psui3905/ncbi_genes_summary huggingface dataset:
DELE1, Official Symbol DELE1provided by HGNC Official Full Name DAP3 binding cell death enhancer 1provided by HGNC Primary source HGNC:HGNC:28969 See related Ensembl:ENSG00000081791 MIM:615741; AllianceGenome:HGNC:28969 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 DELE; DELE1(L); KIAA0141 Summary Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in HRI-mediated signaling; extrinsic apoptotic signaling pathway via death domain receptors; and regulation of cysteine-type endopeptidase activity involved in apoptotic process. Located in cytosol and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 16.6), spleen (RPKM 16.6) and 25 other tissues See more Orthologs mouse all
DELEC1, Official Symbol DELEC1provided by HGNC Official Full Name deleted in esophageal cancer 1provided by HGNC Primary source HGNC:HGNC:23658 See related Ensembl:ENSG00000173077 MIM:604767; AllianceGenome:HGNC:23658 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 CTS9; DEC1 Summary The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq, Jul 2008] Annotation information Note: DEC1 (Gene ID: 50514) and BHLHE40 (Gene ID: 8553) share the DEC1 symbol/alias in common. DEC1 (differentially expressed in chondrocytes 1) is a widely used alternative name for basic helix-loop-helix family member e40 (BHLHE40), which can be confused with the official symbol for deleted in esophageal cancer 1 (DEC1). [23 May 2018] Expression Low expression observed in reference dataset See more Orthologs all
DENND10P1, Official Symbol DENND10P1provided by HGNC Official Full Name DENND10 pseudogene 1provided by HGNC Primary source HGNC:HGNC:30886 See related AllianceGenome:HGNC:30886 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 HT011; FAM45B; FAM45BP Summary Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in protein transport and regulation of early endosome to late endosome transport. Predicted to be active in late endosome. [provided by Alliance of Genome Resources, Apr 2022]
DENND11, Official Symbol DENND11provided by HGNC Official Full Name DENN domain containing 11provided by HGNC Primary source HGNC:HGNC:29472 See related Ensembl:ENSG00000257093 MIM:620122; AllianceGenome:HGNC:29472 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 LCHN; PRO2561; KIAA1147 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 17.1), thyroid (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
DENND1A, Official Symbol DENND1Aprovided by HGNC Official Full Name DENN domain containing 1Aprovided by HGNC Primary source HGNC:HGNC:29324 See related Ensembl:ENSG00000119522 MIM:613633; AllianceGenome:HGNC:29324 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 FAM31A; KIAA1608 Summary Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in spleen (RPKM 4.6), kidney (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
DENND1B, Official Symbol DENND1Bprovided by HGNC Official Full Name DENN domain containing 1Bprovided by HGNC Primary source HGNC:HGNC:28404 See related Ensembl:ENSG00000213047 MIM:613292; AllianceGenome:HGNC:28404 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 FAM31B; C1ORF18; C1orf218 Summary Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in colon (RPKM 1.5), thyroid (RPKM 1.4) and 25 other tissues See more Orthologs mouse all
DENND1C, Official Symbol DENND1Cprovided by HGNC Official Full Name DENN domain containing 1Cprovided by HGNC Primary source HGNC:HGNC:26225 See related Ensembl:ENSG00000205744 MIM:613634; AllianceGenome:HGNC:26225 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 FAM31C Summary The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by promoting the exchange of RAB35-bound GDP for GTP. This gene may play a role in linking RAB35 activation with the clathrin machinery. [provided by RefSeq, May 2017] Expression Broad expression in lymph node (RPKM 22.3), spleen (RPKM 19.6) and 19 other tissues See more Orthologs mouse all
DENND2A, Official Symbol DENND2Aprovided by HGNC Official Full Name DENN domain containing 2Aprovided by HGNC Primary source HGNC:HGNC:22212 See related Ensembl:ENSG00000146966 MIM:620120; AllianceGenome:HGNC:22212 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 FAM31D; KIAA1277 Summary Enables guanyl-nucleotide exchange factor activity. Involved in retrograde transport, endosome to Golgi. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in endometrium (RPKM 6.4), ovary (RPKM 5.7) and 22 other tissues See more Orthologs mouse all
DENND2B, Official Symbol DENND2Bprovided by HGNC Official Full Name DENN domain containing 2Bprovided by HGNC Primary source HGNC:HGNC:11350 See related Ensembl:ENSG00000166444 MIM:140750; AllianceGenome:HGNC:11350 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 ST5; HTS1; p126 Summary This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 30.7), testis (RPKM 16.0) and 24 other tissues See more Orthologs mouse all
