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

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; AllianceGenome:HGNC:1397
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; DHPRM; HOKPP; TTPP1; CMYO18; CMYP18; 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: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (201039512..201112426, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (200296459..200369410, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (201008640..201081554, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CaV1.1 voltage-sensing domain III exclusively controls skeletal muscle excitation-contraction coupling.
Title: Ca(V)1.1 voltage-sensing domain III exclusively controls skeletal muscle excitation-contraction coupling.
CACNA1S mutation-associated dental anomalies: A calcium channelopathy.
Title: CACNA1S mutation-associated dental anomalies: A calcium channelopathy.
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
Title: Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Title: CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Title: Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Title: Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
MRTF-A regulates Ca(2+) release through CACNA1S.
Title: MRTF-A regulates Ca(2+) release through CACNA1S.
Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP.
Title: Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP.
Structural determinants of voltage-gating properties in calcium channels.
Title: Structural determinants of voltage-gating properties in calcium channels.
Mutation spectrum and health status in skeletal muscle channelopathies in Japan.
Title: Mutation spectrum and health status in skeletal muscle channelopathies in Japan.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Associated conditions

Description	Tests
Congenital myopathy 18 MedGen: C5830283 OMIM: 620246 GeneReviews: Not available	not available
Hypokalemic periodic paralysis, type 1 MedGen: C3714580 OMIM: 170400 GeneReviews: Hypokalemic Periodic Paralysis	not available
Malignant hyperthermia, susceptibility to, 5 MedGen: C1866077 OMIM: 601887 GeneReviews: Malignant Hyperthermia Susceptibility	not available
Thyrotoxic periodic paralysis, susceptibility to, 1 MedGen: C2749982 OMIM: 188580 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study identifies four loci associated with eruption of permanent teeth. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL033885 (e-PCR)
- UniSTS:93761

CACNA1S (e-PCR)
- UniSTS:506438

SHGC-149005 (e-PCR)
- UniSTS:176734

SHGC-76114 (e-PCR)
- UniSTS:24688

G09493 (e-PCR)
- UniSTS:67957

SHGC-76141 (e-PCR)
- UniSTS:50052

CACNA1S_2396 (e-PCR)
- UniSTS:280472

GDB:196341 (e-PCR)
- UniSTS:155833

RH71040 (e-PCR)
- UniSTS:51906

GDB:373596 (e-PCR)
- UniSTS:156910

D1S3520 (e-PCR)
- UniSTS:34808

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables high voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables high voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular function activator activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small molecule binding	EXP Inferred from Experiment more info	PubMed
enables voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to caffeine	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum organization	IEA Inferred from Electronic Annotation more info
involved_in extraocular skeletal muscle development	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast fusion	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular junction development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of muscle contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle adaptation	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in striated muscle contraction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
part_of L-type voltage-gated calcium channel complex	ISO Inferred from Sequence Orthology more info
part_of L-type voltage-gated calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in T-tubule	IDA Inferred from Direct Assay more info	PubMed
located_in T-tubule	IMP Inferred from Mutant Phenotype more info	PubMed
located_in T-tubule	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
part_of voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated calcium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: voltage-dependent L-type calcium channel subunit alpha-1S

Names: 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)

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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

NG_009816.2 RefSeqGene

Range

5141..78055

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000069.3 → NP_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

A4IF51, B1ALM2, Q12896, Q13698, Q13934

UniProtKB/TrEMBL

A0A7P0T8M7

Related

ENSP00000355192.3, ENST00000362061.4

Conserved Domains (5) summary

pfam00520
Location:1135 → 1392

Ion_trans; Ion transport protein

pfam05104
Location:671 → 777

Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region

pfam08763
Location:1465 → 1536

Ca_chan_IQ; Voltage gated calcium channel IQ domain

pfam16885
Location:1692 → 1833

CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term

pfam16905
Location:1400 → 1463

GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

201039512..201112426 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005245478.4 → XP_005245535.1 voltage-dependent L-type calcium channel subunit alpha-1S isoform X1

UniProtKB/TrEMBL

A0A7P0T8M7, B1ALM3

Related

ENSP00000356307.3, ENST00000367338.7

Conserved Domains (5) summary

pfam00520
Location:1135 → 1373

Ion_trans; Ion transport protein

pfam05104
Location:671 → 777

Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region

pfam08763
Location:1446 → 1517

Ca_chan_IQ; Voltage gated calcium channel IQ domain

pfam16885
Location:1673 → 1814

CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term

pfam16905
Location:1381 → 1444

GPHH; Voltage-dependent L-type calcium channel, IQ-associated