CACNG1

Protein-coding gene in the species Homo sapiens
CACNG1
Identifiers
AliasesCACNG1, CACNLG, calcium voltage-gated channel auxiliary subunit gamma 1
External IDsOMIM: 114209 MGI: 1206582 HomoloGene: 582 GeneCards: CACNG1
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for CACNG1
Genomic location for CACNG1
Band17q24.2Start67,044,554 bp[1]
End67,056,797 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for CACNG1
Genomic location for CACNG1
Band11|11 E1Start107,594,044 bp[2]
End107,607,348 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastrocnemius muscle

  • triceps brachii muscle

  • quadriceps femoris muscle

  • vastus lateralis muscle

  • skeletal muscle tissue

  • thoracic diaphragm

  • deltoid muscle

  • tibialis anterior muscle

  • body of tongue

  • jejunum
Top expressed in
  • masseter muscle

  • temporal muscle

  • extensor digitorum longus muscle

  • ankle

  • plantaris muscle

  • quadriceps femoris muscle

  • tibialis anterior muscle

  • triceps brachii muscle

  • esophagus

  • sternocleidomastoid muscle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • voltage-gated calcium channel activity
  • protein binding
  • voltage-gated ion channel activity
  • calcium channel activity
  • calcium channel regulator activity
Cellular component
  • voltage-gated calcium channel complex
  • integral component of membrane
  • plasma membrane
  • membrane
  • integral component of plasma membrane
  • T-tubule
  • sarcolemma
  • L-type voltage-gated calcium channel complex
Biological process
  • regulation of ion transmembrane transport
  • muscle contraction
  • ion transport
  • calcium ion transmembrane transport
  • sarcoplasmic reticulum calcium ion transport
  • calcium ion transport
  • regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
  • cardiac conduction
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

786

12299

Ensembl

ENSG00000108878

ENSMUSG00000020722

UniProt

Q06432

O70578

RefSeq (mRNA)

NM_000727

NM_007582

RefSeq (protein)

NP_000718

NP_031608

Location (UCSC)Chr 17: 67.04 – 67.06 MbChr 11: 107.59 – 107.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Voltage-dependent calcium channel gamma-1 subunit is a protein that in humans is encoded by the CACNG1 gene.[5][6]

L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several 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 a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108878 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020722 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, Hopkins PM, Ellis FR, Hall-Curran JL, Stewart AD, et al. (Oct 1993). "Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility". Hum Mol Genet. 2 (7): 863–8. doi:10.1093/hmg/2.7.863. PMID 8395940.
  6. ^ a b "Entrez Gene: CACNG1 calcium channel, voltage-dependent, gamma subunit 1".

Further reading

  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Chu PJ, Robertson HM, Best PM (2002). "Calcium channel gamma subunits provide insights into the evolution of this gene family". Gene. 280 (1–2): 37–48. doi:10.1016/S0378-1119(01)00738-7. PMID 11738816.
  • Burgess DL, Gefrides LA, Foreman PJ, Noebels JL (2001). "A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family". Genomics. 71 (3): 339–50. doi:10.1006/geno.2000.6440. PMID 11170751.
  • Burgess DL, Davis CF, Gefrides LA, Noebels JL (2000). "Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication". Genome Res. 9 (12): 1204–13. doi:10.1101/gr.9.12.1204. PMC 311002. PMID 10613843.
  • Iles DE, Segers B, Weghuis DO, et al. (1993). "Localization of the gamma-subunit of the skeletal muscle L-type voltage-dependent calcium channel gene (CACNLG) to human chromosome band 17q24 by in situ hybridization and identification of a polymorphic repetitive DNA sequence at the gene locus". Cytogenet. Cell Genet. 64 (3–4): 227–30. doi:10.1159/000133583. PMID 8404045.
  • Powers PA, Liu S, Hogan K, Gregg RG (1993). "Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location". J. Biol. Chem. 268 (13): 9275–9. doi:10.1016/S0021-9258(18)98346-8. PMID 8387489.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

  • v
  • t
  • e
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders