psui3905/ncbi_genes_summary huggingface dataset:
CGB1, Official Symbol CGB1provided by HGNC Official Full Name chorionic gonadotropin subunit beta 1provided by HGNC Primary source HGNC:HGNC:16721 See related Ensembl:ENSG00000267631 MIM:608823; AllianceGenome:HGNC:16721 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 beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 22.7) See more
CGB2, Official Symbol CGB2provided by HGNC Official Full Name chorionic gonadotropin subunit beta 2provided by HGNC Primary source HGNC:HGNC:16722 See related Ensembl:ENSG00000104818 MIM:608824; AllianceGenome:HGNC:16722 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 beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 15.8) See more
CGB3, Official Symbol CGB3provided by HGNC Official Full Name chorionic gonadotropin subunit beta 3provided by HGNC Primary source HGNC:HGNC:1886 See related Ensembl:ENSG00000104827 MIM:118860; AllianceGenome:HGNC:1886 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 CGB; LHB; CGB5; CGB7; CGB8; hCGB Summary This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 30.5) See more
CGB5, Official Symbol CGB5provided by HGNC Official Full Name chorionic gonadotropin subunit beta 5provided by HGNC Primary source HGNC:HGNC:16452 See related Ensembl:ENSG00000189052 MIM:608825; AllianceGenome:HGNC:16452 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 CGB; HCG; hCGB Summary This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 5 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 38.2) See more
CGB7, Official Symbol CGB7provided by HGNC Official Full Name chorionic gonadotropin subunit beta 7provided by HGNC Primary source HGNC:HGNC:16451 See related Ensembl:ENSG00000196337 MIM:608826; AllianceGenome:HGNC:16451 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 CGB6; CG-beta-a Summary This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 5.5), skin (RPKM 1.3) and 1 other tissue See more
CGB8, Official Symbol CGB8provided by HGNC Official Full Name chorionic gonadotropin subunit beta 8provided by HGNC Primary source HGNC:HGNC:16453 See related Ensembl:ENSG00000213030 MIM:608827; AllianceGenome:HGNC:16453 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 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 8 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 35.5) See more
CGGBP1, Official Symbol CGGBP1provided by HGNC Official Full Name CGG triplet repeat binding protein 1provided by HGNC Primary source HGNC:HGNC:1888 See related Ensembl:ENSG00000163320 MIM:603363; AllianceGenome:HGNC:1888 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 CGGBP; p20-CGGBP Summary This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in lymph node (RPKM 30.3), thyroid (RPKM 26.5) and 25 other tissues See more Orthologs mouse all
CGN, Official Symbol CGNprovided by HGNC Official Full Name cingulinprovided by HGNC Primary source HGNC:HGNC:17429 See related Ensembl:ENSG00000143375 MIM:609473; AllianceGenome:HGNC:17429 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 cadherin binding activity. Predicted to act upstream of or within bicellular tight junction assembly; epithelial cell morphogenesis; and microtubule cytoskeleton organization. Located in bicellular tight junction and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 30.7), duodenum (RPKM 28.7) and 15 other tissues See more Orthologs mouse all
CGNL1, Official Symbol CGNL1provided by HGNC Official Full Name cingulin like 1provided by HGNC Primary source HGNC:HGNC:25931 See related Ensembl:ENSG00000128849 MIM:607856; AllianceGenome:HGNC:25931 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 JACOP; PCING Summary This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011] Expression Broad expression in kidney (RPKM 42.7), prostate (RPKM 13.0) and 15 other tissues See more Orthologs mouse all
CGREF1, Official Symbol CGREF1provided by HGNC Official Full Name cell growth regulator with EF-hand domain 1provided by HGNC Primary source HGNC:HGNC:16962 See related Ensembl:ENSG00000138028 MIM:606137; AllianceGenome:HGNC:16962 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 CGR11 Summary Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of cell population proliferation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 22.2), small intestine (RPKM 16.6) and 14 other tissues See more Orthologs mouse all
CGRRF1, Official Symbol CGRRF1provided by HGNC Official Full Name cell growth regulator with ring finger domain 1provided by HGNC Primary source HGNC:HGNC:15528 See related Ensembl:ENSG00000100532 MIM:606138; AllianceGenome:HGNC:15528 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 CGR19; RNF197 Summary Predicted to enable metal ion binding activity. Predicted to be involved in negative regulation of cell growth. Located in endoplasmic reticulum and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.6), thyroid (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
CH25H, Official Symbol CH25Hprovided by HGNC Official Full Name cholesterol 25-hydroxylaseprovided by HGNC Primary source HGNC:HGNC:1907 See related Ensembl:ENSG00000138135 MIM:604551; AllianceGenome:HGNC:1907 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 C25H Summary This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008] Orthologs mouse all
CH507-145C22.1, Gene symbol CH507-145C22.1 Gene description uncharacterized CH507-145C22.1 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CH507-154B10.1 Expression Low expression observed in reference dataset See more
CH507-42P11.6, Gene symbol CH507-42P11.6 Gene description uncharacterized CH507-42P11.6 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information Note: GeneID:102724398 is on a scaffold that is thought to be a false duplication and thus this gene is likely redundant with GeneID:284836. [11 Jun 2021] Expression Low expression observed in reference dataset See more Orthologs all
CH507-9B2.8, Gene symbol CH507-9B2.8 Gene description uncharacterized CH507-9B2.8 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information Note: GeneID:105372831 is on a scaffold that is thought to be a false duplication and thus this gene is likely redundant with GeneID:105377139. [10 Jun 2021] Expression Low expression observed in reference dataset See more
CHAC1, Official Symbol CHAC1provided by HGNC Official Full Name ChaC glutathione specific gamma-glutamylcyclotransferase 1provided by HGNC Primary source HGNC:HGNC:28680 See related Ensembl:ENSG00000128965 MIM:614587; AllianceGenome:HGNC:28680 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 This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016] Expression Broad expression in esophagus (RPKM 2.7), pancreas (RPKM 2.0) and 19 other tissues See more Orthologs mouse all
CHAC2, Official Symbol CHAC2provided by HGNC Official Full Name ChaC glutathione specific gamma-glutamylcyclotransferase 2provided by HGNC Primary source HGNC:HGNC:32363 See related Ensembl:ENSG00000143942 MIM:617446; AllianceGenome:HGNC:32363 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 GCG1 Summary The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in duodenum (RPKM 3.6), testis (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
CHAD, Official Symbol CHADprovided by HGNC Official Full Name chondroadherinprovided by HGNC Primary source HGNC:HGNC:1909 See related Ensembl:ENSG00000136457 MIM:602178; AllianceGenome:HGNC:1909 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 SLRR4A Summary Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008] Expression Broad expression in small intestine (RPKM 4.5), liver (RPKM 4.4) and 24 other tissues See more Orthologs mouse all
CHADL, Official Symbol CHADLprovided by HGNC Official Full Name chondroadherin likeprovided by HGNC Primary source HGNC:HGNC:25165 See related Ensembl:ENSG00000100399 MIM:616236; AllianceGenome:HGNC:25165 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 SLRR4B Summary Enables collagen binding activity and collagen fibril binding activity. Involved in negative regulation of collagen fibril organization. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 3.6), prostate (RPKM 1.4) and 25 other tissues See more Orthologs mouse all
CHAF1A, Official Symbol CHAF1Aprovided by HGNC Official Full Name chromatin assembly factor 1 subunit Aprovided by HGNC Primary source HGNC:HGNC:1910 See related Ensembl:ENSG00000167670 MIM:601246; AllianceGenome:HGNC:1910 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 CAF1; P150; CAF-1; CAF1B; CAF1P150 Summary Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008] Expression Broad expression in bone marrow (RPKM 7.4), testis (RPKM 6.1) and 24 other tissues See more Orthologs mouse all
CHAF1B, Official Symbol CHAF1Bprovided by HGNC Official Full Name chromatin assembly factor 1 subunit Bprovided by HGNC Primary source HGNC:HGNC:1911 See related Ensembl:ENSG00000159259 MIM:601245; AllianceGenome:HGNC:1911 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 CAF1; MPP7; CAF-1; CAF1A; CAF1P60; CAF-IP60; MPHOSPH7 Summary Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 2.7), testis (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
CHAMP1, Official Symbol CHAMP1provided by HGNC Official Full Name chromosome alignment maintaining phosphoprotein 1provided by HGNC Primary source HGNC:HGNC:20311 See related Ensembl:ENSG00000198824 MIM:616327; AllianceGenome:HGNC:20311 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 CAMP; CHAMP; MRD40; ZNF828; C13orf8; NEDHILD Summary This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in lymph node (RPKM 8.7), thyroid (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
CHAT, Official Symbol CHATprovided by HGNC Official Full Name choline O-acetyltransferaseprovided by HGNC Primary source HGNC:HGNC:1912 See related Ensembl:ENSG00000070748 MIM:118490; AllianceGenome:HGNC:1912 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 CMS6; CMS1A; CMS1A2; CHOACTASE Summary This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010] Expression Biased expression in placenta (RPKM 2.7), small intestine (RPKM 0.2) and 1 other tissue See more Orthologs mouse all
CHCHD1, Official Symbol CHCHD1provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 1provided by HGNC Primary source HGNC:HGNC:23518 See related Ensembl:ENSG00000172586 MIM:608842; AllianceGenome:HGNC:23518 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 mS37; C2360; MRP-S37; C10orf34 Summary Enables RNA binding activity. Predicted to be involved in mitochondrial translation. Located in cytosol; mitochondrion; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 18.9), colon (RPKM 18.8) and 25 other tissues See more Orthologs mouse all
CHCHD10, Official Symbol CHCHD10provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 10provided by HGNC Primary source HGNC:HGNC:15559 See related Ensembl:ENSG00000250479 MIM:615903; AllianceGenome:HGNC:15559 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 IMMD; SMAJ; MIX17A; FTDALS2; N27C7-4; C22orf16 Summary This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014] Expression Broad expression in heart (RPKM 56.7), colon (RPKM 43.9) and 20 other tissues See more Orthologs mouse all
CHCHD2, Official Symbol CHCHD2provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 2provided by HGNC Primary source HGNC:HGNC:21645 See related Ensembl:ENSG00000106153 MIM:616244; AllianceGenome:HGNC:21645 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 MNRR1; NS2TP; MIX17B; PARK22; C7orf17 Summary The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in adrenal (RPKM 189.5), bone marrow (RPKM 102.0) and 25 other tissues See more Orthologs mouse all
CHCHD2P1, Official Symbol CHCHD2P1provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39585 See related Ensembl:ENSG00000226902 AllianceGenome:HGNC:39585 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHCHD2P11, Official Symbol CHCHD2P11provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 11provided by HGNC Primary source HGNC:HGNC:49029 See related Ensembl:ENSG00000270809 AllianceGenome:HGNC:49029 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHCHD2P2, Official Symbol CHCHD2P2provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39586 See related AllianceGenome:HGNC:39586 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHCHD2P4, Official Symbol CHCHD2P4provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39588 See related AllianceGenome:HGNC:39588 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHCHD2P5, Official Symbol CHCHD2P5provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39589 See related Ensembl:ENSG00000223490 AllianceGenome:HGNC:39589 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHCHD2P6, Official Symbol CHCHD2P6provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6provided by HGNC Primary source HGNC:HGNC:39590 See related AllianceGenome:HGNC:39590 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHCHD3, Official Symbol CHCHD3provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 3provided by HGNC Primary source HGNC:HGNC:21906 See related Ensembl:ENSG00000106554 MIM:613748; AllianceGenome:HGNC:21906 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 Mic19; MINOS3; MICOS19; PPP1R22 Summary The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in heart (RPKM 24.9), duodenum (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
CHCHD4, Official Symbol CHCHD4provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 4provided by HGNC Primary source HGNC:HGNC:26467 See related Ensembl:ENSG00000163528 MIM:611077; AllianceGenome:HGNC:26467 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 MIA40; TIMM40 Summary CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in kidney (RPKM 8.0), duodenum (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
CHCHD4P3, Official Symbol CHCHD4P3provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 3provided by HGNC Primary source HGNC:HGNC:44491 See related AllianceGenome:HGNC:44491 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHCHD4P5, Official Symbol CHCHD4P5provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 5provided by HGNC Primary source HGNC:HGNC:44493 See related Ensembl:ENSG00000225222 AllianceGenome:HGNC:44493 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CHCHD5, Official Symbol CHCHD5provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 5provided by HGNC Primary source HGNC:HGNC:17840 See related Ensembl:ENSG00000125611 MIM:616978; AllianceGenome:HGNC:17840 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 CHTM1; MIC14; MIX14; C2orf9 Summary Predicted to be located in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.7), kidney (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
CHCHD6, Official Symbol CHCHD6provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 6provided by HGNC Primary source HGNC:HGNC:28184 See related Ensembl:ENSG00000159685 MIM:615634; AllianceGenome:HGNC:28184 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 CHCM1; Mic25; MICOS25; PPP1R23 Summary Involved in cellular response to DNA damage stimulus and cristae formation. Located in cytosol and mitochondrial inner membrane. Part of MICOS complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.6), brain (RPKM 0.9) and 25 other tissues See more Orthologs mouse all
CHCHD7, Official Symbol CHCHD7provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 7provided by HGNC Primary source HGNC:HGNC:28314 See related Ensembl:ENSG00000170791 MIM:611238; AllianceGenome:HGNC:28314 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 COX23 Summary Predicted to be located in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 12.4), kidney (RPKM 11.5) and 25 other tissues See more Orthologs mouse all
CHD1, Official Symbol CHD1provided by HGNC Official Full Name chromodomain helicase DNA binding protein 1provided by HGNC Primary source HGNC:HGNC:1915 See related Ensembl:ENSG00000153922 MIM:602118; AllianceGenome:HGNC:1915 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 CHD-1; PILBOS Summary The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 30.4), appendix (RPKM 9.5) and 23 other tissues See more Orthologs mouse all
CHD1L, Official Symbol CHD1Lprovided by HGNC Official Full Name chromodomain helicase DNA binding protein 1 likeprovided by HGNC Primary source HGNC:HGNC:1916 See related Ensembl:ENSG00000131778 MIM:613039; AllianceGenome:HGNC:1916 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 ALC1; CHDL Summary This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 13.4), bone marrow (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
CHD2, Official Symbol CHD2provided by HGNC Official Full Name chromodomain helicase DNA binding protein 2provided by HGNC Primary source HGNC:HGNC:1917 See related Ensembl:ENSG00000173575 MIM:602119; AllianceGenome:HGNC:1917 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 EEOC; DEE94 Summary The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 26.2), thyroid (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
CHD3, Official Symbol CHD3provided by HGNC Official Full Name chromodomain helicase DNA binding protein 3provided by HGNC Primary source HGNC:HGNC:1918 See related Ensembl:ENSG00000170004 MIM:602120; AllianceGenome:HGNC:1918 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 ZFH; Mi-2a; SNIBCPS; Mi2-ALPHA Summary This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 26.5), brain (RPKM 24.4) and 24 other tissues See more Orthologs mouse all
CHD4, Official Symbol CHD4provided by HGNC Official Full Name chromodomain helicase DNA binding protein 4provided by HGNC Primary source HGNC:HGNC:1919 See related Ensembl:ENSG00000111642 MIM:603277; AllianceGenome:HGNC:1919 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 CHD-4; Mi-2b; SIHIWES; Mi2-BETA Summary The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in thyroid (RPKM 37.2), endometrium (RPKM 27.5) and 25 other tissues See more Orthologs mouse all
CHD5, Official Symbol CHD5provided by HGNC Official Full Name chromodomain helicase DNA binding protein 5provided by HGNC Primary source HGNC:HGNC:16816 See related Ensembl:ENSG00000116254 MIM:610771; AllianceGenome:HGNC:16816 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 CHD-5; PMNDS Summary This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012] Expression Biased expression in brain (RPKM 14.5), testis (RPKM 9.9) and 1 other tissue See more Orthologs mouse all
CHD6, Official Symbol CHD6provided by HGNC Official Full Name chromodomain helicase DNA binding protein 6provided by HGNC Primary source HGNC:HGNC:19057 See related Ensembl:ENSG00000124177 MIM:616114; AllianceGenome:HGNC:19057 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 CHD5; RIGB; CHD-6 Summary This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in ovary (RPKM 7.0), thyroid (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
CHD7, Official Symbol CHD7provided by HGNC Official Full Name chromodomain helicase DNA binding protein 7provided by HGNC Primary source HGNC:HGNC:20626 See related Ensembl:ENSG00000171316 MIM:608892; AllianceGenome:HGNC:20626 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 CRG; HH5; IS3; KAL5 Summary This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in bone marrow (RPKM 6.4), brain (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
CHD8, Official Symbol CHD8provided by HGNC Official Full Name chromodomain helicase DNA binding protein 8provided by HGNC Primary source HGNC:HGNC:20153 See related Ensembl:ENSG00000100888 MIM:610528; AllianceGenome:HGNC:20153 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 IDDAM; AUTS18; HELSNF1 Summary This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
CHD9, Official Symbol CHD9provided by HGNC Official Full Name chromodomain helicase DNA binding protein 9provided by HGNC Primary source HGNC:HGNC:25701 See related Ensembl:ENSG00000177200 MIM:616936; AllianceGenome:HGNC:25701 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 AD013; CHD-9; CReMM; KISH2; PRIC320 Summary Predicted to enable ATP binding activity; ATP-dependent activity, acting on DNA; and DNA binding activity. Predicted to be involved in DNA duplex unwinding and chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 7.0), ovary (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
CHDH, Official Symbol CHDHprovided by HGNC Official Full Name choline dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:24288 See related Ensembl:ENSG00000016391 AllianceGenome:HGNC:24288 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 choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010] Expression Broad expression in kidney (RPKM 17.5), liver (RPKM 4.8) and 14 other tissues See more Orthologs mouse all
CHEK1, Official Symbol CHEK1provided by HGNC Official Full Name checkpoint kinase 1provided by HGNC Primary source HGNC:HGNC:1925 See related Ensembl:ENSG00000149554 MIM:603078; AllianceGenome:HGNC:1925 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 CHK1 Summary The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in bone marrow (RPKM 4.6), lymph node (RPKM 3.5) and 23 other tissues See more Orthologs mouse all