DENND2C, Official Symbol DENND2Cprovided by HGNC Official Full Name DENN domain containing 2Cprovided by HGNC Primary source HGNC:HGNC:24748 See related Ensembl:ENSG00000175984 AllianceGenome:HGNC:24748 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 dJ1156J9.1 Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 11.0), skin (RPKM 6.6) and 10 other tissues See more Orthologs mouse all
DENND2D, Official Symbol DENND2Dprovided by HGNC Official Full Name DENN domain containing 2Dprovided by HGNC Primary source HGNC:HGNC:26192 See related Ensembl:ENSG00000162777 MIM:615111; AllianceGenome:HGNC:26192 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 32.5), appendix (RPKM 17.0) and 20 other tissues See more Orthologs mouse all
DENND3, Official Symbol DENND3provided by HGNC Official Full Name DENN domain containing 3provided by HGNC Primary source HGNC:HGNC:29134 See related Ensembl:ENSG00000105339 MIM:617503; AllianceGenome:HGNC:29134 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in cellular protein catabolic process; endosome to lysosome transport; and regulation of Rab protein signal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 17.0), lung (RPKM 14.2) and 23 other tissues See more Orthologs mouse all
DENND4A, Official Symbol DENND4Aprovided by HGNC Official Full Name DENN domain containing 4Aprovided by HGNC Primary source HGNC:HGNC:24321 See related Ensembl:ENSG00000174485 MIM:600382; AllianceGenome:HGNC:24321 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 IRLB; MYCPBP Summary This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in bone marrow (RPKM 7.2), lymph node (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
DENND4B, Official Symbol DENND4Bprovided by HGNC Official Full Name DENN domain containing 4Bprovided by HGNC Primary source HGNC:HGNC:29044 See related Ensembl:ENSG00000198837 MIM:619843; AllianceGenome:HGNC:29044 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 KIAA0476 Summary Enables guanyl-nucleotide exchange factor activity. Involved in regulation of Rab protein signal transduction. Located in Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 20.1), lymph node (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
DENND4C, Official Symbol DENND4Cprovided by HGNC Official Full Name DENN domain containing 4Cprovided by HGNC Primary source HGNC:HGNC:26079 See related Ensembl:ENSG00000137145 AllianceGenome:HGNC:26079 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 C9orf55; C9orf55B; RAB10GEF; bA513M16.3 Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in cellular response to insulin stimulus; protein localization to plasma membrane; and regulation of Rab protein signal transduction. Located in Golgi apparatus and cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 11.5), skin (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
DENND5A, Official Symbol DENND5Aprovided by HGNC Official Full Name DENN domain containing 5Aprovided by HGNC Primary source HGNC:HGNC:19344 See related Ensembl:ENSG00000184014 MIM:617278; AllianceGenome:HGNC:19344 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 DEE49; EIEE49; RAB6IP1 Summary This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in brain (RPKM 36.4), heart (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
DENND5B-AS1, Official Symbol DENND5B-AS1provided by HGNC Official Full Name DENND5B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42517 See related Ensembl:ENSG00000255867 AllianceGenome:HGNC:42517 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 kidney (RPKM 18.8), liver (RPKM 6.0) and 12 other tissues See more
DENND6A, Official Symbol DENND6Aprovided by HGNC Official Full Name DENN domain containing 6Aprovided by HGNC Primary source HGNC:HGNC:26635 See related Ensembl:ENSG00000174839 AllianceGenome:HGNC:26635 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 AFI1A; FAM116A Summary Enables guanyl-nucleotide exchange factor activity. Involved in positive regulation of cell-cell adhesion mediated by cadherin. Located in recycling endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 8.9), thyroid (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
DENND6A-DT, Official Symbol DENND6A-DTprovided by HGNC Official Full Name DENND6A divergent transcriptprovided by HGNC Primary source HGNC:HGNC:51592 See related Ensembl:ENSG00000241933 AllianceGenome:HGNC:51592 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
DENND6B, Official Symbol DENND6Bprovided by HGNC Official Full Name DENN domain containing 6Bprovided by HGNC Primary source HGNC:HGNC:32690 See related Ensembl:ENSG00000205593 AllianceGenome:HGNC:32690 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 AFI1B; FAM116B Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. Predicted to be located in cytosol. Predicted to be active in recycling endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 4.5), testis (RPKM 3.3) and 24 other tissues See more Orthologs mouse all
DENR, Official Symbol DENRprovided by HGNC Official Full Name density regulated re-initiation and release factorprovided by HGNC Primary source HGNC:HGNC:2769 See related Ensembl:ENSG00000139726 MIM:604550; AllianceGenome:HGNC:2769 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 DRP; DRP1; SMAP-3 Summary This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 16.4), lymph node (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
DEPDC1, Official Symbol DEPDC1provided by HGNC Official Full Name DEP domain containing 1provided by HGNC Primary source HGNC:HGNC:22949 See related Ensembl:ENSG00000024526 MIM:612002; AllianceGenome:HGNC:22949 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 DEP.8; SDP35; DEPDC1A; DEPDC1-V2 Summary Predicted to enable GTPase activator activity. Involved in negative regulation of transcription, DNA-templated. Located in nucleus. Part of transcription repressor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 5.4), lymph node (RPKM 3.0) and 13 other tissues See more Orthologs mouse all
DEPDC1-AS1, Official Symbol DEPDC1-AS1provided by HGNC Official Full Name DEPDC1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50592 See related Ensembl:ENSG00000234264 AllianceGenome:HGNC:50592 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
DEPDC1B, Official Symbol DEPDC1Bprovided by HGNC Official Full Name DEP domain containing 1Bprovided by HGNC Primary source HGNC:HGNC:24902 See related Ensembl:ENSG00000035499 MIM:616073; AllianceGenome:HGNC:24902 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 XTP1; BRCC3 Summary Predicted to enable GTPase activator activity. Involved in cell migration and positive regulation of Wnt signaling pathway. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 6.2), testis (RPKM 3.3) and 14 other tissues See more Orthologs mouse all
DEPDC4, Official Symbol DEPDC4provided by HGNC Official Full Name DEP domain containing 4provided by HGNC Primary source HGNC:HGNC:22952 See related Ensembl:ENSG00000166153 AllianceGenome:HGNC:22952 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 DEP.4 Summary Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.0), kidney (RPKM 0.3) and 22 other tissues See more Orthologs all
DEPDC5, Official Symbol DEPDC5provided by HGNC Official Full Name DEP domain containing 5, GATOR1 subcomplex subunitprovided by HGNC Primary source HGNC:HGNC:18423 See related Ensembl:ENSG00000100150 MIM:614191; AllianceGenome:HGNC:18423 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 DEP.5; FFEVF; FPEVF; FFEVF1 Summary This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 3.5), ovary (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
DEPDC7, Official Symbol DEPDC7provided by HGNC Official Full Name DEP domain containing 7provided by HGNC Primary source HGNC:HGNC:29899 See related Ensembl:ENSG00000121690 MIM:612294; AllianceGenome:HGNC:29899 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 TR2; dJ85M6.4 Summary Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 15.2), testis (RPKM 15.0) and 9 other tissues See more Orthologs mouse all
DEPP1, Official Symbol DEPP1provided by HGNC Official Full Name DEPP autophagy regulator 1provided by HGNC Primary source HGNC:HGNC:23355 See related Ensembl:ENSG00000165507 MIM:611309; AllianceGenome:HGNC:23355 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 FIG; DEPP; Fseg; C10orf10 Summary The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 86.3), endometrium (RPKM 51.4) and 24 other tissues See more Orthologs mouse all
DEPTOR, Official Symbol DEPTORprovided by HGNC Official Full Name DEP domain containing MTOR interacting proteinprovided by HGNC Primary source HGNC:HGNC:22953 See related Ensembl:ENSG00000155792 MIM:612974; AllianceGenome:HGNC:22953 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 DEP.6; DEPDC6 Summary Involved in several processes, including negative regulation of TOR signaling; negative regulation of cell size; and negative regulation of protein kinase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 29.3), adrenal (RPKM 13.7) and 17 other tissues See more Orthologs mouse all
DERA, Official Symbol DERAprovided by HGNC Official Full Name deoxyribose-phosphate aldolaseprovided by HGNC Primary source HGNC:HGNC:24269 See related Ensembl:ENSG00000023697 MIM:619668; AllianceGenome:HGNC:24269 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 DEOC; CGI-26 Summary Enables deoxyribose-phosphate aldolase activity. Involved in deoxyribonucleoside catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in small intestine (RPKM 26.2), kidney (RPKM 24.6) and 25 other tissues See more Orthologs mouse all
DERL1, Official Symbol DERL1provided by HGNC Official Full Name derlin 1provided by HGNC Primary source HGNC:HGNC:28454 See related Ensembl:ENSG00000136986 MIM:608813; AllianceGenome:HGNC:28454 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 DER1; DER-1; derlin-1 Summary The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in thyroid (RPKM 22.2), fat (RPKM 21.9) and 25 other tissues See more Orthologs mouse all
DERL2, Official Symbol DERL2provided by HGNC Official Full Name derlin 2provided by HGNC Primary source HGNC:HGNC:17943 See related Ensembl:ENSG00000072849 MIM:610304; AllianceGenome:HGNC:17943 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 FLANa; F-LANa; CGI-101; F-LAN-1; derlin-2; DERtrin-2 Summary Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
DERL3, Official Symbol DERL3provided by HGNC Official Full Name derlin 3provided by HGNC Primary source HGNC:HGNC:14236 See related Ensembl:ENSG00000099958 MIM:610305; AllianceGenome:HGNC:14236 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 IZP6; LLN2; C22orf14; derlin-3 Summary The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] Expression Broad expression in stomach (RPKM 12.2), duodenum (RPKM 11.1) and 22 other tissues See more Orthologs mouse all
DERPC, Official Symbol DERPCprovided by HGNC Official Full Name DERPC proline and glycine rich nuclear proteinprovided by HGNC Primary source HGNC:HGNC:54084 See related Ensembl:ENSG00000286140 AllianceGenome:HGNC:54084 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 Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
DESI1, Official Symbol DESI1provided by HGNC Official Full Name desumoylating isopeptidase 1provided by HGNC Primary source HGNC:HGNC:24577 See related Ensembl:ENSG00000100418 MIM:614637; AllianceGenome:HGNC:24577 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 POST; DESI2; DeSI-1; PPPDE2; FAM152B; D15Wsu75e; DJ347H13.4 Summary Enables importin-alpha family protein binding activity. Involved in protein export from nucleus and regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytosol. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.4), esophagus (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
DESI2, Official Symbol DESI2provided by HGNC Official Full Name desumoylating isopeptidase 2provided by HGNC Primary source HGNC:HGNC:24264 See related Ensembl:ENSG00000121644 MIM:614638; AllianceGenome:HGNC:24264 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 DESI; DESI1; DeSI-2; PNAS-4; PPPDE1; CGI-146; FAM152A; C1orf121 Summary Enables Lys48-specific deubiquitinase activity; Lys63-specific deubiquitinase activity; and thiol-dependent deubiquitinase. Predicted to be involved in protein deubiquitination. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 26.2), thyroid (RPKM 11.1) and 24 other tissues See more Orthologs mouse all
DET1, Official Symbol DET1provided by HGNC Official Full Name DET1 partner of COP1 E3 ubiquitin ligaseprovided by HGNC Primary source HGNC:HGNC:25477 See related Ensembl:ENSG00000140543 MIM:608727; AllianceGenome:HGNC:25477 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables ubiquitin ligase-substrate adaptor activity and ubiquitin protein ligase binding activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein ubiquitination; and protein-containing complex assembly. Part of Cul4A-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
DEUP1, Official Symbol DEUP1provided by HGNC Official Full Name deuterosome assembly protein 1provided by HGNC Primary source HGNC:HGNC:26344 See related Ensembl:ENSG00000165325 MIM:617148; AllianceGenome:HGNC:26344 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 CCDC67 Summary Enables identical protein binding activity. Predicted to be involved in centriole replication and de novo centriole assembly involved in multi-ciliated epithelial cell differentiation. Predicted to be located in cytoplasm. Predicted to be integral component of membrane. Predicted to be active in centriole and deuterosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 5.7) See more Orthologs mouse all
DEXI, Official Symbol DEXIprovided by HGNC Official Full Name Dexi homologprovided by HGNC Primary source HGNC:HGNC:13267 See related Ensembl:ENSG00000182108 MIM:617901; AllianceGenome:HGNC:13267 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 MYLE Expression Ubiquitous expression in adrenal (RPKM 14.1), heart (RPKM 12.8) and 25 other tissues See more Orthologs mouse all
DFFA, Official Symbol DFFAprovided by HGNC Official Full Name DNA fragmentation factor subunit alphaprovided by HGNC Primary source HGNC:HGNC:2772 See related Ensembl:ENSG00000160049 MIM:601882; AllianceGenome:HGNC:2772 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 DFF1; ICAD; DFF-45 Summary Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 6.3), kidney (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
DFFB, Official Symbol DFFBprovided by HGNC Official Full Name DNA fragmentation factor subunit betaprovided by HGNC Primary source HGNC:HGNC:2773 See related Ensembl:ENSG00000169598 MIM:601883; AllianceGenome:HGNC:2773 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 CAD; CPAN; DFF2; DFF40; DFF-40 Summary Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in duodenum (RPKM 1.4), spleen (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
DFFBP1, Official Symbol DFFBP1provided by HGNC Official Full Name DNA fragmentation factor subunit beta pseudogene 1provided by HGNC Primary source HGNC:HGNC:49815 See related Ensembl:ENSG00000232303 AllianceGenome:HGNC:49815 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DGAT1, Official Symbol DGAT1provided by HGNC Official Full Name diacylglycerol O-acyltransferase 1provided by HGNC Primary source HGNC:HGNC:2843 See related Ensembl:ENSG00000185000 MIM:604900; AllianceGenome:HGNC:2843 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 ARAT; DGAT; ARGP1; DIAR7 Summary This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013] Expression Broad expression in small intestine (RPKM 98.7), duodenum (RPKM 96.5) and 20 other tissues See more Orthologs mouse all
DGAT2, Official Symbol DGAT2provided by HGNC Official Full Name diacylglycerol O-acyltransferase 2provided by HGNC Primary source HGNC:HGNC:16940 See related Ensembl:ENSG00000062282 MIM:606983; AllianceGenome:HGNC:16940 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 ARAT; HMFN1045; GS1999FULL Summary This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in fat (RPKM 381.0), liver (RPKM 87.8) and 1 other tissue See more Orthologs mouse all
DGAT2L6, Official Symbol DGAT2L6provided by HGNC Official Full Name diacylglycerol O-acyltransferase 2 like 6provided by HGNC Primary source HGNC:HGNC:23250 See related Ensembl:ENSG00000184210 MIM:300926; AllianceGenome:HGNC:23250 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 DC3 Summary This gene is a member of the diacylglycerol acyltransferase 2 family. The encoded protein is a putative acyltransferase and is most likely involved in the synthesis of di- or triacylglycerol, however its substrate specificity is currently unknown. [provided by RefSeq, Feb 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
DGAT2L7P, Official Symbol DGAT2L7Pprovided by HGNC Official Full Name diacylglycerol O-acyltransferase 2 like 7, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44367 See related Ensembl:ENSG00000205267 AllianceGenome:HGNC:44367 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 DGAT2L7 Summary Enables diacylglycerol O-acyltransferase activity. Predicted to be involved in triglyceride biosynthetic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
DGCR11, Official Symbol DGCR11provided by HGNC Official Full Name DiGeorge syndrome critical region gene 11provided by HGNC Primary source HGNC:HGNC:17226 See related Ensembl:ENSG00000273311 AllianceGenome:HGNC:17226 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 DGS-D
DGCR2, Official Symbol DGCR2provided by HGNC Official Full Name DiGeorge syndrome critical region gene 2provided by HGNC Primary source HGNC:HGNC:2845 See related Ensembl:ENSG00000070413 MIM:600594; AllianceGenome:HGNC:2845 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 IDD; LAN; DGS-C; SEZ-12 Summary Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Ubiquitous expression in brain (RPKM 24.0), skin (RPKM 23.8) and 25 other tissues See more Orthologs mouse all
DGCR6, Official Symbol DGCR6provided by HGNC Official Full Name DiGeorge syndrome critical region gene 6provided by HGNC Primary source HGNC:HGNC:2846 See related Ensembl:ENSG00000183628 Ensembl:ENSG00000278817 MIM:601279; AllianceGenome:HGNC:2846 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 DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008] Expression Broad expression in heart (RPKM 20.8), testis (RPKM 17.8) and 25 other tissues See more Orthologs all
DGCR6L, Official Symbol DGCR6Lprovided by HGNC Official Full Name DiGeorge syndrome critical region gene 6 likeprovided by HGNC Primary source HGNC:HGNC:18551 See related Ensembl:ENSG00000128185 MIM:609459; AllianceGenome:HGNC:18551 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 DGCR6 Summary This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 44.7), kidney (RPKM 21.1) and 25 other tissues See more Orthologs all
DGCR8, Official Symbol DGCR8provided by HGNC Official Full Name DGCR8 microprocessor complex subunitprovided by HGNC Primary source HGNC:HGNC:2847 See related Ensembl:ENSG00000128191 MIM:609030; AllianceGenome:HGNC:2847 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 Gy1; pasha; DGCRK6; C22orf12 Summary This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in testis (RPKM 13.8), placenta (RPKM 10.2) and 25 other tissues See more Orthologs mouse all
DGKA, Official Symbol DGKAprovided by HGNC Official Full Name diacylglycerol kinase alphaprovided by HGNC Primary source HGNC:HGNC:2849 See related Ensembl:ENSG00000065357 MIM:125855; AllianceGenome:HGNC:2849 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 DAGK; DAGK1; DGK-alpha Summary The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Several transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2017] Expression Broad expression in lymph node (RPKM 36.2), skin (RPKM 31.7) and 19 other tissues See more Orthologs mouse all