psui3905/ncbi_genes_summary huggingface dataset:
CACNG6, Official Symbol CACNG6provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit gamma 6provided by HGNC Primary source HGNC:HGNC:13625 See related Ensembl:ENSG00000130433 MIM:606898; AllianceGenome:HGNC:13625 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 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
CACNG7, Official Symbol CACNG7provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit gamma 7provided by HGNC Primary source HGNC:HGNC:13626 See related Ensembl:ENSG00000105605 MIM:606899; AllianceGenome:HGNC:13626 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] Expression Restricted expression toward brain (RPKM 18.0) See more Orthologs mouse all
CACNG8, Official Symbol CACNG8provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit gamma 8provided by HGNC Primary source HGNC:HGNC:13628 See related Ensembl:ENSG00000142408 MIM:606900; AllianceGenome:HGNC:13628 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010] Expression Restricted expression toward brain (RPKM 9.1) See more Orthologs mouse all
CACTIN, Official Symbol CACTINprovided by HGNC Official Full Name cactin, spliceosome C complex subunitprovided by HGNC Primary source HGNC:HGNC:29938 See related Ensembl:ENSG00000105298 MIM:618536; AllianceGenome:HGNC:29938 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 fSAPc; C19orf29; NY-REN-24 Summary Enables RNA binding activity. Involved in several processes, including cellular response to cytokine stimulus; negative regulation of cytokine production; and negative regulation of signal transduction. Located in cytosol and nuclear speck. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 5.5), testis (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
CACTIN-AS1, Official Symbol CACTIN-AS1provided by HGNC Official Full Name CACTIN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:31391 See related Ensembl:ENSG00000226800 AllianceGenome:HGNC:31391 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 C19orf29OS; C19orf29-AS1 Expression Ubiquitous expression in spleen (RPKM 5.4), testis (RPKM 4.3) and 25 other tissues See more
CACUL1, Official Symbol CACUL1provided by HGNC Official Full Name CDK2 associated cullin domain 1provided by HGNC Primary source HGNC:HGNC:23727 See related Ensembl:ENSG00000151893 MIM:618764; AllianceGenome:HGNC:23727 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 CAC1; C10orf46 Summary Enables protein kinase binding activity. Involved in G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protein kinase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.0), bone marrow (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
CACYBP, Official Symbol CACYBPprovided by HGNC Official Full Name calcyclin binding proteinprovided by HGNC Primary source HGNC:HGNC:30423 See related Ensembl:ENSG00000116161 MIM:606186; AllianceGenome:HGNC:30423 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 SIP; GIG5; PNAS-107; S100A6BP Summary The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 20.4), ovary (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
CACYBPP3, Official Symbol CACYBPP3provided by HGNC Official Full Name calcyclin binding protein pseudogene 3provided by HGNC Primary source HGNC:HGNC:45124 See related Ensembl:ENSG00000219188 AllianceGenome:HGNC:45124 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CAD, Official Symbol CADprovided by HGNC Official Full Name carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotaseprovided by HGNC Primary source HGNC:HGNC:1424 See related Ensembl:ENSG00000084774 MIM:114010; AllianceGenome:HGNC:1424 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 CDG1Z; DEE50; GATD4; EIEE50 Summary The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in testis (RPKM 7.3), ovary (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
CADM1, Official Symbol CADM1provided by HGNC Official Full Name cell adhesion molecule 1provided by HGNC Primary source HGNC:HGNC:5951 See related Ensembl:ENSG00000182985 MIM:605686; AllianceGenome:HGNC:5951 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 BL2; ST17; IGSF4; NECL2; RA175; TSLC1; IGSF4A; Necl-2; SYNCAM; sgIGSF; sTSLC-1; synCAM1 Summary Enables signaling receptor binding activity. Involved in several processes, including cell recognition; positive regulation of cytokine production; and susceptibility to natural killer cell mediated cytotoxicity. Located in plasma membrane. Implicated in breast carcinoma and prostate cancer. Biomarker of cervix uteri carcinoma in situ. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 23.7), thyroid (RPKM 19.5) and 23 other tissues See more Orthologs mouse all
