Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CACNG1 Gene

Aliases for CACNG1 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1 2 3
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 1 2 3 5
  • Dihydropyridine-Sensitive L-Type, Skeletal Muscle Calcium Channel Subunit Gamma 3 4
  • CACNLG 3 4
  • Neuronal Dihydropyridine-Sensitive Calcium Channel Gamma Subunit 3
  • L-Type Calcium Channel Gamma Polypeptide 3

External Ids for CACNG1 Gene

Previous HGNC Symbols for CACNG1 Gene

  • CACNLG

Previous GeneCards Identifiers for CACNG1 Gene

  • GC17M063362
  • GC17M066427
  • GC17P065458
  • GC17P065590
  • GC17P062471
  • GC17P065040
  • GC17P060429

Summaries for CACNG1 Gene

Entrez Gene Summary for CACNG1 Gene

  • 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]

GeneCards Summary for CACNG1 Gene

CACNG1 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1) is a Protein Coding gene. Diseases associated with CACNG1 include malignant hyperthermia susceptibility and malignant hyperthermia. Among its related pathways are Cardiac conduction and Netrin Signaling. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNG6.

UniProtKB/Swiss-Prot for CACNG1 Gene

  • This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex.

Gene Wiki entry for CACNG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNG1 Gene

Genomics for CACNG1 Gene

Regulatory Elements for CACNG1 Gene

Promoters for CACNG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CACNG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNG1 Gene

Chromosome:
17
Start:
67,044,536 bp from pter
End:
67,056,797 bp from pter
Size:
12,262 bases
Orientation:
Plus strand

Genomic View for CACNG1 Gene

Genes around CACNG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG1 Gene

Proteins for CACNG1 Gene

  • Protein details for CACNG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06432-CCG1_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-1 subunit
    Protein Accession:
    Q06432
    Secondary Accessions:
    • B2R9N3
    • Q14D59

    Protein attributes for CACNG1 Gene

    Size:
    222 amino acids
    Molecular mass:
    25028 Da
    Quaternary structure:
    • The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma.

neXtProt entry for CACNG1 Gene

Proteomics data for CACNG1 Gene at MOPED

Post-translational modifications for CACNG1 Gene

  • Glycosylation at Asn 43 and Asn 79
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNG1 Gene

Domains & Families for CACNG1 Gene

Gene Families for CACNG1 Gene

Suggested Antigen Peptide Sequences for CACNG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q06432

UniProtKB/Swiss-Prot:

CCG1_HUMAN :
  • Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
Family:
  • Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
genes like me logo Genes that share domains with CACNG1: view

Function for CACNG1 Gene

Molecular function for CACNG1 Gene

GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),L type,dihydropyridine (DHP) sensitive,gamma regulatory subunit 1,30kDa,also expressed in skeletal muscle
UniProtKB/Swiss-Prot Function:
This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex.
genes like me logo Genes that share phenotypes with CACNG1: view

Animal Models for CACNG1 Gene

MGI Knock Outs for CACNG1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNG1 Gene

Localization for CACNG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNG1 Gene COMPARTMENTS Subcellular localization image for CACNG1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CACNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNG1: view

Pathways & Interactions for CACNG1 Gene

genes like me logo Genes that share pathways with CACNG1: view

Interacting Proteins for CACNG1 Gene

Gene Ontology (GO) - Biological Process for CACNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8387489
GO:0006936 muscle contraction TAS 8387489
GO:0070296 sarcoplasmic reticulum calcium ion transport IEA --
genes like me logo Genes that share ontologies with CACNG1: view

No data available for SIGNOR curated interactions for CACNG1 Gene

Drugs & Compounds for CACNG1 Gene

(13) Drugs for CACNG1 Gene - From: DGIdb, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diltiazem Approved Pharma Channel blocker, blocker, Target, inhibitor 70
Lercanidipine Approved, Investigational Pharma blocker, Target, inhibitor 11
Nitrendipine Approved Pharma Inhibition, Pore Blocker, blocker, Target, inhibitor Calcium channel blocker 5
Ethanol Approved Pharma Target 1839
Fluspirilene Approved Pharma Antagonist, Target, inhibitor 0
genes like me logo Genes that share compounds with CACNG1: view

Transcripts for CACNG1 Gene

mRNA/cDNA for CACNG1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACNG1 Gene

Calcium channel, voltage-dependent, gamma subunit 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG1 Gene

No ASD Table

Relevant External Links for CACNG1 Gene

GeneLoc Exon Structure for
CACNG1
ECgene alternative splicing isoforms for
CACNG1

Expression for CACNG1 Gene

mRNA expression in normal human tissues for CACNG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNG1 Gene

This gene is overexpressed in Muscle - Skeletal (x49.8).

