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Protein

Voltage-dependent calcium channel gamma-6 subunit

Gene

CACNG6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Thought to stabilize the calcium channel in an inactivated (closed) state.By similarity

GO - Molecular functioni

  • voltage-gated calcium channel activity Source: UniProtKB

GO - Biological processi

  • calcium ion transport Source: UniProtKB
  • cardiac conduction Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiR-HSA-5576892. Phase 0 - rapid depolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5576894. Phase 1 - inactivation of fast Na+ channels.

Protein family/group databases

TCDBi8.A.16.1.2. the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent calcium channel gamma-6 subunit
Alternative name(s):
Neuronal voltage-gated calcium channel gamma-6 subunit
Gene namesi
Name:CACNG6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:13625. CACNG6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei43 – 6321HelicalSequence analysisAdd
BLAST
Transmembranei143 – 16321HelicalSequence analysisAdd
BLAST
Transmembranei169 – 18921HelicalSequence analysisAdd
BLAST
Transmembranei221 – 24121HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • plasma membrane Source: Reactome
  • voltage-gated calcium channel complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26020.

Chemistry

ChEMBLiCHEMBL2363032.

Polymorphism and mutation databases

BioMutaiCACNG6.
DMDMi20532019.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 260260Voltage-dependent calcium channel gamma-6 subunitPRO_0000164684Add
BLAST

Proteomic databases

EPDiQ9BXT2.
PaxDbiQ9BXT2.
PeptideAtlasiQ9BXT2.
PRIDEiQ9BXT2.

PTM databases

iPTMnetiQ9BXT2.

Expressioni

Gene expression databases

BgeeiQ9BXT2.
CleanExiHS_CACNG6.
ExpressionAtlasiQ9BXT2. baseline and differential.
GenevisibleiQ9BXT2. HS.

Interactioni

Subunit structurei

The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma.

Protein-protein interaction databases

STRINGi9606.ENSP00000252729.

Structurei

3D structure databases

ProteinModelPortaliQ9BXT2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IWHM. Eukaryota.
ENOG4111I1Z. LUCA.
GeneTreeiENSGT00390000007786.
HOGENOMiHOG000293219.
HOVERGENiHBG003868.
InParanoidiQ9BXT2.
KOiK04871.
OMAiGEANCTY.
OrthoDBiEOG7WQ7TF.
PhylomeDBiQ9BXT2.
TreeFamiTF331651.

Family and domain databases

InterProiIPR004031. PMP22/EMP/MP20/Claudin.
IPR008370. VDCC_g6su.
IPR008368. VDCC_gsu.
[Graphical view]
PfamiPF13903. Claudin_2. 1 hit.
[Graphical view]
PRINTSiPR01792. VDCCGAMMA.
PR01794. VDCCGAMMA6.

Sequencei

Sequence statusi: Complete.

Q9BXT2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMWSNFFLQE ENRRRGAAGR RRAHGQGRSG LTPEREGKVK LALLLAAVGA
60 70 80 90 100
TLAVLSVGTE FWVELNTYKA NGSAVCEAAH LGLWKACTKR LWQADVPVDR
110 120 130 140 150
DTCGPAELPG EANCTYFKFF TTGENARIFQ RTTKKEVNLA AAVIAVLGLA
160 170 180 190 200
VMALGCLCII MVLSKGAEFL LRVGAVCFGL SGLLLLVSLE VFRHSVRALL
210 220 230 240 250
QRVSPEPPPA PRLTYEYSWS LGCGVGAGLI LLLGAGCFLL LTLPSWPWGS
260
LCPKRGHRAT
Length:260
Mass (Da):28,129
Last modified:June 1, 2001 - v1
Checksum:i674433E331FD9974
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti252 – 2521C → S.
Corresponds to variant rs12980121 [ dbSNP | Ensembl ].
VAR_061540

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF288386 mRNA. Translation: AAK20029.1.
AF361352 mRNA. Translation: AAL50047.1.
BC021552 mRNA. Translation: AAH21552.1.
CCDSiCCDS12870.1.
RefSeqiNP_114103.2. NM_031897.2.
NP_665813.1. NM_145814.1.
NP_665814.1. NM_145815.1.
UniGeneiHs.631560.

Genome annotation databases

EnsembliENST00000252729; ENSP00000252729; ENSG00000130433.
GeneIDi59285.
KEGGihsa:59285.
UCSCiuc002qct.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF288386 mRNA. Translation: AAK20029.1.
AF361352 mRNA. Translation: AAL50047.1.
BC021552 mRNA. Translation: AAH21552.1.
CCDSiCCDS12870.1.
RefSeqiNP_114103.2. NM_031897.2.
NP_665813.1. NM_145814.1.
NP_665814.1. NM_145815.1.
UniGeneiHs.631560.

3D structure databases

ProteinModelPortaliQ9BXT2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000252729.

Chemistry

ChEMBLiCHEMBL2363032.

Protein family/group databases

TCDBi8.A.16.1.2. the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.

PTM databases

iPTMnetiQ9BXT2.

Polymorphism and mutation databases

BioMutaiCACNG6.
DMDMi20532019.

Proteomic databases

EPDiQ9BXT2.
PaxDbiQ9BXT2.
PeptideAtlasiQ9BXT2.
PRIDEiQ9BXT2.

Protocols and materials databases

DNASUi59285.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252729; ENSP00000252729; ENSG00000130433.
GeneIDi59285.
KEGGihsa:59285.
UCSCiuc002qct.4. human.

Organism-specific databases

CTDi59285.
GeneCardsiCACNG6.
HGNCiHGNC:13625. CACNG6.
MIMi606898. gene.
neXtProtiNX_Q9BXT2.
PharmGKBiPA26020.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWHM. Eukaryota.
ENOG4111I1Z. LUCA.
GeneTreeiENSGT00390000007786.
HOGENOMiHOG000293219.
HOVERGENiHBG003868.
InParanoidiQ9BXT2.
KOiK04871.
OMAiGEANCTY.
OrthoDBiEOG7WQ7TF.
PhylomeDBiQ9BXT2.
TreeFamiTF331651.

Enzyme and pathway databases

ReactomeiR-HSA-5576892. Phase 0 - rapid depolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5576894. Phase 1 - inactivation of fast Na+ channels.

Miscellaneous databases

GenomeRNAii59285.
PROiQ9BXT2.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BXT2.
CleanExiHS_CACNG6.
ExpressionAtlasiQ9BXT2. baseline and differential.
GenevisibleiQ9BXT2. HS.

Family and domain databases

InterProiIPR004031. PMP22/EMP/MP20/Claudin.
IPR008370. VDCC_g6su.
IPR008368. VDCC_gsu.
[Graphical view]
PfamiPF13903. Claudin_2. 1 hit.
[Graphical view]
PRINTSiPR01792. VDCCGAMMA.
PR01794. VDCCGAMMA6.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A cluster of three novel Ca(2+) channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family."
    Burgess D.L., Gefrides L.A., Foreman P.J., Noebels J.L.
    Genomics 71:339-350(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Calcium channel gamma subunits provide insights into the evolution of this gene family."
    Chu P.-J., Robertson H.M., Best P.M.
    Gene 280:37-48(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye.

Entry informationi

Entry nameiCCG6_HUMAN
AccessioniPrimary (citable) accession number: Q9BXT2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: June 1, 2001
Last modified: July 6, 2016
This is version 115 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.