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 24-JAN-2024, entry version 175. 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, GN 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; DB09235; Efonidipine. 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; DB00622; Nicardipine. DR DrugBank; DB00421; Spironolactone. DR DrugBank; DB00661; Verapamil. DR DrugCentral; Q06432; -. DR TCDB; 8.A.16.1.1; the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family. DR GlyCosmos; Q06432; 2 sites, No reported glycans. DR GlyGen; Q06432; 2 sites. DR iPTMnet; Q06432; -. DR PhosphoSitePlus; Q06432; -. DR BioMuta; CACNG1; -. DR DMDM; 1168946; -. DR MassIVE; Q06432; -. DR PaxDb; 9606-ENSP00000226021; -. DR PeptideAtlas; Q06432; -. DR ProteomicsDB; 58446; -. DR Antibodypedia; 19201; 206 antibodies from 28 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 AGR; HGNC:1405; -. 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; FMQEQGP; -. DR OrthoDB; 4230292at2759; -. DR PhylomeDB; Q06432; -. DR TreeFam; TF331651; -. DR PathwayCommons; Q06432; -. DR SignaLink; Q06432; -. DR BioGRID-ORCS; 786; 25 hits in 1152 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 cell types or tissues. DR GO; GO:1990454; C:L-type voltage-gated calcium channel complex; ISS:UniProtKB. DR GO; GO:0005886; C:plasma membrane; 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; NAS:ComplexPortal. DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl. DR GO; GO:0045933; P:positive regulation of muscle contraction; NAS: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 Gene3D; 1.20.140.150; -; 1. DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin. DR InterPro; IPR005421; VDCC_g1su. DR InterPro; IPR008368; VDCC_gsu. DR PANTHER; PTHR15025:SF1; VOLTAGE-DEPENDENT CALCIUM CHANNEL GAMMA-1 SUBUNIT; 1. DR PANTHER; PTHR15025; VOLTAGE-DEPENDENT CALCIUM CHANNEL GAMMA-1 SUBUNIT-RELATED; 1. DR Pfam; PF13903; Claudin_2; 1. DR PRINTS; PR01792; VDCCGAMMA. DR PRINTS; PR01601; VDCCGAMMA1. DR Genevisible; Q06432; HS. 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 //