psui3905/ncbi_genes_summary huggingface dataset:
DCUN1D1, Official Symbol DCUN1D1provided by HGNC Official Full Name defective in cullin neddylation 1 domain containing 1provided by HGNC Primary source HGNC:HGNC:18184 See related Ensembl:ENSG00000043093 MIM:605905; AllianceGenome:HGNC:18184 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 RP42; SCRO; Tes3; DCNL1; SCCRO; DCUN1L1 Summary Enables cullin family protein binding activity. Involved in positive regulation of protein neddylation and regulation of protein ubiquitination. Located in cytosol and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 16.2), bone marrow (RPKM 6.8) and 24 other tissues See more Orthologs mouse all
DCUN1D2, Official Symbol DCUN1D2provided by HGNC Official Full Name defective in cullin neddylation 1 domain containing 2provided by HGNC Primary source HGNC:HGNC:20328 See related Ensembl:ENSG00000150401 AllianceGenome:HGNC:20328 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 DCNL2; C13orf17 Summary Enables cullin family protein binding activity. Involved in positive regulation of protein neddylation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 8.1), testis (RPKM 2.5) and 23 other tissues See more Orthologs mouse all
DCUN1D3, Official Symbol DCUN1D3provided by HGNC Official Full Name defective in cullin neddylation 1 domain containing 3provided by HGNC Primary source HGNC:HGNC:28734 See related Ensembl:ENSG00000188215 MIM:616167; AllianceGenome:HGNC:28734 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 DCNL3; 44M2.4; SCCRO3 Summary Enables cullin family protein binding activity. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle; regulation of protein neddylation; and response to UV-C. Located in nucleus; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 6.0), gall bladder (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
DCUN1D4, Official Symbol DCUN1D4provided by HGNC Official Full Name defective in cullin neddylation 1 domain containing 4provided by HGNC Primary source HGNC:HGNC:28998 See related Ensembl:ENSG00000109184 MIM:612977; AllianceGenome:HGNC:28998 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 DCNL4 Summary Enables cullin family protein binding activity. Involved in positive regulation of protein neddylation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.1), adrenal (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
DCUN1D5, Official Symbol DCUN1D5provided by HGNC Official Full Name defective in cullin neddylation 1 domain containing 5provided by HGNC Primary source HGNC:HGNC:28409 See related Ensembl:ENSG00000137692 MIM:616522; AllianceGenome:HGNC:28409 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 DCNL5; SCCRO5 Summary Enables cullin family protein binding activity. Involved in cellular response to DNA damage stimulus; positive regulation of protein neddylation; and regulation of cell growth. Located in nucleus and spindle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 3.6), fat (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
DCX, Official Symbol DCXprovided by HGNC Official Full Name doublecortinprovided by HGNC Primary source HGNC:HGNC:2714 See related Ensembl:ENSG00000077279 MIM:300121; AllianceGenome:HGNC:2714 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 DC; DBCN; LISX; SCLH; XLIS Summary This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] Expression Biased expression in brain (RPKM 4.3) and endometrium (RPKM 1.0) See more Orthologs mouse all
DCXR, Official Symbol DCXRprovided by HGNC Official Full Name dicarbonyl and L-xylulose reductaseprovided by HGNC Primary source HGNC:HGNC:18985 See related Ensembl:ENSG00000169738 MIM:608347; AllianceGenome:HGNC:18985 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 XR; DCR; HCR2; P34H; HCRII; KIDCR; PNTSU; SDR20C1 Summary The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010] Expression Biased expression in liver (RPKM 345.1), kidney (RPKM 158.4) and 7 other tissues See more Orthologs mouse all
DCXR-DT, Official Symbol DCXR-DTprovided by HGNC Official Full Name DCXR divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54083 See related Ensembl:ENSG00000264569 AllianceGenome:HGNC:54083 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDA1, Official Symbol DDA1provided by HGNC Official Full Name DET1 and DDB1 associated 1provided by HGNC Primary source HGNC:HGNC:28360 See related Ensembl:ENSG00000130311 AllianceGenome:HGNC:28360 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 PCIA1; C19orf58 Summary Involved in protein polyubiquitination. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 7.7), brain (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
DDAH1, Official Symbol DDAH1provided by HGNC Official Full Name dimethylarginine dimethylaminohydrolase 1provided by HGNC Primary source HGNC:HGNC:2715 See related Ensembl:ENSG00000153904 MIM:604743; AllianceGenome:HGNC:2715 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 DDAH; DDAHI; DDAH-1; HEL-S-16 Summary This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 34.4), brain (RPKM 28.2) and 21 other tissues See more Orthologs mouse all
DDAH2, Official Symbol DDAH2provided by HGNC Official Full Name DDAH family member 2, ADMA-independentprovided by HGNC Primary source HGNC:HGNC:2716 See related Ensembl:ENSG00000213722 MIM:604744; AllianceGenome:HGNC:2716 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 G6a; DDAH; NG30; DDAHII; HEL-S-277 Summary This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in endometrium (RPKM 29.0), fat (RPKM 28.2) and 24 other tissues See more Orthologs mouse all
DDB1, Official Symbol DDB1provided by HGNC Official Full Name damage specific DNA binding protein 1provided by HGNC Primary source HGNC:HGNC:2717 See related Ensembl:ENSG00000167986 MIM:600045; AllianceGenome:HGNC:2717 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 XPE; DDBA; XAP1; XPCE; XPE-BF; UV-DDB1; WHIKERS Summary The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012] Expression Ubiquitous expression in adrenal (RPKM 89.2), placenta (RPKM 76.1) and 25 other tissues See more Orthologs mouse all
DDB2, Official Symbol DDB2provided by HGNC Official Full Name damage specific DNA binding protein 2provided by HGNC Primary source HGNC:HGNC:2718 See related Ensembl:ENSG00000134574 MIM:600811; AllianceGenome:HGNC:2718 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 XPE; DDBB; UV-DDB2 Summary This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in skin (RPKM 32.0), esophagus (RPKM 13.6) and 24 other tissues See more Orthologs mouse all
DDC, Official Symbol DDCprovided by HGNC Official Full Name dopa decarboxylaseprovided by HGNC Primary source HGNC:HGNC:2719 See related Ensembl:ENSG00000132437 MIM:107930; AllianceGenome:HGNC:2719 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 AADC Summary The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011] Expression Biased expression in kidney (RPKM 112.5), small intestine (RPKM 59.9) and 5 other tissues See more Orthologs mouse all
DDC-AS1, Official Symbol DDC-AS1provided by HGNC Official Full Name DDC antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40171 See related Ensembl:ENSG00000226122 AllianceGenome:HGNC:40171 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 7.2), small intestine (RPKM 3.6) and 5 other tissues See more
DDHD1, Official Symbol DDHD1provided by HGNC Official Full Name DDHD domain containing 1provided by HGNC Primary source HGNC:HGNC:19714 See related Ensembl:ENSG00000100523 MIM:614603; AllianceGenome:HGNC:19714 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 SPG28; PAPLA1; iPLA1I; PA-PLA1; iPLA1alpha Summary This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Broad expression in testis (RPKM 6.6), lymph node (RPKM 2.8) and 24 other tissues See more Orthologs mouse all
DDHD2, Official Symbol DDHD2provided by HGNC Official Full Name DDHD domain containing 2provided by HGNC Primary source HGNC:HGNC:29106 See related Ensembl:ENSG00000085788 MIM:615003; AllianceGenome:HGNC:29106 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 SPG54; p125B; SAMWD1; iPLA1A; iPLA1gamma; iPLA(1)gamma Summary This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in brain (RPKM 15.7), fat (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
DDI1, Official Symbol DDI1provided by HGNC Official Full Name DNA damage inducible 1 homolog 1provided by HGNC Primary source HGNC:HGNC:18961 See related Ensembl:ENSG00000170967 AllianceGenome:HGNC:18961 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 aspartic-type endopeptidase activity. Involved in several processes, including cellular response to hydroxyurea; proteasomal protein catabolic process; and regulation of DNA stability. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
DDI2, Official Symbol DDI2provided by HGNC Official Full Name DNA damage inducible 1 homolog 2provided by HGNC Primary source HGNC:HGNC:24578 See related Ensembl:ENSG00000197312 AllianceGenome:HGNC:24578 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 aspartic-type endopeptidase activity; identical protein binding activity; and ubiquitin binding activity. Involved in several processes, including cellular response to hydroxyurea; proteolysis; and regulation of DNA stability. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 7.7), kidney (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
DDIAS, Official Symbol DDIASprovided by HGNC Official Full Name DNA damage induced apoptosis suppressorprovided by HGNC Primary source HGNC:HGNC:26351 See related Ensembl:ENSG00000165490 MIM:618045; AllianceGenome:HGNC:26351 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 noxin; C11orf82 Summary Involved in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage and regulation of DNA stability. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 5.9), lymph node (RPKM 1.9) and 14 other tissues See more Orthologs mouse all
DDIT3, Official Symbol DDIT3provided by HGNC Official Full Name DNA damage inducible transcript 3provided by HGNC Primary source HGNC:HGNC:2726 See related Ensembl:ENSG00000175197 MIM:126337; AllianceGenome:HGNC:2726 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 CHOP; CEBPZ; CHOP10; CHOP-10; GADD153; AltDDIT3; C/EBPzeta Summary This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010] Annotation information Note: CEBPZ (Gene ID: 10153) and DDIT3 (Gene ID: 1649) share the CEBPZ symbol/alias. CEBPZ is a widely used alternative name for DNA damage inducible transcript 3 (DDIT3), which can be confused with the official symbol for CEBPZ (CCAAT enhancer binding protein zeta, GeneID: 10153). [12 Nov 2020] Expression Broad expression in thyroid (RPKM 74.2), bone marrow (RPKM 47.3) and 24 other tissues See more Orthologs mouse all
DDIT4, Official Symbol DDIT4provided by HGNC Official Full Name DNA damage inducible transcript 4provided by HGNC Primary source HGNC:HGNC:24944 See related Ensembl:ENSG00000168209 MIM:607729; AllianceGenome:HGNC:24944 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 Dig2; REDD1; REDD-1 Summary Predicted to enable 14-3-3 protein binding activity. Involved in defense response to virus; negative regulation of TOR signaling; and response to hypoxia. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 89.7), fat (RPKM 84.2) and 25 other tissues See more Orthologs mouse all
DDIT4L, Official Symbol DDIT4Lprovided by HGNC Official Full Name DNA damage inducible transcript 4 likeprovided by HGNC Primary source HGNC:HGNC:30555 See related Ensembl:ENSG00000145358 MIM:607730; AllianceGenome:HGNC:30555 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 REDD2; Rtp801L Summary Predicted to be involved in negative regulation of signal transduction. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 12.6), kidney (RPKM 5.8) and 10 other tissues See more Orthologs mouse all
DDN-AS1, Official Symbol DDN-AS1provided by HGNC Official Full Name DDN and PRKAG1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53464 See related Ensembl:ENSG00000257913 AllianceGenome:HGNC:53464 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 CAT1507 Expression Biased expression in brain (RPKM 18.5), kidney (RPKM 13.3) and 8 other tissues See more
DDO, Official Symbol DDOprovided by HGNC Official Full Name D-aspartate oxidaseprovided by HGNC Primary source HGNC:HGNC:2727 See related Ensembl:ENSG00000203797 MIM:124450; AllianceGenome:HGNC:2727 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 DASOX; DASPO; DDO-1; DDO-2 Summary The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2019] Expression Broad expression in heart (RPKM 7.9), kidney (RPKM 5.9) and 20 other tissues See more Orthologs mouse all
DDOST, Official Symbol DDOSTprovided by HGNC Official Full Name dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunitprovided by HGNC Primary source HGNC:HGNC:2728 See related Ensembl:ENSG00000244038 MIM:602202; AllianceGenome:HGNC:2728 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 OST; WBP1; AGER1; CDG1R; GATD6; OST48; OKSWcl45 Summary This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 112.6), placenta (RPKM 100.3) and 25 other tissues See more Orthologs mouse all
DDR1, Official Symbol DDR1provided by HGNC Official Full Name discoidin domain receptor tyrosine kinase 1provided by HGNC Primary source HGNC:HGNC:2730 See related Ensembl:ENSG00000204580 MIM:600408; AllianceGenome:HGNC:2730 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 CAK; DDR; NEP; HGK2; PTK3; RTK6; TRKE; CD167; EDDR1; MCK10; NTRK4; PTK3A Summary Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in brain (RPKM 49.5), thyroid (RPKM 24.8) and 22 other tissues See more Orthologs mouse all
DDR2, Official Symbol DDR2provided by HGNC Official Full Name discoidin domain receptor tyrosine kinase 2provided by HGNC Primary source HGNC:HGNC:2731 See related Ensembl:ENSG00000162733 MIM:191311; AllianceGenome:HGNC:2731 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 TKT; WRCN; MIG20a; NTRKR3; TYRO10 Summary This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017] Expression Broad expression in fat (RPKM 30.2), adrenal (RPKM 24.5) and 20 other tissues See more Orthologs mouse all
DDRGK1, Official Symbol DDRGK1provided by HGNC Official Full Name DDRGK domain containing 1provided by HGNC Primary source HGNC:HGNC:16110 See related Ensembl:ENSG00000198171 MIM:616177; AllianceGenome:HGNC:16110 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 UFBP1; SEMDSH; C20orf116; dJ1187M17.3 Summary The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-&#954;B activity. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 21.4) and 25 other tissues See more Orthologs mouse all
DDT, Official Symbol DDTprovided by HGNC Official Full Name D-dopachrome tautomeraseprovided by HGNC Primary source HGNC:HGNC:2732 See related Ensembl:ENSG00000099977 MIM:602750; AllianceGenome:HGNC:2732 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 D-DT; DDCT; MIF2; MIF-2 Summary D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 108.4), kidney (RPKM 65.2) and 23 other tissues See more Orthologs mouse all
DDTL, Official Symbol DDTLprovided by HGNC Official Full Name D-dopachrome tautomerase likeprovided by HGNC Primary source HGNC:HGNC:33446 See related Ensembl:ENSG00000099974 AllianceGenome:HGNC:33446 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 DDT; KB-226F1.2 Summary Predicted to enable lyase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 19.3), kidney (RPKM 12.1) and 25 other tissues See more Orthologs all
DDTP1, Official Symbol DDTP1provided by HGNC Official Full Name D-dopachrome tautomerase pseudogene 1provided by HGNC Primary source HGNC:HGNC:44546 See related Ensembl:ENSG00000230683 AllianceGenome:HGNC:44546 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX1, Official Symbol DDX1provided by HGNC Official Full Name DEAD-box helicase 1provided by HGNC Primary source HGNC:HGNC:2734 See related Ensembl:ENSG00000079785 MIM:601257; AllianceGenome:HGNC:2734 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 DBP-RB; UKVH5d Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that acts as an ATP-dependent RNA helicase that has been found to promote coronaviruses replication. [provided by RefSeq, Aug 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Ubiquitous expression in thyroid (RPKM 36.4), brain (RPKM 36.1) and 25 other tissues See more Orthologs mouse all
DDX10, Official Symbol DDX10provided by HGNC Official Full Name DEAD-box helicase 10provided by HGNC Primary source HGNC:HGNC:2735 See related Ensembl:ENSG00000178105 MIM:601235; AllianceGenome:HGNC:2735 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 Dbp4; HRH-J8 Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 11.2), kidney (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
DDX10P1, Official Symbol DDX10P1provided by HGNC Official Full Name DEAD-box helicase 10 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44960 See related Ensembl:ENSG00000237135 AllianceGenome:HGNC:44960 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX11, Official Symbol DDX11provided by HGNC Official Full Name DEAD/H-box helicase 11provided by HGNC Primary source HGNC:HGNC:2736 See related Ensembl:ENSG00000013573 MIM:601150; AllianceGenome:HGNC:2736 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 CHL1; KRG2; WABS; CHLR1 Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 6.8), lymph node (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
DDX11-AS1, Official Symbol DDX11-AS1provided by HGNC Official Full Name DDX11 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44176 See related Ensembl:ENSG00000245614 AllianceGenome:HGNC:44176 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 CONCR; SCAT4 Expression Low expression observed in reference dataset See more
DDX11L16, Official Symbol DDX11L16provided by HGNC Official Full Name DEAD/H-box helicase 11 like 16 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37115 See related AllianceGenome:HGNC:37115 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 3.0), fat (RPKM 1.1) and 18 other tissues See more