Protein differential expression in normal tissues from HIPED for CACNG1 Gene

This gene is overexpressed in Tonsil (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNG1 Gene



SOURCE GeneReport for Unigene cluster for CACNG1 Gene Hs.147989

mRNA Expression by UniProt/SwissProt for CACNG1 Gene

Q06432-CCG1_HUMAN
Tissue specificity: Skeletal muscle.
genes like me logo Genes that share expression patterns with CACNG1: view

Protein tissue co-expression partners for CACNG1 Gene

Primer Products

In Situ Assay Products

Orthologs for CACNG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNG1 35
  • 99.85 (n)
  • 99.55 (a)
CACNG1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNG1 36
  • 81 (a)
OneToOne
CACNG1 35
  • 83.63 (n)
  • 81.08 (a)
dog
(Canis familiaris)
Mammalia CACNG1 35
  • 87.39 (n)
  • 86.49 (a)
CACNG1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacng1 36
  • 85 (a)
OneToOne
Cacng1 16
Cacng1 35
  • 80.93 (n)
  • 85.59 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNG1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNG1 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacng1 35
  • 81.68 (n)
  • 83.78 (a)
chicken
(Gallus gallus)
Aves CACNG1 36
  • 72 (a)
OneToMany
CACNG1 36
  • 72 (a)
OneToMany
CACNG1 35
  • 75.68 (n)
  • 72.97 (a)
lizard
(Anolis carolinensis)
Reptilia CACNG1 36
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15784 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cacng1 35
  • 71.95 (n)
  • 64.71 (a)
Str.8246 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8319 35
zebrafish
(Danio rerio)
Actinopterygii cacng1 36
  • 65 (a)
OneToMany
CACNG1 (2 of 2) 36
  • 69 (a)
OneToMany
Dr.5411 35
LOC571193 35
  • 73.15 (n)
  • 71.04 (a)
Species with no ortholog for CACNG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CACNG1 Gene

ENSEMBL:
Gene Tree for CACNG1 (if available)
TreeFam:
Gene Tree for CACNG1 (if available)

Paralogs for CACNG1 Gene

Paralogs for CACNG1 Gene

(1) SIMAP similar genes for CACNG1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CACNG1: view

Variants for CACNG1 Gene

Sequence variations from dbSNP and Humsavar for CACNG1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1799938 - 67,056,188(+) TCGGC(A/G)GTCTC reference, missense
rs2363843 -- 67,049,670(+) TCCAC(C/T)CAAGT intron-variant
rs2363844 -- 67,055,064(+) CTCCC(A/G)TGCTG intron-variant
rs4790894 -- 67,048,326(-) ttttt(G/T)ttttt intron-variant
rs3760258 -- 67,042,673(-) TGTCA(C/T)CAGGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CACNG1 Gene

Variant ID Type Subtype PubMed ID
nsv469731 CNV Loss 16826518
nsv9586 CNV Loss 18304495
nsv908690 CNV Loss 21882294

Variation tolerance for CACNG1 Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNG1 Gene

HapMap Linkage Disequilibrium report
CACNG1
Human Gene Mutation Database (HGMD)
CACNG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNG1 Gene

Disorders for CACNG1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CACNG1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
malignant hyperthermia susceptibility
  • malignant hyperpyrexia
malignant hyperthermia
  • anesthesia related hyperthermia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CACNG1

Genetic Association Database (GAD)
CACNG1
Human Genome Epidemiology (HuGE) Navigator
CACNG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNG1
genes like me logo Genes that share disorders with CACNG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNG1 Gene

Publications for CACNG1 Gene

  1. 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. (PMID: 8404045) Iles D.E. … Wieringa B. (Cytogenet. Cell Genet. 1993) 3 4 23 67
  2. Treatment of essential hypertension with calcium channel blockers: what is the place of lercanidipine? (PMID: 19619074) Burnier M. … Wuerzner G. (Expert Opin Drug Metab Toxicol 2009) 25 26
  3. Ligands of diltiazem binding site: an overview of some chemotypes. (PMID: 19929811) Budriesi R. … Chiarini A. (Mini Rev Med Chem 2009) 25 26
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for CACNG1 Gene

Sources for CACNG1 Gene

Back to Top

Content