissues See more Orthologs mouse all
ERICH5, Official Symbol ERICH5provided by HGNC Official Full Name glutamate rich 5provided by HGNC Primary source HGNC:HGNC:26823 See related Ensembl:ENSG00000177459 AllianceGenome:HGNC:26823 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 C8orf47 Expression Broad expression in gall bladder (RPKM 6.0), stomach (RPKM 4.0) and 16 other tissues See more Orthologs mouse all
ERICH6, Official Symbol ERICH6provided by HGNC Official Full Name glutamate rich 6provided by HGNC Primary source HGNC:HGNC:28602 See related Ensembl:ENSG00000163645 AllianceGenome:HGNC:28602 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 C3orf44; ERICH6A; FAM194A Expression Restricted expression toward testis (RPKM 13.0) See more Orthologs mouse all
ERICH6-AS1, Official Symbol ERICH6-AS1provided by HGNC Official Full Name ERICH6 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41205 See related Ensembl:ENSG00000240137 AllianceGenome:HGNC:41205 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 Broad expression in testis (RPKM 3.4), kidney (RPKM 0.9) and 18 other tissues See more
ERICH6B, Official Symbol ERICH6Bprovided by HGNC Official Full Name glutamate rich 6Bprovided by HGNC Primary source HGNC:HGNC:26523 See related Ensembl:ENSG00000165837 AllianceGenome:HGNC:26523 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 FAM194B Expression Restricted expression toward testis (RPKM 1.6) See more Orthologs mouse all
ERLEC1, Official Symbol ERLEC1provided by HGNC Official Full Name endoplasmic reticulum lectin 1provided by HGNC Primary source HGNC:HGNC:25222 See related Ensembl:ENSG00000068912 MIM:611229; AllianceGenome:HGNC:25222 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 CIM; HEL117; XTP3-B; C2orf30; CL24936; CL25084; XTP3TPB Summary This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in thyroid (RPKM 36.0), prostate (RPKM 29.5) and 25 other tissues See more Orthologs mouse all
ERLEC1P1, Official Symbol ERLEC1P1provided by HGNC Official Full Name endoplasmic reticulum lectin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38012 See related AllianceGenome:HGNC:38012 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ERLIN1, Official Symbol ERLIN1provided by HGNC Official Full Name ER lipid raft associated 1provided by HGNC Primary source HGNC:HGNC:16947 See related Ensembl:ENSG00000107566 MIM:611604; AllianceGenome:HGNC:16947 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 KE04; KEO4; SPFH1; SPG62; Erlin-1; C10orf69 Summary The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in bone marrow (RPKM 24.9), liver (RPKM 24.8) and 25 other tissues See more Orthologs mouse all
ERLIN2, Official Symbol ERLIN2provided by HGNC Official Full Name ER lipid raft associated 2provided by HGNC Primary source HGNC:HGNC:1356 See related Ensembl:ENSG00000147475 MIM:611605; AllianceGenome:HGNC:1356 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 NET32; SPFH2; SPG18; C8orf2; Erlin-2 Summary This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in thyroid (RPKM 20.3), kidney (RPKM 15.4) and 25 other tissues See more Orthologs mouse all
ERLNC1, Official Symbol ERLNC1provided by HGNC Official Full Name estrogen receptor responsive lncRNA 1provided by HGNC Primary source HGNC:HGNC:41109 See related Ensembl:ENSG00000230550 AllianceGenome:HGNC:41109 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 ElncRNA1; TC0101441 Expression Biased expression in liver (RPKM 7.1), testis (RPKM 6.6) and 9 other tissues See more
ERMAP, Official Symbol ERMAPprovided by HGNC Official Full Name erythroblast membrane associated protein (Scianna blood group)provided by HGNC Primary source HGNC:HGNC:15743 See related Ensembl:ENSG00000164010 MIM:609017; AllianceGenome:HGNC:15743 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 RD; SC; BTN5; PRO2801 Summary The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 13.2), thyroid (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
ERMARD, Official Symbol ERMARDprovided by HGNC Official Full Name ER membrane associated RNA degradationprovided by HGNC Primary source HGNC:HGNC:21056 See related Ensembl:ENSG00000130023 MIM:615532; AllianceGenome:HGNC:21056 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 PVNH6; C6orf70; dJ266L20.3 Summary The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in testis (RPKM 11.2), thyroid (RPKM 6.1) and 25 other tissues See more Orthologs all
ERMN, Official Symbol ERMNprovided by HGNC Official Full Name erminprovided by HGNC Primary source HGNC:HGNC:29208 See related Ensembl:ENSG00000136541 MIM:610072; AllianceGenome:HGNC:29208 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 JN; KIAA1189 Summary Predicted to enable actin filament binding activity. Involved in actin filament organization; regulation of cell projection organization; and regulation of cell shape. Located in cell cortex; internode region of axon; and paranode region of axon. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward brain (RPKM 77.3) See more Orthologs mouse all
ERMP1, Official Symbol ERMP1provided by HGNC Official Full Name endoplasmic reticulum metallopeptidase 1provided by HGNC Primary source HGNC:HGNC:23703 See related Ensembl:ENSG00000099219 MIM:611156; AllianceGenome:HGNC:23703 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 FXNA; KIAA1815; bA207C16.3 Summary Predicted to enable metal ion binding activity and metalloexopeptidase activity. Involved in cellular response to oxidative stress. Acts upstream of or within endoplasmic reticulum unfolded protein response. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 22.8), kidney (RPKM 19.4) and 24 other tissues See more Orthologs mouse all