CADM2, Official Symbol CADM2provided by HGNC Official Full Name cell adhesion molecule 2provided by HGNC Primary source HGNC:HGNC:29849 See related Ensembl:ENSG00000175161 MIM:609938; AllianceGenome:HGNC:29849 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 NECL3; IGSF4D; Necl-3; synCAM2; SynCAM 2; SynCAM-2 Summary This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Expression Biased expression in brain (RPKM 29.4), fat (RPKM 2.4) and 1 other tissue See more Orthologs mouse all
CADM2-AS2, Official Symbol CADM2-AS2provided by HGNC Official Full Name CADM2 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:41247 See related Ensembl:ENSG00000241648 AllianceGenome:HGNC:41247 Gene type ncRNA RefSeq status PREDICTED 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
CADM3, Official Symbol CADM3provided by HGNC Official Full Name cell adhesion molecule 3provided by HGNC Primary source HGNC:HGNC:17601 See related Ensembl:ENSG00000162706 MIM:609743; AllianceGenome:HGNC:17601 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 BIgR; NECL1; TSLL1; CMT2FF; IGSF4B; Necl-1; synCAM3 Summary The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016] Expression Biased expression in brain (RPKM 106.6), placenta (RPKM 39.2) and 4 other tissues See more Orthologs mouse all
CADM3-AS1, Official Symbol CADM3-AS1provided by HGNC Official Full Name CADM3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40812 See related AllianceGenome:HGNC:40812 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 brain (RPKM 50.0), placenta (RPKM 18.8) and 9 other tissues See more
CADM4, Official Symbol CADM4provided by HGNC Official Full Name cell adhesion molecule 4provided by HGNC Primary source HGNC:HGNC:30825 See related Ensembl:ENSG00000105767 MIM:609744; AllianceGenome:HGNC:30825 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 NECL4; TSLL2; IGSF4C; Necl-4; synCAM4 Summary Enables vascular endothelial growth factor receptor 2 binding activity. Involved in several processes, including negative regulation of protein phosphorylation; regulation of Rac protein signal transduction; and regulation of wound healing. Located in cell leading edge and cell-cell contact zone. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 59.7), kidney (RPKM 14.7) and 8 other tissues See more Orthologs mouse all
CADPS, Official Symbol CADPSprovided by HGNC Official Full Name calcium dependent secretion activatorprovided by HGNC Primary source HGNC:HGNC:1426 See related Ensembl:ENSG00000163618 MIM:604667; AllianceGenome:HGNC:1426 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 CAPS; CAPS1; CADPS1; UNC-31 Summary This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008] Expression Biased expression in brain (RPKM 14.7), adrenal (RPKM 5.4) and 9 other tissues See more Orthologs mouse all
CADPS2, Official Symbol CADPS2provided by HGNC Official Full Name calcium dependent secretion activator 2provided by HGNC Primary source HGNC:HGNC:16018 See related Ensembl:ENSG00000081803 MIM:609978; AllianceGenome:HGNC:16018 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 CAPS2 Summary This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in kidney (RPKM 9.9), brain (RPKM 7.6) and 23 other tissues See more Orthologs mouse all
CAGE1, Official Symbol CAGE1provided by HGNC Official Full Name cancer antigen 1provided by HGNC Primary source HGNC:HGNC:21622 See related Ensembl:ENSG00000164304 MIM:608304; AllianceGenome:HGNC:21622 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 CT3; CT95; CTAG3; bA69L16.7 Expression Restricted expression toward testis (RPKM 5.0) See more Orthologs mouse all
CAHM, Official Symbol CAHMprovided by HGNC Official Full Name colon adenocarcinoma hypermethylatedprovided by HGNC Primary source HGNC:HGNC:42860 See related Ensembl:ENSG00000270419 MIM:615930; AllianceGenome:HGNC:42860 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 LINC00468 Orthologs mouse all
CALB1, Official Symbol CALB1provided by HGNC Official Full Name calbindin 1provided by HGNC Primary source HGNC:HGNC:1434 See related Ensembl:ENSG00000104327 MIM:114050; AllianceGenome:HGNC:1434 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 CALB; D-28K Summary The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015] Expression Restricted expression toward kidney (RPKM 156.4) See more Orthologs mouse all
CALB2, Official Symbol CALB2provided by HGNC Official Full Name calbindin 2provided by HGNC Primary source HGNC:HGNC:1435 See related Ensembl:ENSG00000172137 MIM:114051; AllianceGenome:HGNC:1435 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 CR; CAL2; CAB29 Summary This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] Expression Biased expression in fat (RPKM 72.8), testis (RPKM 20.4) and 4 other tissues See more Orthologs mouse all
CALCA, Official Symbol CALCAprovided by HGNC Official Full Name calcitonin related polypeptide alphaprovided by HGNC Primary source HGNC:HGNC:1437 See related Ensembl:ENSG00000110680 MIM:114130; AllianceGenome:HGNC:1437 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 CT; KC; PCT; CGRP; CALC1; CGRP1; CGRP-I; CGRP-alpha Summary This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014] Expression Restricted expression toward thyroid (RPKM 13.7) See more Orthologs mouse all
CALCB, Official Symbol CALCBprovided by HGNC Official Full Name calcitonin related polypeptide betaprovided by HGNC Primary source HGNC:HGNC:1438 See related Ensembl:ENSG00000175868 MIM:114160; AllianceGenome:HGNC:1438 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 CALC2; CGRP2; CGRP-II Summary Predicted to enable calcitonin receptor binding activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway and regulation of cytosolic calcium ion concentration. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward thyroid (RPKM 12.3) See more Orthologs all
CALCOCO1, Official Symbol CALCOCO1provided by HGNC Official Full Name calcium binding and coiled-coil domain 1provided by HGNC Primary source HGNC:HGNC:29306 See related Ensembl:ENSG00000012822 AllianceGenome:HGNC:29306 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 Cocoa; PP13275; calphoglin Summary Enables several functions, including armadillo repeat domain binding activity; beta-catenin binding activity; and nuclear receptor coactivator activity. Involved in positive regulation of gene expression and positive regulation of transcription, DNA-templated. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 52.1), lung (RPKM 44.3) and 25 other tissues See more Orthologs mouse all
CALCOCO2, Official Symbol CALCOCO2provided by HGNC Official Full Name calcium binding and coiled-coil domain 2provided by HGNC Primary source HGNC:HGNC:29912 See related Ensembl:ENSG00000136436 MIM:604587; AllianceGenome:HGNC:29912 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 NDP52 Summary This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in fat (RPKM 39.0), testis (RPKM 32.6) and 25 other tissues See more Orthologs mouse all
CALCP, Official Symbol CALCPprovided by HGNC Official Full Name calcitonin pseudogeneprovided by HGNC Primary source HGNC:HGNC:1439 See related Ensembl:ENSG00000253179 AllianceGenome:HGNC:1439 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 CALC3
CALCR, Official Symbol CALCRprovided by HGNC Official Full Name calcitonin receptorprovided by HGNC Primary source HGNC:HGNC:1440 See related Ensembl:ENSG00000004948 MIM:114131; AllianceGenome:HGNC:1440 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 CRT; CTR; CT-R; CTR1 Summary This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
CALCRL, Official Symbol CALCRLprovided by HGNC Official Full Name calcitonin receptor like receptorprovided by HGNC Primary source HGNC:HGNC:16709 See related Ensembl:ENSG00000064989 MIM:114190; AllianceGenome:HGNC:16709 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 CRLR; CGRPR; LMPHM8 Summary Enables adrenomedullin binding activity; adrenomedullin receptor activity; and calcitonin gene-related peptide receptor activity. Involved in several processes, including G protein-coupled receptor signaling pathway; cellular response to sucrose stimulus; and receptor internalization. Located in endoplasmic reticulum; endosome; and lysosome. Part of CGRP receptor complex and adrenomedullin receptor complex. Colocalizes with plasma membrane. Implicated in hereditary lymphedema. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 41.7), fat (RPKM 35.2) and 20 other tissues See more Orthologs mouse all
CALD1, Official Symbol CALD1provided by HGNC Official Full Name caldesmon 1provided by HGNC Primary source HGNC:HGNC:1441 See related Ensembl:ENSG00000122786 MIM:114213; AllianceGenome:HGNC:1441 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 CDM; HCAD; LCAD; h-CD; H-CAD; L-CAD; NAG22 Summary This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 170.6), prostate (RPKM 164.0) and 23 other tissues See more Orthologs mouse all
CALHM1, Official Symbol CALHM1provided by HGNC Official Full Name calcium homeostasis modulator 1provided by HGNC Primary source HGNC:HGNC:23494 See related Ensembl:ENSG00000185933 MIM:612234; AllianceGenome:HGNC:23494 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 FAM26C Summary This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010] Expression Low expression observed in reference dataset See more Orthologs all
CALHM2, Official Symbol CALHM2provided by HGNC Official Full Name calcium homeostasis modulator family member 2provided by HGNC Primary source HGNC:HGNC:23493 See related Ensembl:ENSG00000138172 MIM:612235; AllianceGenome:HGNC:23493 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 FAM26B Summary Predicted to enable cation channel activity. Involved in positive regulation of apoptotic process. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 19.8), endometrium (RPKM 13.4) and 22 other tissues See more Orthologs mouse all
CALHM3, Official Symbol CALHM3provided by HGNC Official Full Name calcium homeostasis modulator 3provided by HGNC Primary source HGNC:HGNC:23458 See related Ensembl:ENSG00000183128 MIM:618263; AllianceGenome:HGNC:23458 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 FAM26A; bA225H22.7 Summary Predicted to enable cation channel activity. Predicted to be involved in ATP transport. Predicted to be located in basolateral plasma membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
CALHM4, Official Symbol CALHM4provided by HGNC Official Full Name calcium homeostasis modulator family member 4provided by HGNC Primary source HGNC:HGNC:21094 See related Ensembl:ENSG00000164451 AllianceGenome:HGNC:21094 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 FAM26D; C6orf78 Summary Predicted to enable cation channel activity. Predicted to be involved in cation transmembrane transport. Predicted to be integral component of membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward placenta (RPKM 4.4) See more Orthologs mouse all
CALHM5, Official Symbol CALHM5provided by HGNC Official Full Name calcium homeostasis modulator family member 5provided by HGNC Primary source HGNC:HGNC:21568 See related Ensembl:ENSG00000178033 AllianceGenome:HGNC:21568 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 FAM26E; C6orf188; dJ493F7.3 Summary Predicted to enable cation channel activity. Predicted to be involved in cation transmembrane transport. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 2.8), fat (RPKM 2.2) and 21 other tissues See more Orthologs mouse all
CALHM6, Official Symbol CALHM6provided by HGNC Official Full Name calcium homeostasis modulator family member 6provided by HGNC Primary source HGNC:HGNC:33391 See related Ensembl:ENSG00000188820 MIM:617305; AllianceGenome:HGNC:33391 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 INAM; FAM26F; C6orf187; dJ93H18.5 Summary Predicted to enable cation channel activity. Predicted to be involved in cation transmembrane transport. Predicted to be integral component of membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in spleen (RPKM 28.1), appendix (RPKM 12.4) and 12 other tissues See more Orthologs mouse all
CALM1, Official Symbol CALM1provided by HGNC Official Full Name calmodulin 1provided by HGNC Primary source HGNC:HGNC:1442 See related Ensembl:ENSG00000198668 MIM:114180; AllianceGenome:HGNC:1442 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 caM; CAM2; CAM3; CAMB; CAMC; CAMI; PHKD; CPVT4; DD132; LQT14; PHKD1; CALML2; CAMIII Summary This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020] Expression Ubiquitous expression in brain (RPKM 439.8), esophagus (RPKM 93.6) and 24 other tissues See more Orthologs mouse all
CALM1P1, Official Symbol CALM1P1provided by HGNC Official Full Name calmodulin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:1443 See related Ensembl:ENSG00000223467 AllianceGenome:HGNC:1443 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 CALML1
CALM1P2, Official Symbol CALM1P2provided by HGNC Official Full Name calmodulin 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:1444 See related AllianceGenome:HGNC:1444 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CALM2, Official Symbol CALM2provided by HGNC Official Full Name calmodulin 2provided by HGNC Primary source HGNC:HGNC:1445 See related Ensembl:ENSG00000143933 MIM:114182; AllianceGenome:HGNC:1445 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 caM; CALM; CAM1; CAM3; CAMC; PHKD; CAMII; LQT15; PHKD2; CALML2; CAMIII Summary This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015] Expression Ubiquitous expression in brain (RPKM 152.2), testis (RPKM 98.3) and 24 other tissues See more Orthologs mouse all
CALM2P3, Official Symbol CALM2P3provided by HGNC Official Full Name calmodulin 2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:1448 See related AllianceGenome:HGNC:1448 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CALM2P4, Official Symbol CALM2P4provided by HGNC Official Full Name calmodulin 2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39661 See related Ensembl:ENSG00000233662 AllianceGenome:HGNC:39661 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CALM3, Official Symbol CALM3provided by HGNC Official Full Name calmodulin 3provided by HGNC Primary source HGNC:HGNC:1449 See related Ensembl:ENSG00000160014 MIM:114183; AllianceGenome:HGNC:1449 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 CaM; CALM; CAM1; CAM2; CAMB; PHKD; CPVT6; LQT16; PHKD3; CaMIII; HEL-S-72 Summary This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016] Expression Ubiquitous expression in brain (RPKM 470.4), testis (RPKM 108.1) and 23 other tissues See more Orthologs mouse all
CALML3, Official Symbol CALML3provided by HGNC Official Full Name calmodulin like 3provided by HGNC Primary source HGNC:HGNC:1452 See related Ensembl:ENSG00000178363 MIM:114184; AllianceGenome:HGNC:1452 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 CLP Summary Predicted to enable calcium ion binding activity and enzyme regulator activity. Predicted to be involved in regulation of catalytic activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
CALML4, Official Symbol CALML4provided by HGNC Official Full Name calmodulin like 4provided by HGNC Primary source HGNC:HGNC:18445 See related Ensembl:ENSG00000129007 AllianceGenome:HGNC:18445 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 NY-BR-20 Summary Predicted to enable calcium ion binding activity and enzyme regulator activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 15.5), duodenum (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
CALML5, Official Symbol CALML5provided by HGNC Official Full Name calmodulin like 5provided by HGNC Primary source HGNC:HGNC:18180 See related Ensembl:ENSG00000178372 MIM:605183; AllianceGenome:HGNC:18180 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 CLSP Summary This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008] Orthologs all
CALML6, Official Symbol CALML6provided by HGNC Official Full Name calmodulin like 6provided by HGNC Primary source HGNC:HGNC:24193 See related Ensembl:ENSG00000169885 MIM:610171; AllianceGenome:HGNC:24193 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 CAGLP Summary Predicted to enable calcium ion binding activity and enzyme regulator activity. Predicted to be involved in regulation of catalytic activity. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
CALN1, Official Symbol CALN1provided by HGNC Official Full Name calneuron 1provided by HGNC Primary source HGNC:HGNC:13248 See related Ensembl:ENSG00000183166 MIM:607176; AllianceGenome:HGNC:13248 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 CABP8 Summary This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 8.4), adrenal (RPKM 3.0) and 1 other tissue See more Orthologs mouse all
CALR, Official Symbol CALRprovided by HGNC Official Full Name calreticulinprovided by HGNC Primary source HGNC:HGNC:1455 See related Ensembl:ENSG00000179218 MIM:109091; AllianceGenome:HGNC:1455 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 RO; CRT; SSA; CALR1; cC1qR; HEL-S-99n Summary Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.[provided by RefSeq, May 2020] Expression Ubiquitous expression in thyroid (RPKM 564.2), placenta (RPKM 291.4) and 24 other tissues See more Orthologs mouse all
CALR3, Official Symbol CALR3provided by HGNC Official Full Name calreticulin 3provided by HGNC Primary source HGNC:HGNC:20407 See related Ensembl:ENSG00000269058 MIM:611414; AllianceGenome:HGNC:20407 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 CRT2; CT93; CMH19 Summary The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011] Expression Restricted expression toward testis (RPKM 33.9) See more Orthologs mouse all
CALU, Official Symbol CALUprovided by HGNC Official Full Name calumeninprovided by HGNC Primary source HGNC:HGNC:1458 See related Ensembl:ENSG00000128595 MIM:603420; AllianceGenome:HGNC:1458 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in heart (RPKM 44.6), placenta (RPKM 44.1) and 25 other tissues See more Orthologs mouse all
CALY, Official Symbol CALYprovided by HGNC Official Full Name calcyon neuron specific vesicular proteinprovided by HGNC Primary source HGNC:HGNC:17938 See related Ensembl:ENSG00000130643 MIM:604647; AllianceGenome:HGNC:17938 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 NSG3; DRD1IP Summary The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 10.6), adrenal (RPKM 3.4) and 1 other tissue See more Orthologs mouse all
CAMK1, Official Symbol CAMK1provided by HGNC Official Full Name calcium/calmodulin dependent protein kinase Iprovided by HGNC Primary source HGNC:HGNC:1459 See related Ensembl:ENSG00000134072 MIM:604998; AllianceGenome:HGNC:1459 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 CAMKI Summary Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 42.3), fat (RPKM 25.3) and 22 other tissues See more Orthologs mouse all
CAMK1D, Official Symbol CAMK1Dprovided by HGNC Official Full Name calcium/calmodulin dependent protein kinase IDprovided by HGNC Primary source HGNC:HGNC:19341 See related Ensembl:ENSG00000183049 MIM:607957; AllianceGenome:HGNC:19341 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 CKLiK; CaM-K1; CaMKID Summary This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015] Expression Broad expression in brain (RPKM 10.9), skin (RPKM 4.6) and 21 other tissues See more Orthologs mouse all