LOCUS       NM_000727               1302 bp    mRNA    linear   PRI 03-MAY-2024
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit gamma
            1 (CACNG1), mRNA.
ACCESSION   NM_000727
VERSION     NM_000727.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1302)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1302)
  AUTHORS   Dolphin,A.C.
  TITLE     Voltage-gated calcium channels and their auxiliary subunits:
            physiology and pathophysiology and pharmacology
  JOURNAL   J Physiol 594 (19), 5369-5390 (2016)
   PUBMED   27273705
  REMARK    Review article
REFERENCE   3  (bases 1 to 1302)
  AUTHORS   Bannister,R.A. and Beam,K.G.
  TITLE     Ca(V)1.1: The atypical prototypical voltage-gated Ca(2) channel
  JOURNAL   Biochim Biophys Acta 1828 (7), 1587-1597 (2013)
   PUBMED   22982493
  REMARK    Review article
REFERENCE   4  (bases 1 to 1302)
  AUTHORS   Chen,R.S., Deng,T.C., Garcia,T., Sellers,Z.M. and Best,P.M.
  TITLE     Calcium channel gamma subunits: a functionally diverse protein
            family
  JOURNAL   Cell Biochem Biophys 47 (2), 178-186 (2007)
   PUBMED   17652770
  REMARK    Review article
REFERENCE   5  (bases 1 to 1302)
  AUTHORS   Chu,P.J., Robertson,H.M. and Best,P.M.
  TITLE     Calcium channel gamma subunits provide insights into the evolution
            of this gene family
  JOURNAL   Gene 280 (1-2), 37-48 (2001)
   PUBMED   11738816
REFERENCE   6  (bases 1 to 1302)
  AUTHORS   Burgess,D.L., Davis,C.F., Gefrides,L.A. and Noebels,J.L.
  TITLE     Identification of three novel Ca(2+) channel gamma subunit genes
            reveals molecular diversification by tandem and chromosome
            duplication
  JOURNAL   Genome Res 9 (12), 1204-1213 (1999)
   PUBMED   10613843
REFERENCE   7  (bases 1 to 1302)
  AUTHORS   Wagner,T., Tommerup,N., Wirth,J., Leffers,H., Zimmer,J., Back,E.,
            Weissenbach,J. and Scherer,G.
  TITLE     A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3
  JOURNAL   Cytogenet Cell Genet 76 (3-4), 172-175 (1997)
   PUBMED   9186513
REFERENCE   8  (bases 1 to 1302)
  AUTHORS   Olckers,A., Jedlicka,A.E., Powers,P.A., Hogan,K., Gregg,R.G. and
            Levitt,R.C.
  TITLE     G to A polymorphism in the CACNLG gene
  JOURNAL   Hum Mol Genet 2 (12), 2198 (1993)
   PUBMED   8111396
REFERENCE   9  (bases 1 to 1302)
  AUTHORS   Powers,P.A., Liu,S., Hogan,K. and Gregg,R.G.
  TITLE     Molecular characterization of the gene encoding the gamma subunit
            of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+
            channel (CACNLG), cDNA sequence, gene structure, and chromosomal
            location
  JOURNAL   J Biol Chem 268 (13), 9275-9279 (1993)
   PUBMED   8387489
REFERENCE   10 (bases 1 to 1302)
  AUTHORS   Iles,D.E., Segers,B., Weghuis,D.O., Suikerbuijk,R. and Wieringa,B.
  TITLE     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
  JOURNAL   Cytogenet Cell Genet 64 (3-4), 227-230 (1993)
   PUBMED   8404045
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA898357.1, BC113486.1,
            AF086300.1 and AC005544.1.
            
            On Nov 22, 2018 this sequence version replaced NM_000727.3.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.187776.1, L07738.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153427, SAMEA2158800
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000226021.5/ ENSP00000226021.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                DA898357.1         19-65
            48-834              BC113486.1         1-787
            835-993             AF086300.1         257-415
            994-994             AC005544.1         85160-85160         c
            995-1302            AF086300.1         417-724
FEATURES             Location/Qualifiers
     source          1..1302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     gene            1..1302
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="calcium voltage-gated channel auxiliary subunit
                     gamma 1"
                     /db_xref="GeneID:786"
                     /db_xref="HGNC:HGNC:1405"
                     /db_xref="MIM:114209"
     exon            1..336
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..776
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="neuronal dihydropyridine-sensitive calcium channel
                     gamma subunit; L-type calcium channel gamma polypeptide;
                     dihydropyridine-sensitive L-type, skeletal muscle calcium
                     channel subunit gamma; calcium channel, voltage-dependent,
                     gamma subunit 1"
                     /codon_start=1
                     /product="voltage-dependent calcium channel gamma-1
                     subunit"
                     /protein_id="NP_000718.1"
                     /db_xref="CCDS:CCDS11668.1"
                     /db_xref="GeneID:786"
                     /db_xref="HGNC:HGNC:1405"
                     /db_xref="MIM:114209"
                     /translation="MSQTKMLKVRVTLFCILAGIVLAMTAVVTDHWAVLSPHMEHHNT
                     TCEAAHFGLWRICTKRIPMDDSKTCGPITLPGEKNCSYFRHFNPGESSEIFEFTTQKE
                     YSISAAAIAIFSLGFIILGSLCVLLSLGKKRDYLLRPASMFYAFAGLCILVSVEVMRQ
                     SVKRMIDSEDTVWIEYYYSWSFACACAAFILLFLGGLALLLFSLPRMPRNPWESCMDA
                     EPEH"
     exon            337..411
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /inference="alignment:Splign:2.1.0"
     exon            412..549
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /inference="alignment:Splign:2.1.0"
     exon            550..1302
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1283..1288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="hexamer: AATAAA"
     polyA_site      1302
                     /gene="CACNG1"
                     /gene_synonym="CACNLG"
                     /note="major polyA site"
ORIGIN      
        1 actcccagct cgacaaccac tgccaccccc caagctcggc ttgtcacctg ccctaggaga
       61 cgcagccgcc ggaccctgcc cagggcaccc acgcctcggc gaccaccatg tcccagacca
      121 aaatgctgaa ggtccgcgtg accctcttct gcatcctggc aggcatcgtg ctggccatga
      181 cagccgtggt aaccgaccac tgggctgtgc tgagccccca catggagcac cacaacacta
      241 cctgcgaggc ggcccacttc ggcctctggc ggatttgtac caagcgcatc cccatggacg
      301 acagcaagac ctgcgggccc atcaccctgc ccggggagaa gaactgttcc tacttcaggc
      361 attttaaccc cggcgagagc tcggagatct tcgaattcac cactcagaag gagtacagca
      421 tctcggcagc cgccatcgcc atcttcagcc ttggcttcat catcctgggc agcctctgtg
      481 tcctcctgtc cctcgggaag aagagggact atctgctgcg acccgcgtcc atgttctatg
      541 cctttgcagg tctctgcatc ctcgtctcgg tggaggtcat gcggcagtcg gtgaagcgca
      601 tgattgacag tgaggacacc gtctggatcg agtactatta ctcctggtcc tttgcctgcg
      661 cctgtgccgc cttcatcctc ctctttctcg gcggtctcgc cctcctgctg ttctccctgc
      721 ctcgaatgcc ccggaaccca tgggagtcct gcatggatgc tgagcccgag cactaaccct
      781 cctgcggccc tagcgaccct caggcttctt ccccaggaag cggggtcttg gcctggaacc
      841 ttccagagag gaggcgggag caattttagc cccaccctgc tcccatctgc ccccctgcaa
      901 cagtcgcagg ctgcttcctc tctctgagtt cctctgggct gccgcaggct cccctgggaa
      961 tagagcaaga cgtgagtcct aacctggcca cagttggggg aggcagagcc agcaggtgga
     1021 caggtgtttg caggggccca acttcccctg gagctcagag gtgtccccac tgtaccagcc
     1081 tctgataagc tgcctccagt tgtcctttat gaacattgca gggacaacct gtgtttgcca
     1141 gctgggtgtt ccgtgtaaat agccagcctg tctctttctc ggtgataaaa cacaccctct
     1201 ctggtgagcc cagcgtcccc tccttggctt ccaggagccc tgggaagcat ttttaactgg
     1261 gtagaatctg actgtggctt gaaataaaaa gctctcagaa aa
//
