psui3905/ncbi_genes_summary huggingface dataset:
KANSL2, Official Symbol KANSL2provided by HGNC Official Full Name KAT8 regulatory NSL complex subunit 2provided by HGNC Primary source HGNC:HGNC:26024 See related Ensembl:ENSG00000139620 MIM:615488; AllianceGenome:HGNC:26024 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 NSL2; C12orf41 Summary Involved in histone H4-K16 acetylation; histone H4-K5 acetylation; and histone H4-K8 acetylation. Located in several cellular components, including actin cytoskeleton; cytosol; and nucleoplasm. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 25.9), testis (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
KANSL3, Official Symbol KANSL3provided by HGNC Official Full Name KAT8 regulatory NSL complex subunit 3provided by HGNC Primary source HGNC:HGNC:25473 See related Ensembl:ENSG00000114982 MIM:617742; AllianceGenome:HGNC:25473 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 NSL3; Rcd1; KIAA1310 Summary Involved in histone H4-K16 acetylation; histone H4-K5 acetylation; and histone H4-K8 acetylation. Located in nucleoplasm. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 20.0), ovary (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
KANTR, Official Symbol KANTRprovided by HGNC Official Full Name KANTR integral membrane proteinprovided by HGNC Primary source HGNC:HGNC:49510 See related Ensembl:ENSG00000232593 MIM:301019; AllianceGenome:HGNC:49510 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 Spasm; LINC01155 Summary This gene is thought to produce a functional long non-coding RNA. Mutation of this locus in mouse causes tremors and spastic movements, suggesting a role for this gene in neurological development or function. [provided by RefSeq, Feb 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
KARS1, Official Symbol KARS1provided by HGNC Official Full Name lysyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:6215 See related Ensembl:ENSG00000065427 MIM:601421; AllianceGenome:HGNC:6215 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 KRS; KARS; KARS2; LEPID; CMTRIB; DEAPLE; DFNB89 Summary Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 57.5), lymph node (RPKM 40.9) and 25 other tissues See more Orthologs mouse all
KARS1P1, Official Symbol KARS1P1provided by HGNC Official Full Name lysyl-tRNA synthetase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39207 See related Ensembl:ENSG00000229696 AllianceGenome:HGNC:39207 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 KARSP1
KARS1P2, Official Symbol KARS1P2provided by HGNC Official Full Name lysyl-tRNA synthetase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39208 See related Ensembl:ENSG00000230371 AllianceGenome:HGNC:39208 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 KARSP2
KASH5, Official Symbol KASH5provided by HGNC Official Full Name KASH domain containing 5provided by HGNC Primary source HGNC:HGNC:26520 See related Ensembl:ENSG00000161609 MIM:618125; AllianceGenome:HGNC:26520 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 CCDC155 Summary Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cytoskeleton organization; homologous chromosome segregation; and spindle localization. Predicted to act upstream of or within double-strand break repair via homologous recombination; oogenesis; and spermatogenesis. Predicted to be integral component of membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in chromosome; meiotic spindle pole; and nuclear outer membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 13.2) See more Orthologs mouse all
KAT14, Official Symbol KAT14provided by HGNC Official Full Name lysine acetyltransferase 14provided by HGNC Primary source HGNC:HGNC:15904 See related Ensembl:ENSG00000149474 MIM:617501; AllianceGenome:HGNC:15904 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 ATAC2; CRP2BP; CSRP2BP; PRO1194; dJ717M23.1 Summary CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in brain (RPKM 8.7), testis (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
KAT2A, Official Symbol KAT2Aprovided by HGNC Official Full Name lysine acetyltransferase 2Aprovided by HGNC Primary source HGNC:HGNC:4201 See related Ensembl:ENSG00000108773 MIM:602301; AllianceGenome:HGNC:4201 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 GCN5; hGCN5; GCN5L2; PCAF-b Summary KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009] Expression Ubiquitous expression in ovary (RPKM 41.6), adrenal (RPKM 30.6) and 25 other tissues See more Orthologs mouse all
KAT2B, Official Symbol KAT2Bprovided by HGNC Official Full Name lysine acetyltransferase 2Bprovided by HGNC Primary source HGNC:HGNC:8638 See related Ensembl:ENSG00000114166 MIM:602303; AllianceGenome:HGNC:8638 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 CAF; PCAF; P/CAF Summary CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 17.7), bone marrow (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
KAT5, Official Symbol KAT5provided by HGNC Official Full Name lysine acetyltransferase 5provided by HGNC Primary source HGNC:HGNC:5275 See related Ensembl:ENSG00000172977 MIM:601409; AllianceGenome:HGNC:5275 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 TIP; ESA1; PLIP; TIP60; cPLA2; HTATIP; ZC2HC5; HTATIP1; NEDFASB Summary The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 21.5), thyroid (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
KAT6A, Official Symbol KAT6Aprovided by HGNC Official Full Name lysine acetyltransferase 6Aprovided by HGNC Primary source HGNC:HGNC:13013 See related Ensembl:ENSG00000083168 MIM:601408; AllianceGenome:HGNC:13013 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 MOZ; ARTHS; MRD32; MYST3; MYST-3; ZNF220; RUNXBP2; ZC2HC6A Summary This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in bone marrow (RPKM 10.9), ovary (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
KAT6B, Official Symbol KAT6Bprovided by HGNC Official Full Name lysine acetyltransferase 6Bprovided by HGNC Primary source HGNC:HGNC:17582 See related Ensembl:ENSG00000156650 MIM:605880; AllianceGenome:HGNC:17582 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 qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf Summary The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in ovary (RPKM 9.9), testis (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
KAT7, Official Symbol KAT7provided by HGNC Official Full Name lysine acetyltransferase 7provided by HGNC Primary source HGNC:HGNC:17016 See related Ensembl:ENSG00000136504 MIM:609880; AllianceGenome:HGNC:17016 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 HBO1; HBOA; MYST2; ZC2HC7 Summary The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016] Expression Broad expression in testis (RPKM 37.1), bone marrow (RPKM 22.8) and 24 other tissues See more Orthologs mouse all
KAT7P1, Official Symbol KAT7P1provided by HGNC Official Full Name KAT7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55026 See related Ensembl:ENSG00000232842 AllianceGenome:HGNC:55026 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KAT8, Official Symbol KAT8provided by HGNC Official Full Name lysine acetyltransferase 8provided by HGNC Primary source HGNC:HGNC:17933 See related Ensembl:ENSG00000103510 MIM:609912; AllianceGenome:HGNC:17933 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 MOF; hMOF; MYST1; LIGOWS; ZC2HC8 Summary This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in ovary (RPKM 17.1), testis (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
KATNA1, Official Symbol KATNA1provided by HGNC Official Full Name katanin catalytic subunit A1provided by HGNC Primary source HGNC:HGNC:6216 See related Ensembl:ENSG00000186625 MIM:606696; AllianceGenome:HGNC:6216 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 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011] Expression Broad expression in testis (RPKM 18.8), ovary (RPKM 7.2) and 24 other tissues See more Orthologs mouse all
KATNAL1, Official Symbol KATNAL1provided by HGNC Official Full Name katanin catalytic subunit A1 like 1provided by HGNC Primary source HGNC:HGNC:28361 See related Ensembl:ENSG00000102781 MIM:614764; AllianceGenome:HGNC:28361 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 identical protein binding activity and microtubule-severing ATPase activity. Involved in microtubule severing. Located in cytoplasm; microtubule; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.9), brain (RPKM 4.4) and 24 other tissues See more Orthologs mouse all
KATNAL2, Official Symbol KATNAL2provided by HGNC Official Full Name katanin catalytic subunit A1 like 2provided by HGNC Primary source HGNC:HGNC:25387 See related Ensembl:ENSG00000167216 MIM:614697; AllianceGenome:HGNC:25387 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable microtubule-severing ATPase activity. Predicted to be involved in cytoplasmic microtubule organization. Located in cytoplasm; microtubule; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.3), thyroid (RPKM 1.9) and 23 other tissues See more Orthologs mouse all
KATNB1, Official Symbol KATNB1provided by HGNC Official Full Name katanin regulatory subunit B1provided by HGNC Primary source HGNC:HGNC:6217 See related Ensembl:ENSG00000140854 MIM:602703; AllianceGenome:HGNC:6217 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 KAT; LIS6 Summary Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 14.6), brain (RPKM 7.5) and 24 other tissues See more Orthologs mouse all
KATNBL1, Official Symbol KATNBL1provided by HGNC Official Full Name katanin regulatory subunit B1 like 1provided by HGNC Primary source HGNC:HGNC:26199 See related Ensembl:ENSG00000134152 MIM:616235; AllianceGenome:HGNC:26199 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 C15orf29 Summary Predicted to enable microtubule binding activity. Involved in positive regulation of cytoskeleton organization. Located in several cellular components, including cleavage furrow; mitotic spindle pole; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 6.9), esophagus (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
KATNBL1P1, Official Symbol KATNBL1P1provided by HGNC Official Full Name katanin regulatory subunit B1 like 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39724 See related Ensembl:ENSG00000271026 AllianceGenome:HGNC:39724 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KATNBL1P3, Official Symbol KATNBL1P3provided by HGNC Official Full Name katanin regulatory subunit B1 like 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:49053 See related AllianceGenome:HGNC:49053 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KATNBL1P4, Official Symbol KATNBL1P4provided by HGNC Official Full Name katanin regulatory subunit B1 like 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:49054 See related AllianceGenome:HGNC:49054 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KATNBL1P5, Official Symbol KATNBL1P5provided by HGNC Official Full Name katanin regulatory subunit B1 like 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:49055 See related Ensembl:ENSG00000271108 AllianceGenome:HGNC:49055 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KATNIP, Official Symbol KATNIPprovided by HGNC Official Full Name katanin interacting proteinprovided by HGNC Primary source HGNC:HGNC:29068 See related Ensembl:ENSG00000047578 MIM:616650; AllianceGenome:HGNC:29068 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 JBTS26; KIAA0556 Summary This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in thyroid (RPKM 9.1), testis (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
KAZALD1, Official Symbol KAZALD1provided by HGNC Official Full Name Kazal type serine peptidase inhibitor domain 1provided by HGNC Primary source HGNC:HGNC:25460 See related Ensembl:ENSG00000107821 MIM:609208; AllianceGenome:HGNC:25460 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 BONO1; FKSG28; FKSG40; IGFBP-rP10 Summary This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in spleen (RPKM 7.9), stomach (RPKM 5.2) and 17 other tissues See more Orthologs mouse all
KAZN, Official Symbol KAZNprovided by HGNC Official Full Name kazrin, periplakin interacting proteinprovided by HGNC Primary source HGNC:HGNC:29173 See related Ensembl:ENSG00000189337 MIM:618301; AllianceGenome:HGNC:29173 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 KAZ; C1orf196 Summary This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011] Expression Broad expression in spleen (RPKM 16.3), brain (RPKM 5.1) and 17 other tissues See more Orthologs mouse all
KAZN-AS1, Official Symbol KAZN-AS1provided by HGNC Official Full Name KAZN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53610 See related Ensembl:ENSG00000234593 AllianceGenome:HGNC:53610 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
KBTBD11, Official Symbol KBTBD11provided by HGNC Official Full Name kelch repeat and BTB domain containing 11provided by HGNC Primary source HGNC:HGNC:29104 See related Ensembl:ENSG00000176595 MIM:618794; AllianceGenome:HGNC:29104 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 KLHDC7C Expression Broad expression in brain (RPKM 16.2), kidney (RPKM 8.3) and 19 other tissues See more Orthologs mouse all
KBTBD12, Official Symbol KBTBD12provided by HGNC Official Full Name kelch repeat and BTB domain containing 12provided by HGNC Primary source HGNC:HGNC:25731 See related Ensembl:ENSG00000187715 AllianceGenome:HGNC:25731 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 KLHDC6 Expression Biased expression in heart (RPKM 3.3), stomach (RPKM 0.6) and 10 other tissues See more Orthologs mouse all
KBTBD13, Official Symbol KBTBD13provided by HGNC Official Full Name kelch repeat and BTB domain containing 13provided by HGNC Primary source HGNC:HGNC:37227 See related Ensembl:ENSG00000234438 MIM:613727; AllianceGenome:HGNC:37227 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 NEM6; HCG1645727 Summary The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010] Orthologs mouse all
KBTBD2, Official Symbol KBTBD2provided by HGNC Official Full Name kelch repeat and BTB domain containing 2provided by HGNC Primary source HGNC:HGNC:21751 See related Ensembl:ENSG00000170852 MIM:619393; AllianceGenome:HGNC:21751 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 BKLHD1 Summary Predicted to act upstream of or within with a positive effect on several processes, including glucose metabolic process; phosphatidylinositol 3-kinase signaling; and response to insulin. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in gall bladder (RPKM 16.7), bone marrow (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
KBTBD3, Official Symbol KBTBD3provided by HGNC Official Full Name kelch repeat and BTB domain containing 3provided by HGNC Primary source HGNC:HGNC:22934 See related Ensembl:ENSG00000182359 AllianceGenome:HGNC:22934 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 BKLHD3 Expression Ubiquitous expression in brain (RPKM 1.9), thyroid (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
KBTBD4, Official Symbol KBTBD4provided by HGNC Official Full Name kelch repeat and BTB domain containing 4provided by HGNC Primary source HGNC:HGNC:23761 See related Ensembl:ENSG00000123444 MIM:617645; AllianceGenome:HGNC:23761 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 BKLHD4; HSPC252 Expression Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
KBTBD6, Official Symbol KBTBD6provided by HGNC Official Full Name kelch repeat and BTB domain containing 6provided by HGNC Primary source HGNC:HGNC:25340 See related Ensembl:ENSG00000165572 MIM:617738; AllianceGenome:HGNC:25340 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 Involved in proteasome-mediated ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination; and regulation of Rac protein signal transduction. Located in cytoplasm and nucleus. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
KBTBD7, Official Symbol KBTBD7provided by HGNC Official Full Name kelch repeat and BTB domain containing 7provided by HGNC Primary source HGNC:HGNC:25266 See related Ensembl:ENSG00000120696 MIM:617739; AllianceGenome:HGNC:25266 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 transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016] Orthologs mouse all
KBTBD8, Official Symbol KBTBD8provided by HGNC Official Full Name kelch repeat and BTB domain containing 8provided by HGNC Primary source HGNC:HGNC:30691 See related Ensembl:ENSG00000163376 MIM:616607; AllianceGenome:HGNC:30691 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 TAKRP; TA-KRP Summary Involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 10.1), testis (RPKM 4.7) and 14 other tissues See more Orthologs mouse all
KC6, Gene symbol KC6 Gene description keratoconus gene 6 See related Ensembl:ENSG00000267313 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
KCMF1, Official Symbol KCMF1provided by HGNC Official Full Name potassium channel modulatory factor 1provided by HGNC Primary source HGNC:HGNC:20589 See related Ensembl:ENSG00000176407 MIM:614719; AllianceGenome:HGNC:20589 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 FIGC; PCMF; ZZZ1; DEBT91 Summary Enables ubiquitin protein ligase activity. Predicted to be involved in synaptic signaling. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.7), thyroid (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
KCNA1, Official Symbol KCNA1provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 1provided by HGNC Primary source HGNC:HGNC:6218 See related Ensembl:ENSG00000111262 MIM:176260; AllianceGenome:HGNC:6218 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 EA1; MK1; AEMK; HBK1; HUK1; MBK1; RBK1; KV1.1 Summary This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 6.1) and thyroid (RPKM 0.3) See more Orthologs mouse all
KCNA10, Official Symbol KCNA10provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 10provided by HGNC Primary source HGNC:HGNC:6219 See related Ensembl:ENSG00000143105 MIM:602420; AllianceGenome:HGNC:6219 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 Kcn1; Kv1.8 Summary Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008] Orthologs mouse all
KCNA2, Official Symbol KCNA2provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 2provided by HGNC Primary source HGNC:HGNC:6220 See related Ensembl:ENSG00000177301 MIM:176262; AllianceGenome:HGNC:6220 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 HK4; MK2; HBK5; NGK1; RBK2; DEE32; HUKIV; KV1.2; EIEE32 Summary Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 3.3), thyroid (RPKM 0.8) and 3 other tissues See more Orthologs mouse all
KCNA3, Official Symbol KCNA3provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 3provided by HGNC Primary source HGNC:HGNC:6221 See related Ensembl:ENSG00000177272 MIM:176263; AllianceGenome:HGNC:6221 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 MK3; HGK5; HLK3; PCN3; HPCN3; KV1.3; HUKIII Summary Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 7.8), appendix (RPKM 6.0) and 17 other tissues See more Orthologs mouse all
KCNA4, Official Symbol KCNA4provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 4provided by HGNC Primary source HGNC:HGNC:6222 See related Ensembl:ENSG00000182255 MIM:176266; AllianceGenome:HGNC:6222 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 HK1; HBK4; PCN2; HPCN2; HUKII; KCNA8; KV1.4; KCNA4L; MCIDDS Summary Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011] Expression Biased expression in adrenal (RPKM 3.8), brain (RPKM 1.8) and 4 other tissues See more Orthologs mouse all
KCNA5, Official Symbol KCNA5provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 5provided by HGNC Primary source HGNC:HGNC:6224 See related Ensembl:ENSG00000130037 MIM:176267; AllianceGenome:HGNC:6224 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 HK2; HCK1; PCN1; ATFB7; HPCN1; KV1.5 Summary Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012] Orthologs mouse all
KCNA6, Official Symbol KCNA6provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 6provided by HGNC Primary source HGNC:HGNC:6225 See related Ensembl:ENSG00000151079 MIM:176257; AllianceGenome:HGNC:6225 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 HBK2; KV1.6; PPP1R96 Summary Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 7.0), adrenal (RPKM 1.0) and 4 other tissues See more Orthologs mouse all
KCNA7, Official Symbol KCNA7provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 7provided by HGNC Primary source HGNC:HGNC:6226 See related Ensembl:ENSG00000104848 MIM:176268; AllianceGenome:HGNC:6226 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 HAK6; KV1.7 Summary Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
KCNAB1, Official Symbol KCNAB1provided by HGNC Official Full Name potassium voltage-gated channel subfamily A regulatory beta subunit 1provided by HGNC Primary source HGNC:HGNC:6228 See related Ensembl:ENSG00000169282 MIM:601141; AllianceGenome:HGNC:6228 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 hKvb3; AKR6A3; KCNA1B; Kvb1.3; hKvBeta3; KV-BETA-1 Summary Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015] Expression Broad expression in thyroid (RPKM 8.2), fat (RPKM 4.6) and 20 other tissues See more Orthologs mouse all