ENSG00000158445


Homo sapiens

Features
Gene ID: ENSG00000158445
  
Biological name :KCNB1
  
Synonyms : KCNB1 / potassium voltage-gated channel subfamily B member 1 / Q14721
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: q13.13
Gene start: 49293394
Gene end: 49484297
  
Corresponding Affymetrix probe sets: 211006_s_at (Human Genome U133 Plus 2.0 Array)   217637_at (Human Genome U133 Plus 2.0 Array)   231053_at (Human Genome U133 Plus 2.0 Array)   240869_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360806
Ensembl peptide - ENSP00000489908
Ensembl peptide - ENSP00000489766
Ensembl peptide - ENSP00000489193
NCBI entrez gene - 3745     See in Manteia.
OMIM - 600397
RefSeq - XM_006723784
RefSeq - XM_011528799
RefSeq - NM_004975
RefSeq Peptide - NP_004966
swissprot - Q14721
swissprot - A0A1B0GU02
swissprot - A0A1B0GTM8
Ensembl - ENSG00000158445
  
Related genetic diseases (OMIM): 616056 - Epileptic encephalopathy, early infantile, 26, 616056
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kcnb1ENSDARG00000060095Danio rerio
 KCNB1ENSGALG00000004758Gallus gallus
 Kcnb1ENSMUSG00000050556Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KCNB2 / Q92953 / potassium voltage-gated channel subfamily B member 2ENSG0000018267465
KCNV1 / Q6PIU1 / potassium voltage-gated channel modifier subfamily V member 1ENSG0000016479425
KCNS3 / Q9BQ31 / potassium voltage-gated channel modifier subfamily S member 3ENSG0000017074524
KCNS2 / Q9ULS6 / potassium voltage-gated channel modifier subfamily S member 2ENSG0000015648622
KCNF1 / Q9H3M0 / potassium voltage-gated channel modifier subfamily F member 1ENSG0000016297522
KCNG1 / Q9UIX4 / potassium voltage-gated channel modifier subfamily G member 1ENSG0000002655922
KCNS1 / Q96KK3 / potassium voltage-gated channel modifier subfamily S member 1ENSG0000012413421
KCNV2 / Q8TDN2 / potassium voltage-gated channel modifier subfamily V member 2ENSG0000016826321
KCNG4 / Q8TDN1 / potassium voltage-gated channel modifier subfamily G member 4ENSG0000016841820
KCNG3 / Q8TAE7 / potassium voltage-gated channel modifier subfamily G member 3ENSG0000017112619
KCNG2 / Q9UJ96 / potassium voltage-gated channel modifier subfamily G member 2ENSG0000017834219


Protein motifs (from Interpro)
Interpro ID Name
 IPR000210  BTB/POZ domain
 IPR003131  Potassium channel tetramerisation-type BTB domain
 IPR003968  Potassium channel, voltage dependent, Kv
 IPR003973  Potassium channel, voltage dependent, Kv2
 IPR004350  Potassium channel, voltage dependent, Kv2.1
 IPR005821  Ion transport domain
 IPR011333  SKP1/BTB/POZ domain superfamily
 IPR028325  Voltage-gated potassium channel


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001508 action potential IDA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0006904 vesicle docking involved in exocytosis ISS
 biological_processGO:0007215 glutamate receptor signaling pathway ISS
 biological_processGO:0010701 positive regulation of norepinephrine secretion ISS
 biological_processGO:0031669 cellular response to nutrient levels ISS
 biological_processGO:0033605 positive regulation of catecholamine secretion ISS
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0042593 glucose homeostasis ISS
 biological_processGO:0045956 positive regulation of calcium ion-dependent exocytosis ISS
 biological_processGO:0046676 negative regulation of insulin secretion ISS
 biological_processGO:0050796 regulation of insulin secretion TAS
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0071333 cellular response to glucose stimulus ISS
 biological_processGO:0071805 potassium ion transmembrane transport ISS
 biological_processGO:0072659 protein localization to plasma membrane ISS
 biological_processGO:0090314 positive regulation of protein targeting to membrane ISS
 biological_processGO:0098900 regulation of action potential ISS
 biological_processGO:1900454 positive regulation of long term synaptic depression ISS
 biological_processGO:2000671 regulation of motor neuron apoptotic process ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0008076 voltage-gated potassium channel complex ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0032809 neuronal cell body membrane ISS
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043204 perikaryon ISS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005249 voltage-gated potassium channel activity IEA
 molecular_functionGO:0005251 delayed rectifier potassium channel activity ISS
 molecular_functionGO:0005267 potassium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity ISS


Pathways (from Reactome)
Pathway description
Voltage gated Potassium channels
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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