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CACNA1S calcium voltage-gated channel subunit alpha1 S [ Homo sapiens (human) ]

Gene ID: 779, updated on 8-May-2016
Official Symbol
CACNA1Sprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Sprovided by HGNC
Primary source
HGNC:HGNC:1397
See related
Ensembl:ENSG00000081248 HPRD:00248; MIM:114208; Vega:OTTHUMG00000035784
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
MHS5; HOKPP; TTPP1; Cav1.1; HOKPP1; hypoPP; CCHL1A3; CACNL1A3
Summary
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
Orthologs
Location:
1q32
Exon count:
44
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (201039507..201112566, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201008635..201081694, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene maestro heat like repeat family member 3, pseudogene Neighboring gene kinesin family member 21B Neighboring gene uncharacterized LOC101929305 Neighboring gene achaete-scute family bHLH transcription factor 5 Neighboring gene transmembrane protein 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in CACNA1S that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2016-01-18)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2016-01-18)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genome-wide association study identifies four loci associated with eruption of permanent teeth.
NHGRI GWA Catalog
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  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
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  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
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  • Cardiac muscle contraction, conserved biosystem (from KEGG)
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  • Cholinergic synapse, organism-specific biosystem (from KEGG)
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  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
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  • GABAergic synapse, organism-specific biosystem (from KEGG)
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
high voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
cardiac conduction TAS
Traceable Author Statement
more info
 
membrane depolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
I band IDA
Inferred from Direct Assay
more info
PubMed 
T-tubule IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
voltage-dependent L-type calcium channel subunit alpha-1S
Names
calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis)
calcium channel, voltage-dependent, L type, alpha 1S subunit
dihydropyridine receptor
dihydropyridine receptor alpha 1 subunit
dihydropyridine-sensitive L-type calcium channel alpha-1 subunit
voltage-gated calcium channel subunit alpha Cav1.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009816.1 RefSeqGene

    Range
    5001..78055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000069.2NP_000060.2  voltage-dependent L-type calcium channel subunit alpha-1S

    See identical proteins and their annotated locations for NP_000060.2

    Status: REVIEWED

    Source sequence(s)
    AL139159, AL358473
    Consensus CDS
    CCDS1407.1
    UniProtKB/Swiss-Prot
    Q13698
    Related
    ENSP00000355192, OTTHUMP00000033931, ENST00000362061, OTTHUMT00000087049
    Conserved Domains (2) summary
    pfam08763
    Location:15161546
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:11521380
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    201039507..201112566 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245478.2XP_005245535.1  

    UniProtKB/TrEMBL
    B1ALM3
    Related
    ENSP00000356307, OTTHUMP00000033932, ENST00000367338, OTTHUMT00000087050
    Conserved Domains (2) summary
    pfam08763
    Location:14971527
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam00520
    Location:11521361
    Ion_trans; Ion transport protein

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    202431280..202504354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)