psui3905/ncbi_genes_summary huggingface dataset:
SEMA6A-AS1, Official Symbol SEMA6A-AS1provided by HGNC Official Full Name SEMA6A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51110 See related Ensembl:ENSG00000248445 AllianceGenome:HGNC:51110 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 CTB-118N6.3 Expression Ubiquitous expression in placenta (RPKM 13.5), brain (RPKM 12.7) and 25 other tissues See more
SEMA6A-AS2, Official Symbol SEMA6A-AS2provided by HGNC Official Full Name SEMA6A antisense RNA 2provided by HGNC Primary source HGNC:HGNC:52754 See related Ensembl:ENSG00000249167 AllianceGenome:HGNC:52754 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 Low expression observed in reference dataset See more
SEMA6B, Official Symbol SEMA6Bprovided by HGNC Official Full Name semaphorin 6Bprovided by HGNC Primary source HGNC:HGNC:10739 See related Ensembl:ENSG00000167680 MIM:608873; AllianceGenome:HGNC:10739 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 EPM11; SEMAN; semaZ; SEMA-VIB; SEM-SEMA-Y; SEM-SEMA-Z Summary This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 18.7), spleen (RPKM 8.6) and 15 other tissues See more Orthologs mouse all
SEMA6C, Official Symbol SEMA6Cprovided by HGNC Official Full Name semaphorin 6Cprovided by HGNC Primary source HGNC:HGNC:10740 See related Ensembl:ENSG00000143434 MIM:609294; AllianceGenome:HGNC:10740 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 SEMAY; Sema-Y; m-SemaY; m-SemaY2 Summary This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010] Expression Broad expression in testis (RPKM 9.5), heart (RPKM 5.4) and 20 other tissues See more Orthologs mouse all
SEMA6D, Official Symbol SEMA6Dprovided by HGNC Official Full Name semaphorin 6Dprovided by HGNC Primary source HGNC:HGNC:16770 See related Ensembl:ENSG00000137872 MIM:609295; AllianceGenome:HGNC:16770 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 Summary Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010] Expression Broad expression in small intestine (RPKM 13.9), placenta (RPKM 10.4) and 19 other tissues See more Orthologs mouse all
SEMA7A, Official Symbol SEMA7Aprovided by HGNC Official Full Name semaphorin 7A (John Milton Hagen blood group)provided by HGNC Primary source HGNC:HGNC:10741 See related Ensembl:ENSG00000138623 MIM:607961; AllianceGenome:HGNC:10741 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 JMH; CD108; SEMAL; CDw108; PFIC11; SEMAK1; H-Sema-L; H-SEMA-K1 Summary This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] Expression Broad expression in testis (RPKM 25.1), spleen (RPKM 22.9) and 14 other tissues See more Orthologs mouse all
SEMG1, Official Symbol SEMG1provided by HGNC Official Full Name semenogelin 1provided by HGNC Primary source HGNC:HGNC:10742 See related Ensembl:ENSG00000124233 MIM:182140; AllianceGenome:HGNC:10742 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 SGI; SEMG; CT103; dJ172H20.2 Summary The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20. [provided by RefSeq, Feb 2016] Expression Low expression observed in reference dataset See more Orthologs all
SEMG2, Official Symbol SEMG2provided by HGNC Official Full Name semenogelin 2provided by HGNC Primary source HGNC:HGNC:10743 See related Ensembl:ENSG00000124157 MIM:182141; AllianceGenome:HGNC:10743 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 SGII Summary The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. An antibacterial activity has been found for a antimicrobial peptide isolated from this protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq, Jan 2015] Expression Low expression observed in reference dataset See more Orthologs all
SENCR, Official Symbol SENCRprovided by HGNC Official Full Name smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNAprovided by HGNC Primary source HGNC:HGNC:44177 See related Ensembl:ENSG00000254703 MIM:615815; AllianceGenome:HGNC:44177 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 lncRNA9; FLI1-AS1 Expression Broad expression in spleen (RPKM 2.6), placenta (RPKM 0.7) and 16 other tissues See more
SENP1, Official Symbol SENP1provided by HGNC Official Full Name SUMO specific peptidase 1provided by HGNC Primary source HGNC:HGNC:17927 See related Ensembl:ENSG00000079387 MIM:612157; AllianceGenome:HGNC:17927 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 SuPr-2 Summary This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Broad expression in testis (RPKM 36.5), lymph node (RPKM 5.6) and 18 other tissues See more Orthologs mouse all
SENP2, Official Symbol SENP2provided by HGNC Official Full Name SUMO specific peptidase 2provided by HGNC Primary source HGNC:HGNC:23116 See related Ensembl:ENSG00000163904 MIM:608261; AllianceGenome:HGNC:23116 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 AXAM2; SMT3IP2 Summary SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004] Expression Broad expression in testis (RPKM 37.1), brain (RPKM 13.4) and 24 other tissues See more Orthologs mouse all
SENP3, Official Symbol SENP3provided by HGNC Official Full Name SUMO specific peptidase 3provided by HGNC Primary source HGNC:HGNC:17862 See related Ensembl:ENSG00000161956 MIM:612844; AllianceGenome:HGNC:17862 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 SSP3; Ulp1; SMT3IP1 Summary The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009] Expression Ubiquitous expression in testis (RPKM 20.2), brain (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
SENP5, Official Symbol SENP5provided by HGNC Official Full Name SUMO specific peptidase 5provided by HGNC Primary source HGNC:HGNC:28407 See related Ensembl:ENSG00000119231 MIM:612845; AllianceGenome:HGNC:28407 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 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009] Expression Ubiquitous expression in testis (RPKM 8.4), brain (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
SENP6, Official Symbol SENP6provided by HGNC Official Full Name SUMO specific peptidase 6provided by HGNC Primary source HGNC:HGNC:20944 See related Ensembl:ENSG00000112701 MIM:605003; AllianceGenome:HGNC:20944 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 SSP1; SUSP1 Summary Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] Expression Ubiquitous expression in thyroid (RPKM 14.2), testis (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
SENP7, Official Symbol SENP7provided by HGNC Official Full Name SUMO specific peptidase 7provided by HGNC Primary source HGNC:HGNC:30402 See related Ensembl:ENSG00000138468 MIM:612846; AllianceGenome:HGNC:30402 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 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] Expression Ubiquitous expression in endometrium (RPKM 9.0), lymph node (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
SENP8, Official Symbol SENP8provided by HGNC Official Full Name SUMO peptidase family member, NEDD8 specificprovided by HGNC Primary source HGNC:HGNC:22992 See related Ensembl:ENSG00000166192 MIM:608659; AllianceGenome:HGNC:22992 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 DEN1; NEDP1; PRSC2 Summary This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] Expression Broad expression in testis (RPKM 2.2), thyroid (RPKM 1.6) and 23 other tissues See more Orthologs mouse all
SEPHS1, Official Symbol SEPHS1provided by HGNC Official Full Name selenophosphate synthetase 1provided by HGNC Primary source HGNC:HGNC:19685 See related Ensembl:ENSG00000086475 MIM:600902; AllianceGenome:HGNC:19685 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 SPS; SELD; SPS1 Summary This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in thyroid (RPKM 16.5), kidney (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
SEPHS1P2, Official Symbol SEPHS1P2provided by HGNC Official Full Name selenophosphate synthetase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42162 See related Ensembl:ENSG00000258787 AllianceGenome:HGNC:42162 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEPHS1P6, Official Symbol SEPHS1P6provided by HGNC Official Full Name selenophosphate synthetase 1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:42168 See related Ensembl:ENSG00000213938 AllianceGenome:HGNC:42168 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEPHS2, Official Symbol SEPHS2provided by HGNC Official Full Name selenophosphate synthetase 2provided by HGNC Primary source HGNC:HGNC:19686 See related Ensembl:ENSG00000179918 MIM:606218; AllianceGenome:HGNC:19686 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 SPS2 Summary This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5. [provided by RefSeq, May 2017] Orthologs mouse all
SEPSECS, Official Symbol SEPSECSprovided by HGNC Official Full Name Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthaseprovided by HGNC Primary source HGNC:HGNC:30605 See related Ensembl:ENSG00000109618 MIM:613009; AllianceGenome:HGNC:30605 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 LP; SLA; SecS; PCH2D; SLA/LP; SLA-p35 Summary The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in liver (RPKM 7.2), duodenum (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
SEPSECS-AS1, Official Symbol SEPSECS-AS1provided by HGNC Official Full Name SEPSECS antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:27737 See related AllianceGenome:HGNC:27737 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 Low expression observed in reference dataset See more
SEPT5-GP1BB, Gene symbol SEPT5-GP1BB Gene description SEPT5-GP1BB readthrough See related Ensembl:ENSG00000284874 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 GP1BB; GPIbB; GPIb-beta Summary This locus represents naturally occurring read-through transcription between the neighboring SEPT5 (septin 5) and GP1BB (glycoprotein Ib (platelet), beta polypeptide) genes on chromosome 22. This read-through transcription arises from inefficient use of an imperfect polyA signal in the upstream SEPT5 gene, whereby transcription continues into the GP1BB gene. Alternative splicing results in multiple read-through variants. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD), and are therefore unlikely to produce protein products. [provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 53.2), heart (RPKM 21.4) and 11 other tissues See more
SEPTIN1, Official Symbol SEPTIN1provided by HGNC Official Full Name septin 1provided by HGNC Primary source HGNC:HGNC:2879 See related Ensembl:ENSG00000180096 MIM:612897; AllianceGenome:HGNC:2879 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 LARP; SEP1; DIFF6; SEPT1; PNUTL3 Summary This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012] Expression Biased expression in lymph node (RPKM 27.2), spleen (RPKM 18.3) and 9 other tissues See more Orthologs mouse all
SEPTIN10, Official Symbol SEPTIN10provided by HGNC Official Full Name septin 10provided by HGNC Primary source HGNC:HGNC:14349 See related Ensembl:ENSG00000186522 MIM:611737; AllianceGenome:HGNC:14349 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 SEPT10 Summary This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in esophagus (RPKM 22.6), testis (RPKM 22.2) and 24 other tissues See more Orthologs mouse all
SEPTIN11, Official Symbol SEPTIN11provided by HGNC Official Full Name septin 11provided by HGNC Primary source HGNC:HGNC:25589 See related Ensembl:ENSG00000138758 MIM:612887; AllianceGenome:HGNC:25589 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 SEPT11 Summary SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009] Expression Ubiquitous expression in placenta (RPKM 24.6), fat (RPKM 23.3) and 25 other tissues See more Orthologs mouse all
SEPTIN12, Official Symbol SEPTIN12provided by HGNC Official Full Name septin 12provided by HGNC Primary source HGNC:HGNC:26348 See related Ensembl:ENSG00000140623 MIM:611562; AllianceGenome:HGNC:26348 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 SEPT12; SPGF10 Summary This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Restricted expression toward testis (RPKM 30.1) See more Orthologs mouse all
SEPTIN14, Official Symbol SEPTIN14provided by HGNC Official Full Name septin 14provided by HGNC Primary source HGNC:HGNC:33280 See related Ensembl:ENSG00000154997 MIM:612140; AllianceGenome:HGNC:33280 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 SEPT14 Summary SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008] Expression Restricted expression toward testis (RPKM 12.4) See more Orthologs mouse all
SEPTIN14P1, Official Symbol SEPTIN14P1provided by HGNC Official Full Name septin 14 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51685 See related AllianceGenome:HGNC:51685 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 SEPT14P1
SEPTIN14P12, Official Symbol SEPTIN14P12provided by HGNC Official Full Name septin 14 pseudogene 12provided by HGNC Primary source HGNC:HGNC:51699 See related AllianceGenome:HGNC:51699 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 SEPT14P12
SEPTIN14P8, Official Symbol SEPTIN14P8provided by HGNC Official Full Name septin 14 pseudogene 8provided by HGNC Primary source HGNC:HGNC:51692 See related AllianceGenome:HGNC:51692 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 SEPT14P8
SEPTIN2, Official Symbol SEPTIN2provided by HGNC Official Full Name septin 2provided by HGNC Primary source HGNC:HGNC:7729 See related Ensembl:ENSG00000168385 MIM:601506; AllianceGenome:HGNC:7729 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 DIFF6; NEDD5; SEPT2; NEDD-5; Pnutl3; hNedd5 Summary Enables identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; regulation of exocytosis; and smoothened signaling pathway. Predicted to act upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and sperm annulus. Part of septin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 77.8), thyroid (RPKM 76.6) and 25 other tissues See more Orthologs mouse all
SEPTIN2P1, Official Symbol SEPTIN2P1provided by HGNC Official Full Name septin 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:40017 See related Ensembl:ENSG00000227850 AllianceGenome:HGNC:40017 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 SEPT2P1
SEPTIN3, Official Symbol SEPTIN3provided by HGNC Official Full Name septin 3provided by HGNC Primary source HGNC:HGNC:10750 See related Ensembl:ENSG00000100167 MIM:608314; AllianceGenome:HGNC:10750 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 SEP3; SEPT3; bK250D10.3 Summary This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2018] Expression Biased expression in brain (RPKM 64.7) and placenta (RPKM 2.6) See more Orthologs mouse all
SEPTIN4, Official Symbol SEPTIN4provided by HGNC Official Full Name septin 4provided by HGNC Primary source HGNC:HGNC:9165 See related Ensembl:ENSG00000108387 MIM:603696; AllianceGenome:HGNC:9165 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 H5; ARTS; MART; SEP4; CE5B3; SEPT4; PNUTL2; hucep-7; BRADEION; C17orf47; hCDCREL-2 Summary This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010] Expression Biased expression in brain (RPKM 37.9), adrenal (RPKM 26.6) and 11 other tissues See more Orthologs mouse all
SEPTIN4-AS1, Official Symbol SEPTIN4-AS1provided by HGNC Official Full Name SEPTIN4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51345 See related Ensembl:ENSG00000264672 AllianceGenome:HGNC:51345 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 SEPT4-AS1 Expression Broad expression in brain (RPKM 17.9), adrenal (RPKM 13.0) and 15 other tissues See more
SEPTIN5, Official Symbol SEPTIN5provided by HGNC Official Full Name septin 5provided by HGNC Primary source HGNC:HGNC:9164 See related Ensembl:ENSG00000184702 MIM:602724; AllianceGenome:HGNC:9164 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 H5; SEPT5; CDCREL; PNUTL1; CDCREL1; CDCREL-1; HCDCREL-1 Summary This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 96.0), heart (RPKM 40.0) and 10 other tissues See more Orthologs mouse all
SEPTIN6, Official Symbol SEPTIN6provided by HGNC Official Full Name septin 6provided by HGNC Primary source HGNC:HGNC:15848 See related Ensembl:ENSG00000125354 MIM:300683; AllianceGenome:HGNC:15848 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 SEP2; SEPT2; SEPT6 Summary This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 36.8), adrenal (RPKM 23.4) and 23 other tissues See more Orthologs mouse all
SEPTIN7, Official Symbol SEPTIN7provided by HGNC Official Full Name septin 7provided by HGNC Primary source HGNC:HGNC:1717 See related Ensembl:ENSG00000122545 MIM:603151; AllianceGenome:HGNC:1717 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 CDC3; CDC10; SEPT7; SEPT7A; NBLA02942 Summary This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011] Expression Ubiquitous expression in brain (RPKM 77.8), lymph node (RPKM 34.7) and 24 other tissues See more Orthologs mouse all
SEPTIN7-DT, Official Symbol SEPTIN7-DTprovided by HGNC Official Full Name SEPTIN7 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:51153 See related AllianceGenome:HGNC:51153 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 SEPT7-AS1; SEPTIN7-AS1 Expression Broad expression in testis (RPKM 1.5), thyroid (RPKM 1.2) and 24 other tissues See more
SEPTIN7P1, Official Symbol SEPTIN7P1provided by HGNC Official Full Name septin 7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19926 See related Ensembl:ENSG00000259090 AllianceGenome:HGNC:19926 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 CDC10P; SEPT7P1
SEPTIN7P10, Official Symbol SEPTIN7P10provided by HGNC Official Full Name septin 7 pseudogene 10provided by HGNC Primary source HGNC:HGNC:55089 See related Ensembl:ENSG00000248885 AllianceGenome:HGNC:55089 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEPTIN7P11, Official Symbol SEPTIN7P11provided by HGNC Official Full Name septin 7 pseudogene 11provided by HGNC Primary source HGNC:HGNC:55090 See related Ensembl:ENSG00000291108 AllianceGenome:HGNC:55090 Gene type pseudo 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 13.8) See more
SEPTIN7P12, Official Symbol SEPTIN7P12provided by HGNC Official Full Name septin 7 pseudogene 12provided by HGNC Primary source HGNC:HGNC:55091 See related Ensembl:ENSG00000275562 AllianceGenome:HGNC:55091 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEPTIN7P15, Official Symbol SEPTIN7P15provided by HGNC Official Full Name septin 7 pseudogene 15provided by HGNC Primary source HGNC:HGNC:55096 See related Ensembl:ENSG00000275061 AllianceGenome:HGNC:55096 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEPTIN7P3, Official Symbol SEPTIN7P3provided by HGNC Official Full Name septin 7 pseudogene 3provided by HGNC Primary source HGNC:HGNC:38038 See related Ensembl:ENSG00000226102 AllianceGenome:HGNC:38038 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 SEPT7P3
SEPTIN7P4, Official Symbol SEPTIN7P4provided by HGNC Official Full Name septin 7 pseudogene 4provided by HGNC Primary source HGNC:HGNC:38039 See related Ensembl:ENSG00000240651 AllianceGenome:HGNC:38039 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 SEPT7P4
SEPTIN7P5, Official Symbol SEPTIN7P5provided by HGNC Official Full Name septin 7 pseudogene 5provided by HGNC Primary source HGNC:HGNC:38041 See related Ensembl:ENSG00000164740 AllianceGenome:HGNC:38041 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 SEPT7P5
SEPTIN7P6, Official Symbol SEPTIN7P6provided by HGNC Official Full Name septin 7 pseudogene 6provided by HGNC Primary source HGNC:HGNC:38042 See related Ensembl:ENSG00000241007 AllianceGenome:HGNC:38042 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 SEPT7P6
SEPTIN7P7, Official Symbol SEPTIN7P7provided by HGNC Official Full Name septin 7 pseudogene 7provided by HGNC Primary source HGNC:HGNC:38043 See related Ensembl:ENSG00000229897 AllianceGenome:HGNC:38043 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 SEPT7P7
SEPTIN7P8, Official Symbol SEPTIN7P8provided by HGNC Official Full Name septin 7 pseudogene 8provided by HGNC Primary source HGNC:HGNC:38044 See related Ensembl:ENSG00000229000 AllianceGenome:HGNC:38044 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 SEPT7P8
SEPTIN8, Official Symbol SEPTIN8provided by HGNC Official Full Name septin 8provided by HGNC Primary source HGNC:HGNC:16511 See related Ensembl:ENSG00000164402 MIM:608418; AllianceGenome:HGNC:16511 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 SEP2; SEPT8 Summary This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in brain (RPKM 43.2), urinary bladder (RPKM 16.3) and 22 other tissues See more Orthologs mouse all
SEPTIN9, Official Symbol SEPTIN9provided by HGNC Official Full Name septin 9provided by HGNC Primary source HGNC:HGNC:7323 See related Ensembl:ENSG00000184640 MIM:604061; AllianceGenome:HGNC:7323 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 MSF; MSF1; NAPB; SEPT9; SINT1; PNUTL4; SeptD1; AF17q25 Summary This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009] Expression Ubiquitous expression in spleen (RPKM 19.8), lymph node (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
SEPTIN9-DT, Official Symbol SEPTIN9-DTprovided by HGNC Official Full Name SEPTIN9 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:52818 See related Ensembl:ENSG00000263718 AllianceGenome:HGNC:52818 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 Low expression observed in reference dataset See more
SERAC1, Official Symbol SERAC1provided by HGNC Official Full Name serine active site containing 1provided by HGNC Primary source HGNC:HGNC:21061 See related Ensembl:ENSG00000122335 MIM:614725; AllianceGenome:HGNC:21061 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 Summary The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in testis (RPKM 4.2), adrenal (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
SERBP1, Official Symbol SERBP1provided by HGNC Official Full Name SERPINE1 mRNA binding protein 1provided by HGNC Primary source HGNC:HGNC:17860 See related Ensembl:ENSG00000142864 MIM:607378; AllianceGenome:HGNC:17860 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-55; CHD3IP; HABP4L; PAIRBP1; PAI-RBP1 Summary Enables SUMO binding activity; mRNA 3'-UTR binding activity; and ribosome binding activity. Involved in PML body organization. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 40.3), thyroid (RPKM 34.9) and 25 other tissues See more Orthologs mouse all
SERBP1P2, Official Symbol SERBP1P2provided by HGNC Official Full Name SERPINE1 mRNA binding protein 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:23967 See related Ensembl:ENSG00000225878 AllianceGenome:HGNC:23967 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SERBP1P3, Official Symbol SERBP1P3provided by HGNC Official Full Name SERPINE1 mRNA binding protein 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:44630 See related AllianceGenome:HGNC:44630 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SERBP1P4, Official Symbol SERBP1P4provided by HGNC Official Full Name SERPINE1 mRNA binding protein 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:44631 See related Ensembl:ENSG00000230275 AllianceGenome:HGNC:44631 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo