CCG6_HUMAN
ID CCG6_HUMAN Reviewed; 260 AA.
AC Q9BXT2;
DT 10-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Voltage-dependent calcium channel gamma-6 subunit;
DE AltName: Full=Neuronal voltage-gated calcium channel gamma-6 subunit;
GN Name=CACNG6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=11170751; DOI=10.1006/geno.2000.6440;
RA Burgess D.L., Gefrides L.A., Foreman P.J., Noebels J.L.;
RT "A cluster of three novel Ca(2+) channel gamma subunit genes on chromosome
RT 19q13.4: evolution and expression profile of the gamma subunit gene
RT family.";
RL Genomics 71:339-350(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=11738816; DOI=10.1016/s0378-1119(01)00738-7;
RA Chu P.-J., Robertson H.M., Best P.M.;
RT "Calcium channel gamma subunits provide insights into the evolution of this
RT gene family.";
RL Gene 280:37-48(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=21127204; DOI=10.1096/fj.10-172353;
RA Yang L., Katchman A., Morrow J.P., Doshi D., Marx S.O.;
RT "Cardiac L-type calcium channel (Cav1.2) associates with gamma subunits.";
RL FASEB J. 25:928-936(2011).
CC -!- FUNCTION: Regulates the activity of L-type calcium channels that
CC contain CACNA1C as pore-forming subunit. {ECO:0000269|PubMed:21127204}.
CC -!- SUBUNIT: Interacts with CACNA1C. Identified in a complex with the L-
CC type calcium channel subunits CACNA1C, CACNA2D1 and either CACNB1 or
CC CACNB2. {ECO:0000269|PubMed:21127204}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:21127204};
CC Multi-pass membrane protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Detected in heart left ventricle.
CC {ECO:0000269|PubMed:21127204}.
CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
CC {ECO:0000305}.
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DR EMBL; AF288386; AAK20029.1; -; mRNA.
DR EMBL; AF361352; AAL50047.1; -; mRNA.
DR EMBL; BC021552; AAH21552.1; -; mRNA.
DR CCDS; CCDS12870.1; -.
DR RefSeq; NP_114103.2; NM_031897.2.
DR RefSeq; NP_665813.1; NM_145814.1.
DR RefSeq; NP_665814.1; NM_145815.1.
DR AlphaFoldDB; Q9BXT2; -.
DR SMR; Q9BXT2; -.
DR BioGRID; 121871; 97.
DR IntAct; Q9BXT2; 2.
DR STRING; 9606.ENSP00000252729; -.
DR ChEMBL; CHEMBL2363032; -.
DR DrugBank; DB13746; Bioallethrin.
DR DrugBank; DB11148; Butamben.
DR DrugBank; DB00228; Enflurane.
DR DrugBank; DB00153; Ergocalciferol.
DR DrugBank; DB00421; Spironolactone.
DR TCDB; 8.A.16.1.2; the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.
DR iPTMnet; Q9BXT2; -.
DR PhosphoSitePlus; Q9BXT2; -.
DR BioMuta; CACNG6; -.
DR DMDM; 20532019; -.
DR EPD; Q9BXT2; -.
DR MassIVE; Q9BXT2; -.
DR PaxDb; Q9BXT2; -.
DR PeptideAtlas; Q9BXT2; -.
DR PRIDE; Q9BXT2; -.
DR ProteomicsDB; 79502; -.
DR Antibodypedia; 32772; 120 antibodies from 19 providers.
DR DNASU; 59285; -.
DR Ensembl; ENST00000252729.7; ENSP00000252729.2; ENSG00000130433.8.
DR GeneID; 59285; -.
DR KEGG; hsa:59285; -.
DR MANE-Select; ENST00000252729.7; ENSP00000252729.2; NM_145814.2; NP_665813.1.
DR UCSC; uc002qct.4; human.
DR CTD; 59285; -.
DR DisGeNET; 59285; -.
DR GeneCards; CACNG6; -.
DR HGNC; HGNC:13625; CACNG6.
DR HPA; ENSG00000130433; Group enriched (skeletal muscle, tongue).
DR MIM; 606898; gene.
DR neXtProt; NX_Q9BXT2; -.
DR OpenTargets; ENSG00000130433; -.
DR PharmGKB; PA26020; -.
DR VEuPathDB; HostDB:ENSG00000130433; -.
DR eggNOG; ENOG502QUPR; Eukaryota.
DR GeneTree; ENSGT00390000007786; -.
DR InParanoid; Q9BXT2; -.
DR OMA; KTLWVAD; -.
DR OrthoDB; 1226225at2759; -.
DR PhylomeDB; Q9BXT2; -.
DR TreeFam; TF331651; -.
DR PathwayCommons; Q9BXT2; -.
DR Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
DR Reactome; R-HSA-5576893; Phase 2 - plateau phase.
DR SignaLink; Q9BXT2; -.
DR BioGRID-ORCS; 59285; 21 hits in 1061 CRISPR screens.
DR ChiTaRS; CACNG6; human.
DR GenomeRNAi; 59285; -.
DR Pharos; Q9BXT2; Tdark.
DR PRO; PR:Q9BXT2; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BXT2; protein.
DR Bgee; ENSG00000130433; Expressed in hindlimb stylopod muscle and 95 other tissues.
DR ExpressionAtlas; Q9BXT2; baseline and differential.
DR Genevisible; Q9BXT2; HS.
DR GO; GO:1990454; C:L-type voltage-gated calcium channel complex; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0005891; C:voltage-gated calcium channel complex; NAS:UniProtKB.
DR GO; GO:0005246; F:calcium channel regulator activity; IDA:UniProtKB.
DR GO; GO:0005245; F:voltage-gated calcium channel activity; NAS:UniProtKB.
DR GO; GO:0006816; P:calcium ion transport; NAS:UniProtKB.
DR GO; GO:1902514; P:regulation of calcium ion transmembrane transport via high voltage-gated calcium channel; IBA:GO_Central.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR InterPro; IPR008370; VDCC_g6su.
DR InterPro; IPR008368; VDCC_gsu.
DR Pfam; PF13903; Claudin_2; 1.
DR PRINTS; PR01792; VDCCGAMMA.
DR PRINTS; PR01794; VDCCGAMMA6.
PE 1: Evidence at protein level;
KW Calcium; Calcium channel; Calcium transport; Cell membrane; Ion channel;
KW Ion transport; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport; Voltage-gated channel.
FT CHAIN 1..260
FT /note="Voltage-dependent calcium channel gamma-6 subunit"
FT /id="PRO_0000164684"
FT TRANSMEM 43..63
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 143..163
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 169..189
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 221..241
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 14..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 252
FT /note="C -> S (in dbSNP:rs12980121)"
FT /id="VAR_061540"
SQ SEQUENCE 260 AA; 28129 MW; 674433E331FD9974 CRC64;
MMWSNFFLQE ENRRRGAAGR RRAHGQGRSG LTPEREGKVK LALLLAAVGA TLAVLSVGTE
FWVELNTYKA NGSAVCEAAH LGLWKACTKR LWQADVPVDR DTCGPAELPG EANCTYFKFF
TTGENARIFQ RTTKKEVNLA AAVIAVLGLA VMALGCLCII MVLSKGAEFL LRVGAVCFGL
SGLLLLVSLE VFRHSVRALL QRVSPEPPPA PRLTYEYSWS LGCGVGAGLI LLLGAGCFLL
LTLPSWPWGS LCPKRGHRAT
