ENSG00000196557


Homo sapiens

Features
Gene ID: ENSG00000196557
  
Biological name :CACNA1H
  
Synonyms : CACNA1H / calcium voltage-gated channel subunit alpha1 H / O95180
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p13.3
Gene start: 1153121
Gene end: 1221772
  
Corresponding Affymetrix probe sets: 205845_at (Human Genome U133 Plus 2.0 Array)   222960_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457555
Ensembl peptide - ENSP00000455840
Ensembl peptide - ENSP00000491488
Ensembl peptide - ENSP00000492650
Ensembl peptide - ENSP00000492267
Ensembl peptide - ENSP00000491945
Ensembl peptide - ENSP00000334198
Ensembl peptide - ENSP00000351401
Ensembl peptide - ENSP00000454581
Ensembl peptide - ENSP00000454990
NCBI entrez gene - 8912     See in Manteia.
OMIM - 607904
RefSeq - XM_017023821
RefSeq - NM_021098
RefSeq - XM_005255652
RefSeq - XM_006720963
RefSeq - XM_006720964
RefSeq - XM_006720965
RefSeq - XM_006720967
RefSeq - XM_006720968
RefSeq - XM_011522724
RefSeq - XM_017023819
RefSeq - XM_017023820
RefSeq - NM_001005407
RefSeq Peptide - NP_001005407
RefSeq Peptide - NP_066921
swissprot - A0A1W2PQW2
swissprot - H3BMW6
swissprot - H3BNT0
swissprot - A0A1W2PS38
swissprot - O95180
swissprot - A0A1W2PQ19
swissprot - H3BUA8
swissprot - A0A1W2PR14
Ensembl - ENSG00000196557
  
Related genetic diseases (OMIM): 611942 - {Epilepsy, childhood absence, susceptibility to, 6}, 611942
  617027 - Hyperaldosteronism, familial, type IV, 617027
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
 cacna1haENSDARG00000060496Danio rerio
 cacna1hbENSDARG00000099708Danio rerio
 CACNA1HENSGALG00000005215Gallus gallus
 Cacna1hENSMUSG00000024112Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O43497 / CACNA1G / calcium voltage-gated channel subunit alpha1 GENSG0000000628355
Q9P0X4 / CACNA1I / calcium voltage-gated channel subunit alpha1 IENSG0000010034653
SCN2A / Q99250 / sodium voltage-gated channel alpha subunit 2ENSG0000013653121
SCN1A / P35498 / sodium voltage-gated channel alpha subunit 1ENSG0000014428521
SCN3A / Q9NY46 / sodium voltage-gated channel alpha subunit 3ENSG0000015325321
SCN9A / Q15858 / sodium voltage-gated channel alpha subunit 9ENSG0000016943221
SCN8A / Q9UQD0 / sodium voltage-gated channel alpha subunit 8ENSG0000019687621
SCN4A / P35499 / sodium voltage-gated channel alpha subunit 4ENSG0000000731420
SCN5A / Q14524 / sodium voltage-gated channel alpha subunit 5ENSG0000018387320
Q9Y5Y9 / SCN10A / sodium voltage-gated channel alpha subunit 10ENSG0000018531320
Q9UI33 / SCN11A / sodium voltage-gated channel alpha subunit 11ENSG0000016835618
SCN7A / Q01118 / sodium voltage-gated channel alpha subunit 7ENSG0000013654616


Protein motifs (from Interpro)
Interpro ID Name
 IPR005445  Voltage-dependent calcium channel, T-type, alpha-1 subunit
 IPR005821  Ion transport domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006936 muscle contraction TAS
 biological_processGO:0007517 muscle organ development NAS
 biological_processGO:0007520 myoblast fusion TAS
 biological_processGO:0008016 regulation of heart contraction TAS
 biological_processGO:0019228 neuronal action potential IBA
 biological_processGO:0032342 aldosterone biosynthetic process IMP
 biological_processGO:0032870 cellular response to hormone stimulus IEP
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034651 cortisol biosynthetic process IMP
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0035865 cellular response to potassium ion IEP
 biological_processGO:0042391 regulation of membrane potential IDA
 biological_processGO:0045956 positive regulation of calcium ion-dependent exocytosis IBA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070509 calcium ion import IDA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086010 membrane depolarization during action potential IBA
 biological_processGO:0098662 inorganic cation transmembrane transport IDA
 biological_processGO:2000344 positive regulation of acrosome reaction IMP
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0005891 voltage-gated calcium channel complex TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IDA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IBA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008332 low voltage-gated calcium channel activity TAS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0097110 scaffold protein binding IPI


Pathways (from Reactome)
Pathway description
NCAM1 interactions


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]
Show

 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000149294 NCAM1 / P13591 / neural cell adhesion molecule 1  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr