CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACNG1provided by HGNC
Official Full Name: calcium voltage-gated channel auxiliary subunit gamma 1provided by HGNC
Primary source: HGNC:HGNC:1405
See related: Ensembl:ENSG00000108878 MIM:114209; AllianceGenome:HGNC:1405
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: CACNLG
Summary: Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]
Expression: Biased expression in esophagus (RPKM 1.9), prostate (RPKM 1.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q24.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (67044554..67056797)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (67920364..67932598)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (65040670..65052913)

Chromosome 17 - NC_000017.11 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?

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of calcium channel, voltage-dependent, gamma subunit 1 (CACNG1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17604 (e-PCR)
- UniSTS:55591

SHGC-12505 (e-PCR)
- UniSTS:50748

GDB:235907 (e-PCR)
- UniSTS:156276

GDB:250204 (e-PCR)
- UniSTS:156290

CACNG1__2503 (e-PCR)
- UniSTS:280473

NoName (e-PCR)
- UniSTS:481708

NoName (e-PCR)
- UniSTS:484296

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated calcium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of muscle contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS Inferred from Sequence or Structural Similarity more info
involved_in sarcoplasmic reticulum calcium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of L-type voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
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	ISS Inferred from Sequence or Structural Similarity more info
located_in T-tubule	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcolemma	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: voltage-dependent calcium channel gamma-1 subunit

Names: L-type calcium channel gamma polypeptide; calcium channel, voltage-dependent, gamma subunit 1; dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma; neuronal dihydropyridine-sensitive calcium channel gamma subunit

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.