DDX11L5, Official Symbol DDX11L5provided by HGNC Official Full Name DEAD/H-box helicase 11 like 5 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37106 See related AllianceGenome:HGNC:37106 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 3.8), fat (RPKM 1.2) and 17 other tissues See more
DDX11L9, Official Symbol DDX11L9provided by HGNC Official Full Name DEAD/H-box helicase 11 like 9 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37109 See related Ensembl:ENSG00000290824 AllianceGenome:HGNC:37109 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in ovary (RPKM 5.4), testis (RPKM 4.2) and 17 other tissues See more
DDX17, Official Symbol DDX17provided by HGNC Official Full Name DEAD-box helicase 17provided by HGNC Primary source HGNC:HGNC:2740 See related Ensembl:ENSG00000100201 MIM:608469; AllianceGenome:HGNC:2740 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 P72; RH70 Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011] Expression Ubiquitous expression in spleen (RPKM 144.6), endometrium (RPKM 136.4) and 25 other tissues See more Orthologs mouse all
DDX18, Official Symbol DDX18provided by HGNC Official Full Name DEAD-box helicase 18provided by HGNC Primary source HGNC:HGNC:2741 See related Ensembl:ENSG00000088205 MIM:606355; AllianceGenome:HGNC:2741 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 Has1; MrDb Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 23.5), thyroid (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
DDX18P1, Official Symbol DDX18P1provided by HGNC Official Full Name DEAD-box helicase 18 pseudogene 1provided by HGNC Primary source HGNC:HGNC:20007 See related Ensembl:ENSG00000259165 AllianceGenome:HGNC:20007 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX18P3, Official Symbol DDX18P3provided by HGNC Official Full Name DEAD-box helicase 18 pseudogene 3provided by HGNC Primary source HGNC:HGNC:33966 See related Ensembl:ENSG00000217414 AllianceGenome:HGNC:33966 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX18P4, Official Symbol DDX18P4provided by HGNC Official Full Name DEAD-box helicase 18 pseudogene 4provided by HGNC Primary source HGNC:HGNC:33967 See related AllianceGenome:HGNC:33967 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DDX19A, Official Symbol DDX19Aprovided by HGNC Official Full Name DEAD-box helicase 19Aprovided by HGNC Primary source HGNC:HGNC:25628 See related Ensembl:ENSG00000168872 AllianceGenome:HGNC:25628 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 DDX19L; DDX19-DDX19L Summary Predicted to enable RNA binding activity and RNA helicase activity. Predicted to be involved in poly(A)+ mRNA export from nucleus. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 14.8), placenta (RPKM 14.0) and 25 other tissues See more Orthologs all
DDX19A-DT, Official Symbol DDX19A-DTprovided by HGNC Official Full Name DDX19A divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55349 See related Ensembl:ENSG00000261777 AllianceGenome:HGNC:55349 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 fat (RPKM 4.1), testis (RPKM 4.0) and 25 other tissues See more
DDX19B, Official Symbol DDX19Bprovided by HGNC Official Full Name DEAD-box helicase 19Bprovided by HGNC Primary source HGNC:HGNC:2742 See related Ensembl:ENSG00000157349 MIM:605812; AllianceGenome:HGNC:2742 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 DBP5; RNAh; DDX19 Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 16.5), thyroid (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
DDX20, Official Symbol DDX20provided by HGNC Official Full Name DEAD-box helicase 20provided by HGNC Primary source HGNC:HGNC:2743 See related Ensembl:ENSG00000064703 MIM:606168; AllianceGenome:HGNC:2743 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 DP103; GEMIN3 Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 58.2), bone marrow (RPKM 6.4) and 17 other tissues See more Orthologs mouse all
DDX21, Official Symbol DDX21provided by HGNC Official Full Name DExD-box helicase 21provided by HGNC Primary source HGNC:HGNC:2744 See related Ensembl:ENSG00000165732 MIM:606357; AllianceGenome:HGNC:2744 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 RH; GUA; GURDB; II/Gu; RH II/Gu; RH-II/GU; gu-alpha; RH-II/GuA Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 38.2), appendix (RPKM 33.3) and 25 other tissues See more Orthologs mouse all