CCG1_HUMAN
ID CCG1_HUMAN Reviewed; 222 AA.
AC Q06432; B2R9N3; Q14D59;
DT 01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1995, sequence version 1.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Voltage-dependent calcium channel gamma-1 subunit;
DE AltName: Full=Dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma;
GN Name=CACNG1;
GN Synonyms=CACNLG {ECO:0000303|PubMed:8387489, ECO:0000303|PubMed:8404045};
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], AND TISSUE SPECIFICITY.
RC TISSUE=Fetal skeletal muscle;
RX PubMed=8387489; DOI=10.1016/s0021-9258(18)98346-8;
RA Powers P.A., Liu S., Hogan K., Gregg R.G.;
RT "Molecular characterization of the gene encoding the gamma subunit of the
RT human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG),
RT cDNA sequence, gene structure, and chromosomal location.";
RL J. Biol. Chem. 268:9275-9279(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 102-147 AND 174-222.
RX PubMed=8404045; DOI=10.1159/000133583;
RA Iles D.E., Segers B., Weghuis D.O., Suikerbuijk R., Wieringa B.;
RT "Localization of the gamma-subunit of the skeletal muscle L-type voltage-
RT dependent calcium channel gene (CACNLG) to human chromosome band 17q24 by
RT in situ hybridization and identification of a polymorphic repetitive DNA
RT sequence at the gene locus.";
RL Cytogenet. Cell Genet. 64:227-230(1993).
CC -!- FUNCTION: Regulatory subunit of the voltage-gated calcium channel that
CC gives rise to L-type calcium currents in skeletal muscle. Regulates
CC channel inactivation kinetics. {ECO:0000250|UniProtKB:P19518}.
CC -!- SUBUNIT: Component of a calcium channel complex consisting of a pore-
CC forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or
CC CACNB2, CACNG1 and CACNA2D1. The channel complex contains alpha, beta,
CC gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains either
CC CACNB1 or CACNB2. {ECO:0000250|UniProtKB:P19518}.
CC -!- INTERACTION:
CC Q06432; Q13323: BIK; NbExp=3; IntAct=EBI-9686780, EBI-700794;
CC Q06432; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-9686780, EBI-18013275;
CC Q06432; P60508: ERVFRD-1; NbExp=3; IntAct=EBI-9686780, EBI-17973325;
CC Q06432; O15552: FFAR2; NbExp=3; IntAct=EBI-9686780, EBI-2833872;
CC Q06432; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-9686780, EBI-12142257;
CC Q06432; Q05329: GAD2; NbExp=3; IntAct=EBI-9686780, EBI-9304251;
CC Q06432; Q8TED1: GPX8; NbExp=3; IntAct=EBI-9686780, EBI-11721746;
CC Q06432; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-9686780, EBI-18053395;
CC Q06432; O14880: MGST3; NbExp=3; IntAct=EBI-9686780, EBI-724754;
CC Q06432; P15941-11: MUC1; NbExp=3; IntAct=EBI-9686780, EBI-17263240;
CC Q06432; Q2M2E3: ODF4; NbExp=3; IntAct=EBI-9686780, EBI-12382569;
CC Q06432; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-9686780, EBI-7545592;
CC Q06432; Q8WY91: THAP4; NbExp=3; IntAct=EBI-9686780, EBI-726691;
CC Q06432; Q96MV1: TLCD4; NbExp=3; IntAct=EBI-9686780, EBI-12947623;
CC Q06432; Q96B21: TMEM45B; NbExp=3; IntAct=EBI-9686780, EBI-3923061;
CC Q06432; Q9P0L0: VAPA; NbExp=3; IntAct=EBI-9686780, EBI-1059156;
CC Q06432; A8KA83; NbExp=3; IntAct=EBI-9686780, EBI-10174961;
CC -!- SUBCELLULAR LOCATION: Cell membrane, sarcolemma
CC {ECO:0000250|UniProtKB:P19518}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:P19518}.
CC -!- TISSUE SPECIFICITY: Skeletal muscle. {ECO:0000269|PubMed:8387489}.
CC -!- PTM: N-glycosylated. {ECO:0000250|UniProtKB:P19518}.
CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
CC {ECO:0000305}.
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DR EMBL; L07738; AAA51904.1; -; mRNA.
DR EMBL; AK313852; BAG36580.1; -; mRNA.
DR EMBL; CH471099; EAW89022.1; -; Genomic_DNA.
DR EMBL; BC069493; AAH69493.1; -; mRNA.
DR EMBL; BC113486; AAI13487.1; -; mRNA.
DR EMBL; BC113492; AAI13493.1; -; mRNA.
DR EMBL; Z19603; CAA79671.1; -; Genomic_DNA.
DR EMBL; Z19587; CAB62573.1; ALT_SEQ; Genomic_DNA.
DR CCDS; CCDS11668.1; -.
DR PIR; A46658; A46658.
DR RefSeq; NP_000718.1; NM_000727.3.
DR AlphaFoldDB; Q06432; -.
DR SMR; Q06432; -.
DR BioGRID; 107240; 110.
DR ComplexPortal; CPX-3192; Skeletal muscle VGCC complex.
DR IntAct; Q06432; 17.
DR STRING; 9606.ENSP00000226021; -.
DR BindingDB; Q06432; -.
DR ChEMBL; CHEMBL2363032; -.
DR DrugBank; DB13746; Bioallethrin.
DR DrugBank; DB11148; Butamben.
DR DrugBank; DB00343; Diltiazem.
DR DrugBank; DB00228; Enflurane.
DR DrugBank; DB00153; Ergocalciferol.
DR DrugBank; DB00898; Ethanol.
DR DrugBank; DB04842; Fluspirilene.
DR DrugBank; DB00308; Ibutilide.
DR DrugBank; DB00528; Lercanidipine.
DR DrugBank; DB00421; Spironolactone.
DR DrugCentral; Q06432; -.
DR TCDB; 8.A.16.1.1; the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.
DR GlyGen; Q06432; 2 sites.
DR iPTMnet; Q06432; -.
DR PhosphoSitePlus; Q06432; -.
DR BioMuta; CACNG1; -.
DR DMDM; 1168946; -.
DR MassIVE; Q06432; -.
DR PaxDb; Q06432; -.
DR PeptideAtlas; Q06432; -.
DR PRIDE; Q06432; -.
DR ProteomicsDB; 58446; -.
DR Antibodypedia; 19201; 188 antibodies from 27 providers.
DR DNASU; 786; -.
DR Ensembl; ENST00000226021.5; ENSP00000226021.3; ENSG00000108878.5.
DR GeneID; 786; -.
DR KEGG; hsa:786; -.
DR MANE-Select; ENST00000226021.5; ENSP00000226021.3; NM_000727.4; NP_000718.1.
DR UCSC; uc002jfu.4; human.
DR CTD; 786; -.
DR DisGeNET; 786; -.
DR GeneCards; CACNG1; -.
DR HGNC; HGNC:1405; CACNG1.
DR HPA; ENSG00000108878; Group enriched (skeletal muscle, tongue).
DR MIM; 114209; gene.
DR neXtProt; NX_Q06432; -.
DR OpenTargets; ENSG00000108878; -.
DR PharmGKB; PA26015; -.
DR VEuPathDB; HostDB:ENSG00000108878; -.
DR eggNOG; ENOG502QT5N; Eukaryota.
DR GeneTree; ENSGT00390000007786; -.
DR HOGENOM; CLU_093876_0_0_1; -.
DR InParanoid; Q06432; -.
DR OMA; WIEYYYG; -.
DR OrthoDB; 1261253at2759; -.
DR PhylomeDB; Q06432; -.
DR TreeFam; TF331651; -.
DR PathwayCommons; Q06432; -.
DR SignaLink; Q06432; -.
DR BioGRID-ORCS; 786; 23 hits in 1068 CRISPR screens.
DR GeneWiki; CACNG1; -.
DR GenomeRNAi; 786; -.
DR Pharos; Q06432; Tbio.
DR PRO; PR:Q06432; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q06432; protein.
DR Bgee; ENSG00000108878; Expressed in gastrocnemius and 100 other tissues.
DR Genevisible; Q06432; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; ISS:UniProtKB.
DR GO; GO:1990454; C:L-type voltage-gated calcium channel complex; ISS:UniProtKB.
DR GO; GO:0042383; C:sarcolemma; ISS:UniProtKB.
DR GO; GO:0030315; C:T-tubule; ISS:UniProtKB.
DR GO; GO:0005246; F:calcium channel regulator activity; ISS:UniProtKB.
DR GO; GO:0005245; F:voltage-gated calcium channel activity; IEA:Ensembl.
DR GO; GO:0070588; P:calcium ion transmembrane transport; IC:ComplexPortal.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0045933; P:positive regulation of muscle contraction; IC:ComplexPortal.
DR GO; GO:1902514; P:regulation of calcium ion transmembrane transport via high voltage-gated calcium channel; ISS:UniProtKB.
DR GO; GO:0070296; P:sarcoplasmic reticulum calcium ion transport; IEA:Ensembl.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR InterPro; IPR005421; VDCC_g1su.
DR InterPro; IPR008368; VDCC_gsu.
DR Pfam; PF13903; Claudin_2; 1.
DR PRINTS; PR01792; VDCCGAMMA.
DR PRINTS; PR01601; VDCCGAMMA1.
PE 1: Evidence at protein level;
KW Calcium; Calcium channel; Calcium transport; Cell membrane; Disulfide bond;
KW Glycoprotein; Ion channel; Ion transport; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport; Voltage-gated channel.
FT CHAIN 1..222
FT /note="Voltage-dependent calcium channel gamma-1 subunit"
FT /id="PRO_0000164669"
FT TOPO_DOM 1..10
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 11..29
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P19518"
FT TOPO_DOM 30..108
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 109..129
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P19518"
FT TOPO_DOM 130..134
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 135..155
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P19518"
FT TOPO_DOM 156..179
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 180..204
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P19518"
FT TOPO_DOM 205..222
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT CARBOHYD 43
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 79
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 57..80
FT /evidence="ECO:0000250|UniProtKB:P19518"
FT VARIANT 196
FT /note="G -> S (in dbSNP:rs1799938)"
FT /id="VAR_012063"
SQ SEQUENCE 222 AA; 25028 MW; EFEC34266CFC47CB CRC64;
MSQTKMLKVR VTLFCILAGI VLAMTAVVTD HWAVLSPHME HHNTTCEAAH FGLWRICTKR
IPMDDSKTCG PITLPGEKNC SYFRHFNPGE SSEIFEFTTQ KEYSISAAAI AIFSLGFIIL
GSLCVLLSLG KKRDYLLRPA SMFYAFAGLC ILVSVEVMRQ SVKRMIDSED TVWIEYYYSW
SFACACAAFI LLFLGGLALL LFSLPRMPRN PWESCMDAEP EH