ERN1, Official Symbol ERN1provided by HGNC Official Full Name endoplasmic reticulum to nucleus signaling 1provided by HGNC Primary source HGNC:HGNC:3449 See related Ensembl:ENSG00000178607 MIM:604033; AllianceGenome:HGNC:3449 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 IRE1; IRE1P; IRE1a; hIRE1p Summary This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in adrenal (RPKM 14.0), pancreas (RPKM 8.7) and 24 other tissues See more Orthologs mouse all
ERN2, Official Symbol ERN2provided by HGNC Official Full Name endoplasmic reticulum to nucleus signaling 2provided by HGNC Primary source HGNC:HGNC:16942 See related Ensembl:ENSG00000134398 MIM:604034; AllianceGenome:HGNC:16942 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 IRE1b; IRE2p; hIRE2p; IRE1-BETA Summary Enables several functions, including ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in several processes, including apoptotic chromosome condensation; negative regulation of transcription, DNA-templated; and rRNA catabolic process. Predicted to be located in endoplasmic reticulum membrane and endoplasmic reticulum quality control compartment. Predicted to be integral component of membrane. Predicted to be part of IRE1-TRAF2-ASK1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 26.7), colon (RPKM 17.0) and 5 other tissues See more Orthologs mouse all
ERO1A, Official Symbol ERO1Aprovided by HGNC Official Full Name endoplasmic reticulum oxidoreductase 1 alphaprovided by HGNC Primary source HGNC:HGNC:13280 See related Ensembl:ENSG00000197930 MIM:615435; AllianceGenome:HGNC:13280 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 ERO1L; ERO1-L; ERO1LA; Ero1alpha; ERO1-alpha; ERO1-L-alpha Summary Enables oxidoreductase activity. Involved in chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 69.5), placenta (RPKM 19.1) and 21 other tissues See more Orthologs mouse all
ERO1B, Official Symbol ERO1Bprovided by HGNC Official Full Name endoplasmic reticulum oxidoreductase 1 betaprovided by HGNC Primary source HGNC:HGNC:14355 See related Ensembl:ENSG00000086619 MIM:615437; AllianceGenome:HGNC:14355 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 ERO1LB; Ero1beta Summary Enables thiol oxidase activity. Involved in protein folding in endoplasmic reticulum. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in stomach (RPKM 19.2), thyroid (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
ERP27, Official Symbol ERP27provided by HGNC Official Full Name endoplasmic reticulum protein 27provided by HGNC Primary source HGNC:HGNC:26495 See related Ensembl:ENSG00000139055 MIM:610642; AllianceGenome:HGNC:26495 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 PDIA8; C12orf46 Summary This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016] Expression Biased expression in pancreas (RPKM 211.6) and urinary bladder (RPKM 10.4) See more Orthologs mouse all
ERP29, Official Symbol ERP29provided by HGNC Official Full Name endoplasmic reticulum protein 29provided by HGNC Primary source HGNC:HGNC:13799 See related Ensembl:ENSG00000089248 MIM:602287; AllianceGenome:HGNC:13799 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 ERp28; ERp31; PDIA9; PDI-DB; C12orf8; HEL-S-107 Summary This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in bone marrow (RPKM 73.5), prostate (RPKM 67.8) and 25 other tissues See more Orthologs mouse all
ERP29P1, Official Symbol ERP29P1provided by HGNC Official Full Name endoplasmic reticulum lumenal protein 29 pseudogene 1provided by HGNC Primary source HGNC:HGNC:24625 See related AllianceGenome:HGNC:24625 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 ERP28P
ERP44, Official Symbol ERP44provided by HGNC Official Full Name endoplasmic reticulum protein 44provided by HGNC Primary source HGNC:HGNC:18311 See related Ensembl:ENSG00000023318 MIM:609170; AllianceGenome:HGNC:18311 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 PDIA10; TXNDC4 Summary This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in thyroid (RPKM 19.6), placenta (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
ERRFI1, Official Symbol ERRFI1provided by HGNC Official Full Name ERBB receptor feedback inhibitor 1provided by HGNC Primary source HGNC:HGNC:18185 See related Ensembl:ENSG00000116285 MIM:608069; AllianceGenome:HGNC:18185 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 MIG6; RALT; MIG-6; GENE-33 Summary ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008] Expression Broad expression in liver (RPKM 123.7), gall bladder (RPKM 60.1) and 20 other tissues See more Orthologs mouse all
ERV3-1, Official Symbol ERV3-1provided by HGNC Official Full Name endogenous retrovirus group 3 member 1, envelopeprovided by HGNC Primary source HGNC:HGNC:3454 See related Ensembl:ENSG00000213462 MIM:131170; AllianceGenome:HGNC:3454 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 ERV3; ERVR; envR; ERV-R; HERVR; HERV-R Summary This gene contains sequence derived from endogenous retrovirus, and is therefore similar to multiple other loci in the genome. Transcripts at this locus encode a conserved protein with a predicted signal peptide and similarity to the Env polyprotein. This protein is overexpressed in colorectal and other cancers. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in adrenal (RPKM 19.4), fat (RPKM 15.6) and 23 other tissues See more Orthologs all
ERVFRD-1, Official Symbol ERVFRD-1provided by HGNC Official Full Name endogenous retrovirus group FRD member 1, envelopeprovided by HGNC Primary source HGNC:HGNC:33823 See related Ensembl:ENSG00000244476 MIM:610524; AllianceGenome:HGNC:33823 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 envFRD; UNQ6191; ERVFRDE1; GLLL6191; HERV-FRD; HERV-W/FRD Summary Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012] Expression Biased expression in placenta (RPKM 15.8) and lung (RPKM 0.4) See more Orthologs all
ERVH-1, Official Symbol ERVH-1provided by HGNC Official Full Name endogenous retrovirus group H member 1provided by HGNC Primary source HGNC:HGNC:39053 Gene type other Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo