ENSG00000100346


Homo sapiens

Features
Gene ID: ENSG00000100346
  
Biological name :CACNA1I
  
Synonyms : CACNA1I / calcium voltage-gated channel subunit alpha1 I / Q9P0X4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q13.1
Gene start: 39570753
Gene end: 39689737
  
Corresponding Affymetrix probe sets: 208299_at (Human Genome U133 Plus 2.0 Array)   211830_s_at (Human Genome U133 Plus 2.0 Array)   221631_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000383887
Ensembl peptide - ENSP00000384093
Ensembl peptide - ENSP00000385019
Ensembl peptide - ENSP00000385680
NCBI entrez gene - 8911     See in Manteia.
OMIM - 608230
RefSeq - XM_017029037
RefSeq - NM_001003406
RefSeq - NM_021096
RefSeq - XM_017029035
RefSeq - XM_017029036
RefSeq Peptide - NP_001003406
RefSeq Peptide - NP_066919
swissprot - Q9P0X4
Ensembl - ENSG00000100346
  
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
 cacna1iENSDARG00000070522Danio rerio
 LO017974.1ENSDARG00000115741Danio rerio
 si:ch73-379f7.5ENSDARG00000096307Danio rerio
 CACNA1IENSGALG00000035051Gallus gallus
 Cacna1iENSMUSG00000022416Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O95180 / CACNA1H / calcium voltage-gated channel subunit alpha1 HENSG0000019655756
O43497 / CACNA1G / calcium voltage-gated channel subunit alpha1 GENSG0000000628351
SCN9A / Q15858 / sodium voltage-gated channel alpha subunit 9ENSG0000016943222
SCN2A / Q99250 / sodium voltage-gated channel alpha subunit 2ENSG0000013653122
SCN3A / Q9NY46 / sodium voltage-gated channel alpha subunit 3ENSG0000015325321
SCN5A / Q14524 / sodium voltage-gated channel alpha subunit 5ENSG0000018387321
SCN8A / Q9UQD0 / sodium voltage-gated channel alpha subunit 8ENSG0000019687621
SCN1A / P35498 / sodium voltage-gated channel alpha subunit 1ENSG0000014428521
SCN4A / P35499 / sodium voltage-gated channel alpha subunit 4ENSG0000000731420
Q9Y5Y9 / SCN10A / sodium voltage-gated channel alpha subunit 10ENSG0000018531319
Q9UI33 / SCN11A / sodium voltage-gated channel alpha subunit 11ENSG0000016835619
SCN7A / Q01118 / sodium voltage-gated channel alpha subunit 7ENSG0000013654617


Protein motifs (from Interpro)
Interpro ID Name
 IPR002077  Voltage-dependent calcium channel, alpha-1 subunit
 IPR005445  Voltage-dependent calcium channel, T-type, alpha-1 subunit
 IPR005821  Ion transport domain
 IPR030162  Voltage-dependent calcium channel, T-type, alpha-1I subunit


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0019228 neuronal action potential IBA
 biological_processGO:0030317 flagellated sperm motility IEA
 biological_processGO:0030431 sleep IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0045956 positive regulation of calcium ion-dependent exocytosis IBA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070509 calcium ion import IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086010 membrane depolarization during action potential IBA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005891 voltage-gated calcium channel complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity TAS
 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 IEA


Pathways (from Reactome)
Pathway description
NCAM1 interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


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






 

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