psui3905/ncbi_genes_summary huggingface dataset:
SDR39U1, Official Symbol SDR39U1provided by HGNC Official Full Name short chain dehydrogenase/reductase family 39U member 1provided by HGNC Primary source HGNC:HGNC:20275 See related Ensembl:ENSG00000100445 MIM:616162; AllianceGenome:HGNC:20275 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 HCDI; C14orf124 Summary This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in endometrium (RPKM 27.6), fat (RPKM 26.7) and 25 other tissues See more Orthologs mouse all
SDR42E1, Official Symbol SDR42E1provided by HGNC Official Full Name short chain dehydrogenase/reductase family 42E, member 1provided by HGNC Primary source HGNC:HGNC:29834 See related Ensembl:ENSG00000184860 MIM:616164; AllianceGenome:HGNC:29834 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 HSPC105 Summary Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 2.8), duodenum (RPKM 2.0) and 17 other tissues See more Orthologs mouse all
SDR42E1P2, Official Symbol SDR42E1P2provided by HGNC Official Full Name short chain dehydrogenase/reductase family 42E, member 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51833 See related Ensembl:ENSG00000277213 AllianceGenome:HGNC:51833 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SDR42E1P3, Official Symbol SDR42E1P3provided by HGNC Official Full Name short chain dehydrogenase/reductase family 42E, member 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:51834 See related Ensembl:ENSG00000234276 AllianceGenome:HGNC:51834 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SDR42E1P4, Official Symbol SDR42E1P4provided by HGNC Official Full Name short chain dehydrogenase/reductase family 42E, member 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:51835 See related Ensembl:ENSG00000273849 AllianceGenome:HGNC:51835 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SDR42E1P5, Official Symbol SDR42E1P5provided by HGNC Official Full Name short chain dehydrogenase/reductase family 42E, member 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:51832 See related Ensembl:ENSG00000236785 AllianceGenome:HGNC:51832 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SDR42E2, Official Symbol SDR42E2provided by HGNC Official Full Name short chain dehydrogenase/reductase family 42E, member 2provided by HGNC Primary source HGNC:HGNC:35414 See related Ensembl:ENSG00000183921 AllianceGenome:HGNC:35414 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 Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SDR9C7, Official Symbol SDR9C7provided by HGNC Official Full Name short chain dehydrogenase/reductase family 9C member 7provided by HGNC Primary source HGNC:HGNC:29958 See related Ensembl:ENSG00000170426 MIM:609769; AllianceGenome:HGNC:29958 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 RDHS; SDRO; SDR-O; ARCI13 Summary This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010] Expression Biased expression in skin (RPKM 17.6) and esophagus (RPKM 5.2) See more Orthologs mouse all
SDS, Official Symbol SDSprovided by HGNC Official Full Name serine dehydrataseprovided by HGNC Primary source HGNC:HGNC:10691 See related Ensembl:ENSG00000135094 MIM:182128; AllianceGenome:HGNC:10691 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 SDH Summary This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 130.0) and brain (RPKM 4.0) See more Orthologs mouse all
SDSL, Official Symbol SDSLprovided by HGNC Official Full Name serine dehydratase likeprovided by HGNC Primary source HGNC:HGNC:30404 See related Ensembl:ENSG00000139410 AllianceGenome:HGNC:30404 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 TDH; cSDH; SDH 2; SDS-RS1 Summary Enables identical protein binding activity. Predicted to be involved in isoleucine biosynthetic process and threonine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 24 other tissues See more Orthologs mouse all
SEBOX, Official Symbol SEBOXprovided by HGNC Official Full Name SEBOX homeoboxprovided by HGNC Primary source HGNC:HGNC:32942 See related Ensembl:ENSG00000274529 MIM:610975; AllianceGenome:HGNC:32942 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 OG9; OG-9; OG9X Summary Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
SEC11A, Official Symbol SEC11Aprovided by HGNC Official Full Name SEC11 homolog A, signal peptidase complex subunitprovided by HGNC Primary source HGNC:HGNC:17718 See related Ensembl:ENSG00000140612 MIM:618258; AllianceGenome:HGNC:17718 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 SPC18; SPCS4A; SEC11L1; sid2895; 1810012E07Rik Summary This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in thyroid (RPKM 67.9), fat (RPKM 55.2) and 25 other tissues See more Orthologs mouse all
SEC11B, Official Symbol SEC11Bprovided by HGNC Official Full Name SEC11 homolog B, signal peptidase complex subunit (pseudogene)provided by HGNC Primary source HGNC:HGNC:31884 See related AllianceGenome:HGNC:31884 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 SPCS4B; SEC11L2 Summary Predicted to enable peptidase activity. Predicted to be involved in signal peptide processing. Predicted to be integral component of membrane. Predicted to be part of signal peptidase complex. [provided by Alliance of Genome Resources, Apr 2022]
SEC11C, Official Symbol SEC11Cprovided by HGNC Official Full Name SEC11 homolog C, signal peptidase complex subunitprovided by HGNC Primary source HGNC:HGNC:23400 See related Ensembl:ENSG00000166562 AllianceGenome:HGNC:23400 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 SPC21; SPCS4C; SEC11L3 Summary Predicted to enable peptidase activity. Predicted to be involved in signal peptide processing. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of signal peptidase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 109.5), thyroid (RPKM 61.5) and 25 other tissues See more Orthologs mouse all
SEC13, Official Symbol SEC13provided by HGNC Official Full Name SEC13 homolog, nuclear pore and COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:10697 See related Ensembl:ENSG00000157020 MIM:600152; AllianceGenome:HGNC:10697 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 SEC13R; npp-20; SEC13L1; D3S1231E Summary The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in duodenum (RPKM 31.7), small intestine (RPKM 28.0) and 25 other tissues See more Orthologs mouse all
SEC14L1, Official Symbol SEC14L1provided by HGNC Official Full Name SEC14 like lipid binding 1provided by HGNC Primary source HGNC:HGNC:10698 See related Ensembl:ENSG00000129657 MIM:601504; AllianceGenome:HGNC:10698 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 SEC14L; PRELID4A Summary The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in placenta (RPKM 29.8), testis (RPKM 26.1) and 25 other tissues See more Orthologs mouse all
SEC14L1P1, Official Symbol SEC14L1P1provided by HGNC Official Full Name SEC14 like 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44189 See related Ensembl:ENSG00000213693 AllianceGenome:HGNC:44189 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEC14L2, Official Symbol SEC14L2provided by HGNC Official Full Name SEC14 like lipid binding 2provided by HGNC Primary source HGNC:HGNC:10699 See related Ensembl:ENSG00000100003 MIM:607558; AllianceGenome:HGNC:10699 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 SPF; TAP; TAP1; C22orf6 Summary This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in liver (RPKM 34.2), prostate (RPKM 20.5) and 7 other tissues See more Orthologs mouse all
SEC14L3, Official Symbol SEC14L3provided by HGNC Official Full Name SEC14 like lipid binding 3provided by HGNC Primary source HGNC:HGNC:18655 See related Ensembl:ENSG00000100012 MIM:612824; AllianceGenome:HGNC:18655 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 TAP2 Summary The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
SEC14L4, Official Symbol SEC14L4provided by HGNC Official Full Name SEC14 like lipid binding 4provided by HGNC Primary source HGNC:HGNC:20627 See related Ensembl:ENSG00000133488 MIM:612825; AllianceGenome:HGNC:20627 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 TAP3 Summary The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009] Expression Biased expression in liver (RPKM 6.0), lung (RPKM 3.5) and 4 other tissues See more Orthologs all
SEC14L5, Official Symbol SEC14L5provided by HGNC Official Full Name SEC14 like lipid binding 5provided by HGNC Primary source HGNC:HGNC:29032 See related Ensembl:ENSG00000103184 MIM:619412; AllianceGenome:HGNC:29032 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 PRELID4B Expression Biased expression in brain (RPKM 6.8), heart (RPKM 1.4) and 3 other tissues See more Orthologs mouse all
SEC14L6, Official Symbol SEC14L6provided by HGNC Official Full Name SEC14 like lipid binding 6provided by HGNC Primary source HGNC:HGNC:40047 See related Ensembl:ENSG00000214491 AllianceGenome:HGNC:40047 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 lung (RPKM 3.6), kidney (RPKM 2.7) and 10 other tissues See more Orthologs all
SEC16A, Official Symbol SEC16Aprovided by HGNC Official Full Name SEC16 homolog A, endoplasmic reticulum export factorprovided by HGNC Primary source HGNC:HGNC:29006 See related Ensembl:ENSG00000148396 MIM:612854; AllianceGenome:HGNC:29006 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 p250; SEC16L; KIAA0310 Summary This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013] Expression Ubiquitous expression in stomach (RPKM 11.7), bone marrow (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
SEC16B, Official Symbol SEC16Bprovided by HGNC Official Full Name SEC16 homolog B, endoplasmic reticulum export factorprovided by HGNC Primary source HGNC:HGNC:30301 See related Ensembl:ENSG00000120341 MIM:612855; AllianceGenome:HGNC:30301 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 RGPR; LZTR2; SEC16S; PGPR-p117; RGPR-p117 Summary SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009] Expression Broad expression in small intestine (RPKM 16.8), duodenum (RPKM 16.0) and 22 other tissues See more Orthologs mouse all
SEC1P, Official Symbol SEC1Pprovided by HGNC Official Full Name secretory blood group 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44149 See related Ensembl:ENSG00000232871 AllianceGenome:HGNC:44149 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SEC1 Summary Predicted to enable galactoside 2-alpha-L-fucosyltransferase activity. Predicted to act upstream of or within protein glycosylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.7), brain (RPKM 1.0) and 20 other tissues See more
SEC22A, Official Symbol SEC22Aprovided by HGNC Official Full Name SEC22 homolog A, vesicle trafficking proteinprovided by HGNC Primary source HGNC:HGNC:20260 See related Ensembl:ENSG00000121542 MIM:612442; AllianceGenome:HGNC:20260 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 SEC22L2 Summary The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in testis (RPKM 4.5), thyroid (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
SEC22B, Official Symbol SEC22Bprovided by HGNC Official Full Name SEC22 homolog B, vesicle trafficking proteinprovided by HGNC Primary source HGNC:HGNC:10700 See related Ensembl:ENSG00000265808 MIM:604029; AllianceGenome:HGNC:10700 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 ERS-24; SEC22L1 Summary The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in thyroid (RPKM 13.3), fat (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
SEC22C, Official Symbol SEC22Cprovided by HGNC Official Full Name SEC22 homolog C, vesicle trafficking proteinprovided by HGNC Primary source HGNC:HGNC:16828 See related Ensembl:ENSG00000093183 MIM:604028; AllianceGenome:HGNC:16828 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 SEC22L3 Summary This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in prostate (RPKM 10.0), bone marrow (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
SEC23A, Official Symbol SEC23Aprovided by HGNC Official Full Name SEC23 homolog A, COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:10701 See related Ensembl:ENSG00000100934 MIM:610511; AllianceGenome:HGNC:10701 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 CLSD; hSec23A Summary The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 27.6), small intestine (RPKM 25.4) and 24 other tissues See more Orthologs mouse all
SEC23A-AS1, Official Symbol SEC23A-AS1provided by HGNC Official Full Name SEC23A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53213 See related Ensembl:ENSG00000258651 AllianceGenome:HGNC:53213 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 duodenum (RPKM 3.6), urinary bladder (RPKM 2.4) and 25 other tissues See more
SEC23B, Official Symbol SEC23Bprovided by HGNC Official Full Name SEC23 homolog B, COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:10702 See related Ensembl:ENSG00000101310 MIM:610512; AllianceGenome:HGNC:10702 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 CWS7; CDAII; CDAN2; CDA-II; HEMPAS; hSec23B Summary The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in thyroid (RPKM 28.7), testis (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
SEC23IP, Official Symbol SEC23IPprovided by HGNC Official Full Name SEC23 interacting proteinprovided by HGNC Primary source HGNC:HGNC:17018 See related Ensembl:ENSG00000107651 MIM:617852; AllianceGenome:HGNC:17018 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 P125; P125A; iPLA1A; MSTP053; iPLA1beta Summary This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in thyroid (RPKM 7.9), stomach (RPKM 7.7) and 25 other tissues See more Orthologs mouse all
SEC24A, Official Symbol SEC24Aprovided by HGNC Official Full Name SEC24 homolog A, COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:10703 See related Ensembl:ENSG00000113615 MIM:607183; AllianceGenome:HGNC:10703 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 belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in small intestine (RPKM 10.1), duodenum (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
SEC24AP1, Official Symbol SEC24AP1provided by HGNC Official Full Name SEC24 homolog A pseudogene 1provided by HGNC Primary source HGNC:HGNC:53767 See related Ensembl:ENSG00000267361 AllianceGenome:HGNC:53767 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEC24B, Official Symbol SEC24Bprovided by HGNC Official Full Name SEC24 homolog B, COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:10704 See related Ensembl:ENSG00000138802 MIM:607184; AllianceGenome:HGNC:10704 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 SEC24 Summary The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in thyroid (RPKM 10.5), liver (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
SEC24B-AS1, Official Symbol SEC24B-AS1provided by HGNC Official Full Name SEC24B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44003 See related Ensembl:ENSG00000247950 AllianceGenome:HGNC:44003 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 1/2-SBSRNA4 Summary This lncRNA contains a single Alu element which, along with 1/2-sbsRNA3, appears to target the 3' UTR Alu element in MTAP. Downregulation of the RNA appears to up-regulate the target. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in thyroid (RPKM 1.0), ovary (RPKM 0.6) and 24 other tissues See more
SEC24C, Official Symbol SEC24Cprovided by HGNC Official Full Name SEC24 homolog C, COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:10705 See related Ensembl:ENSG00000176986 MIM:607185; AllianceGenome:HGNC:10705 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 member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 30.5), thyroid (RPKM 29.8) and 25 other tissues See more Orthologs mouse all
SEC24D, Official Symbol SEC24Dprovided by HGNC Official Full Name SEC24 homolog D, COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:10706 See related Ensembl:ENSG00000150961 MIM:607186; AllianceGenome:HGNC:10706 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 CLCRP2 Summary The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in thyroid (RPKM 21.6), small intestine (RPKM 18.5) and 25 other tissues See more Orthologs mouse all
SEC31A, Official Symbol SEC31Aprovided by HGNC Official Full Name SEC31 homolog A, COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:17052 See related Ensembl:ENSG00000138674 MIM:610257; AllianceGenome:HGNC:17052 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 HPBKS; ABP125; ABP130; HSPC275; HSPC334; NEDSOSB; SEC31L1 Summary The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in ovary (RPKM 48.8), thyroid (RPKM 42.6) and 25 other tissues See more Orthologs mouse all
SEC31B, Official Symbol SEC31Bprovided by HGNC Official Full Name SEC31 homolog B, COPII coat complex componentprovided by HGNC Primary source HGNC:HGNC:23197 See related Ensembl:ENSG00000075826 MIM:610258; AllianceGenome:HGNC:23197 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 SEC31L2; SEC31B-1 Summary This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 7.5), lymph node (RPKM 6.5) and 24 other tissues See more Orthologs mouse all
SEC61A1, Official Symbol SEC61A1provided by HGNC Official Full Name SEC61 translocon subunit alpha 1provided by HGNC Primary source HGNC:HGNC:18276 See related Ensembl:ENSG00000058262 MIM:609213; AllianceGenome:HGNC:18276 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 HNFJ4; SEC61; ADTKD5; HSEC61; SEC61A Summary The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 81.0), placenta (RPKM 70.7) and 25 other tissues See more Orthologs mouse all
SEC61A2, Official Symbol SEC61A2provided by HGNC Official Full Name SEC61 translocon subunit alpha 2provided by HGNC Primary source HGNC:HGNC:17702 See related Ensembl:ENSG00000065665 MIM:618271; AllianceGenome:HGNC:17702 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 has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] Expression Broad expression in brain (RPKM 12.8), testis (RPKM 10.0) and 24 other tissues See more Orthologs mouse all
SEC61B, Official Symbol SEC61Bprovided by HGNC Official Full Name SEC61 translocon subunit betaprovided by HGNC Primary source HGNC:HGNC:16993 See related Ensembl:ENSG00000106803 MIM:609214; AllianceGenome:HGNC:16993 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 Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 68.2), appendix (RPKM 66.5) and 25 other tissues See more Orthologs mouse all
SEC61G, Official Symbol SEC61Gprovided by HGNC Official Full Name SEC61 translocon subunit gammaprovided by HGNC Primary source HGNC:HGNC:18277 See related Ensembl:ENSG00000132432 MIM:609215; AllianceGenome:HGNC:18277 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 SSS1 Summary The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 71.5), prostate (RPKM 56.4) and 25 other tissues See more Orthologs mouse all
SEC61G-DT, Official Symbol SEC61G-DTprovided by HGNC Official Full Name SEC61G divergent transcriptprovided by HGNC Primary source HGNC:HGNC:40835 See related Ensembl:ENSG00000234707 AllianceGenome:HGNC:40835 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 1.0), thyroid (RPKM 0.9) and 2 other tissues See more
SEC61GP1, Official Symbol SEC61GP1provided by HGNC Official Full Name SEC61G pseudogene 1provided by HGNC Primary source HGNC:HGNC:54783 See related AllianceGenome:HGNC:54783 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEC62, Official Symbol SEC62provided by HGNC Official Full Name SEC62 homolog, preprotein translocation factorprovided by HGNC Primary source HGNC:HGNC:11846 See related Ensembl:ENSG00000008952 MIM:602173; AllianceGenome:HGNC:11846 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 HTP1; TP-1; Dtrp1; TLOC1 Summary The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 46.4), brain (RPKM 36.2) and 25 other tissues See more Orthologs mouse all
SEC62-AS1, Official Symbol SEC62-AS1provided by HGNC Official Full Name SEC62 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40586 See related AllianceGenome:HGNC:40586 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
SEC63, Official Symbol SEC63provided by HGNC Official Full Name SEC63 homolog, protein translocation regulatorprovided by HGNC Primary source HGNC:HGNC:21082 See related Ensembl:ENSG00000025796 MIM:608648; AllianceGenome:HGNC:21082 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 ERdj2; PCLD2; SEC63L; DNAJC23; PRO2507 Summary The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 36.4), testis (RPKM 22.4) and 25 other tissues See more Orthologs mouse all
SEC63P1, Official Symbol SEC63P1provided by HGNC Official Full Name SEC63 homolog, protein translocation regulator pseudogene 1provided by HGNC Primary source HGNC:HGNC:41953 See related Ensembl:ENSG00000228057 AllianceGenome:HGNC:41953 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SEC63P2, Official Symbol SEC63P2provided by HGNC Official Full Name SEC63 homolog, protein translocation regulator pseudogene 2provided by HGNC Primary source HGNC:HGNC:41954 See related Ensembl:ENSG00000250416 AllianceGenome:HGNC:41954 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SECISBP2, Official Symbol SECISBP2provided by HGNC Official Full Name SECIS binding protein 2provided by HGNC Primary source HGNC:HGNC:30972 See related Ensembl:ENSG00000187742 MIM:607693; AllianceGenome:HGNC:30972 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 SBP2; THMA1 Summary The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon, which normally signals translation termination. The recoding of UGA as Sec codon requires a Sec insertion sequence (SECIS) element; present in the 3' untranslated regions of eukaryotic selenoprotein mRNAs. This protein specifically binds to the SECIS element, which is stimulated by a Sec-specific translation elongation factor. Mutations in this gene have been associated with reduction in enzymatic activity of type II iodothyronine deiodinase (a selenoprotein) and abnormal thyroid hormone metabolism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in testis (RPKM 20.1), thyroid (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
SECISBP2L, Official Symbol SECISBP2Lprovided by HGNC Official Full Name SECIS binding protein 2 likeprovided by HGNC Primary source HGNC:HGNC:28997 See related Ensembl:ENSG00000138593 MIM:615756; AllianceGenome:HGNC:28997 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 SLAN; SBP2L Summary Enables RNA binding activity. Predicted to be involved in selenocysteine incorporation. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 34.5), lung (RPKM 24.8) and 25 other tissues See more Orthologs mouse all
SECTM1, Official Symbol SECTM1provided by HGNC Official Full Name secreted and transmembrane 1provided by HGNC Primary source HGNC:HGNC:10707 See related Ensembl:ENSG00000141574 MIM:602602; AllianceGenome:HGNC:10707 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 K12; SECTM Summary This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008] Expression Broad expression in small intestine (RPKM 29.2), duodenum (RPKM 20.3) and 17 other tissues See more Orthologs all
SEH1L, Official Symbol SEH1Lprovided by HGNC Official Full Name SEH1 like nucleoporinprovided by HGNC Primary source HGNC:HGNC:30379 See related Ensembl:ENSG00000085415 MIM:609263; AllianceGenome:HGNC:30379 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 Seh1; SEH1A; SEH1B; SEC13L Summary The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 9.1), lymph node (RPKM 7.7) and 25 other tissues See more Orthologs mouse all