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

Gene ID: 779, updated on 25-Apr-2020

Summary

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 MIM:114208
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]
Expression
Biased expression in esophagus (RPKM 1.7), prostate (RPKM 1.6) and 4 other tissues See more
Orthologs

Genomic context

See CACNA1S in Genome Data Viewer
Location:
1q32.1
Exon count:
44
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (201039509..201112453, 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 kinesin family member 21B Neighboring gene Sharpr-MPRA regulatory region 10908 Neighboring gene uncharacterized LOC101929305 Neighboring gene Sharpr-MPRA regulatory region 14143 Neighboring gene achaete-scute family bHLH transcription factor 5 Neighboring gene transmembrane protein 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
calcium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
cardiac conduction TAS
Traceable Author Statement
more info
 
cellular response to caffeine ISS
Inferred from Sequence or Structural Similarity
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 
L-type voltage-gated calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
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 

General protein information

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 alpha 1 subunit
dihydropyridine-sensitive L-type calcium channel alpha-1 subunit
voltage-gated calcium channel subunit alpha Cav1.1

NCBI Reference Sequences (RefSeq)

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_009816.2 RefSeqGene

    Range
    5141..78055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000069.3NP_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
    ENSP00000355192.3, ENST00000362061.4
    Conserved Domains (5) summary
    pfam00520
    Location:11351392
    Ion_trans; Ion transport protein
    pfam05104
    Location:671777
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam08763
    Location:14651536
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16921833
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:14001463
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    201039509..201112453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245478.3XP_005245535.1  voltage-dependent L-type calcium channel subunit alpha-1S isoform X1

    UniProtKB/TrEMBL
    B1ALM3
    Related
    ENSP00000356307.3, ENST00000367338.7
    Conserved Domains (5) summary
    pfam00520
    Location:11351373
    Ion_trans; Ion transport protein
    pfam05104
    Location:671777
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam08763
    Location:14461517
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:16731814
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:13811444
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
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