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GeneQ14905744· pop 6· linked from 387 articles

CACNA1C

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Also known as CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS, calcium voltage-gated channel subunit alpha1 C

Voltage-dependent L-type calcium channel subunit alpha-1C (also known as Cav1.2) is a protein that in humans is encoded by the CACNA1C gene. Cav1.2 is a subunit of L-type voltage-dependent calcium channel.

Gene data

CACNA1C
Name
calcium voltage-gated channel subunit alpha1 C
Type
protein-coding
Position
1,970,690–2,697,950 (+)
Aliases
CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS. LQT8
Ensembl
ENSG00000285479
RefSeq RNA
NM_000719.7, NM_001129827.2, NM_001129829.2, NM_001129830.3, NM_001129831.2
RefSeq protein
NP_000710.5, NP_001123299.1, NP_001123301.1, NP_001123302.2, NP_001123303.1

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012].

Gene Ontology

Pathways

MAPK signaling pathway - Homo sapiens (human)Calcium signaling pathway - Homo sapiens (human)cGMP-PKG signaling pathway - Homo sapiens (human)cAMP signaling pathway - Homo sapiens (human)Cardiac muscle contraction - Homo sapiens (human)Adrenergic signaling in cardiomyocytes - Homo sapiens (human)Vascular smooth muscle contraction - Homo sapiens (human)Circadian entrainment - Homo sapiens (human)Long-term potentiation - Homo sapiens (human)Retrograde endocannabinoid signaling - Homo sapiens (human)

via MyGene.info

Gene · Ensembl

calcium voltage-gated channel subunit alpha1 C

Symbol
CACNA1C
Biotype
Protein coding
Organism
Homo sapiens
Location
12:1,970,690-2,697,950
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Image
Structure of the human L-type voltage-gated calcium channel Cav1.2 complexed with gabapentin subunit alpha-1C 8FD7.png
Show 7 more facts
HomoloGene ID
55484
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/775
genomic end
2802108
genomic start
1970772
chromosome
human chromosome 12
cytogenetic location
12p13.33
Sources (6)

via Wikidata · CC0

~7 min read

Encyclopedic overview

13 sections
Contents
  • Structure and function
  • Regulation
  • Clinical significance
  • Relevance of ''CACNA1C'' in clinical disorders
  • Timothy Syndrome
  • LongQT Type 8
  • Insufficient evidence: Brugada Syndrome
  • Moderate/low impact variants
  • Interactive pathway map
  • See also
  • References
  • Further reading
  • External links

Voltage-dependent L-type calcium channel subunit alpha-1C (also known as Cav1.2) is a protein that in humans is encoded by the CACNA1C gene. Cav1.2 is a subunit of L-type voltage-dependent calcium channel.

== Structure and function ==

Excerpted from Wikipedia’s “CACNA1C” article, available under the CC BY-SA 4.0 licence.

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via Wikidata sitelinks · CC0