LOCUS       NM_001412134            2607 bp    mRNA    linear   PRI 13-JUN-2024
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit gamma
            7 (CACNG7), transcript variant 3, mRNA.
ACCESSION   NM_001412134
VERSION     NM_001412134.1
KEYWORDS    RefSeq.
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 2607)
  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 2607)
  AUTHORS   Yang,L., Katchman,A., Morrow,J.P., Doshi,D. and Marx,S.O.
  TITLE     Cardiac L-type calcium channel (Cav1.2) associates with gamma
            subunits
  JOURNAL   FASEB J 25 (3), 928-936 (2011)
   PUBMED   21127204
REFERENCE   3  (bases 1 to 2607)
  AUTHORS   Kato,A.S., Gill,M.B., Ho,M.T., Yu,H., Tu,Y., Siuda,E.R., Wang,H.,
            Qian,Y.W., Nisenbaum,E.S., Tomita,S. and Bredt,D.S.
  TITLE     Hippocampal AMPA receptor gating controlled by both TARP and
            cornichon proteins
  JOURNAL   Neuron 68 (6), 1082-1096 (2010)
   PUBMED   21172611
REFERENCE   4  (bases 1 to 2607)
  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 2607)
  AUTHORS   Moss,F.J., Viard,P., Davies,A., Bertaso,F., Page,K.M., Graham,A.,
            Canti,C., Plumpton,M., Plumpton,C., Clare,J.J. and Dolphin,A.C.
  TITLE     The novel product of a five-exon stargazin-related gene abolishes
            Ca(V)2.2 calcium channel expression
  JOURNAL   EMBO J 21 (7), 1514-1523 (2002)
   PUBMED   11927536
REFERENCE   6  (bases 1 to 2607)
  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   7  (bases 1 to 2607)
  AUTHORS   Burgess,D.L., Gefrides,L.A., Foreman,P.J. and Noebels,J.L.
  TITLE     A cluster of three novel Ca2+ channel gamma subunit genes on
            chromosome 19q13.4: evolution and expression profile of the gamma
            subunit gene family
  JOURNAL   Genomics 71 (3), 339-350 (2001)
   PUBMED   11170751
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CP068259.2.
            
            Summary: The protein encoded by this gene is a type II
            transmembrane AMPA receptor regulatory protein (TARP). TARPs
            regulate both trafficking and channel gating of the AMPA receptors.
            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, a type I TARP and a calcium channel gamma
            subunit. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (3) uses the same exon combination
            as variant 2 but represents the allele encoded by the T2T-CHM13v2.0
            genome assembly. The encoded isoform (3) has a frameshifted
            C-terminus compared to isoform 2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.731164.1,
                                           ERR4352442.554364.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-240               CP068259.2         56988984-56989223
            241-465             CP068259.2         56992509-56992733
            466-552             CP068259.2         56994206-56994292
            553-693             CP068259.2         56995071-56995211
            694-2607            CP068259.2         57020529-57022442
FEATURES             Location/Qualifiers
     source          1..2607
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2607
                     /gene="CACNG7"
                     /note="calcium voltage-gated channel auxiliary subunit
                     gamma 7"
                     /db_xref="GeneID:59284"
                     /db_xref="HGNC:HGNC:13626"
                     /db_xref="MIM:606899"
     exon            1..240
                     /gene="CACNG7"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    51..53
                     /gene="CACNG7"
                     /note="upstream in-frame stop codon"
     exon            241..465
                     /gene="CACNG7"
                     /inference="alignment:Splign:2.1.0"
     CDS             270..1079
                     /gene="CACNG7"
                     /note="isoform 3 is encoded by transcript variant 3;
                     neuronal voltage-gated calcium channel gamma-7 subunit;
                     voltage-dependent calcium channel gamma-7 subunit; TARP
                     gamma-7; transmembrane AMPAR regulatory protein gamma-7;
                     calcium channel, voltage-dependent, gamma subunit 7"
                     /codon_start=1
                     /product="voltage-dependent calcium channel gamma-7
                     subunit isoform 3"
                     /protein_id="NP_001399063.1"
                     /db_xref="GeneID:59284"
                     /db_xref="HGNC:HGNC:13626"
                     /db_xref="MIM:606899"
                     /translation="

MSHCSSRALTLLSSVFGACGLLLVGIAVSTDYWLYMEEGTVLPQNQTTEVKMALHAGLWRVCFFAGREKGRCVASEYFLEPEINLVTENTENILKTVRTATPFPMVSLFLVFTAFVISNIGHIRPQRTILAFVSGIFFILSGGRRDVRVPVHQALRGGGDVPSTPGLLPPASQRLLRLLGPVPAARGVAPRPEPLRHLQRRVHPNDAELPSRHQVPGPPAHLHLALLRPAPRSSPCLLLLLVLGGLPAMQRPLPSSGLLAPTRRRLRQL"

     misc_feature    291..353
                     /gene="CACNG7"
                     /note="propagated from UniProtKB/Swiss-Prot (P62955.1);
                     transmembrane region"
     misc_feature    321..>698
                     /gene="CACNG7"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; cl21598"
                     /db_xref="CDD:473919"
     misc_feature    576..638
                     /gene="CACNG7"
                     /note="propagated from UniProtKB/Swiss-Prot (P62955.1);
                     transmembrane region"
     exon            466..552
                     /gene="CACNG7"
                     /inference="alignment:Splign:2.1.0"
     exon            553..693
                     /gene="CACNG7"
                     /inference="alignment:Splign:2.1.0"
     exon            694..2607
                     /gene="CACNG7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2353..2358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG7"
                     /note="hexamer: AATAAA"
     polyA_site      2374
                     /gene="CACNG7"
                     /note="major polyA site"
     regulatory      2578..2583
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG7"
                     /note="hexamer: AATAAA"
     polyA_site      2607
                     /gene="CACNG7"
ORIGIN      

agtagccaatgagcggccgccggttcctgctcccggctccgtccgccgagtgaggccgcggccgcggggggtggggggtgggaggccgggagggggccgggacgccgggctccggggcgggggcggggggcgcgggcaccggcgaccccggtggcggcggcggcggccgggggaagcctcggggccggtcatgcggctgcggggcccgcggcccggagcgtccgcccagccctgagcgaggccccgcagggcgccccctgcctctgaggatgagtcactgcagcagccgcgccctgaccctgctgagcagcgtgtttggtgcgtgtggcctgctcctggtaggcatcgcggtcagcactgactactggctgtacatggaagaaggcacagtgctaccgcagaaccagaccaccgaggtcaagatggccctgcacgccggcctctggcgagtctgcttctttgcaggtcgggagaaaggtcgctgtgtggcctcagaatattttcttgaaccggagatcaatttggtgacggaaaacacggagaatattctgaagacagtgcgcacggccacccccttccccatggtcagcctcttcctcgtgttcacggccttcgtcatcagcaacatcggccacatccgcccgcagaggaccattctggcttttgtctctggcatcttcttcatactatcggggggccggcgtgatgtccgtgtacctgttcaccaagcgctacgcggaggaggagatgtaccgtccacacccggccttctaccgcccgcgtctcagcgactgctccgactactcgggccagttcctgcagcccgaggcgtggcgccgcggccggagcccctccgacatctccagcgacgtgtccatccaaatgacgcagaactaccctcccgccatcaagtacccggaccacctgcacatctccacctcgccctgctgaggcccgcccctcggagctccccctgcctcctcctcctcctcgtcttagggggtctccctgcaatgcagcgcccccttccgtcctcgggactcctcgctcccacccggaggaggctgcgccagctttaggccccgccctcctcccaatggctccgcccacagactcccttatttcaatggccgcgccctcttttcccgacctctccttttcattggtccctctcactcccaaatgactcctccccttcgttggcccgcccctttcctctggcccctcctctccaagaaaattagctcctccctcgttctccacctgctctgagctgggagcagccagaggcggtgcaagcgcccagctccccagagctccccaacctcggacctcaccgcaggggcgctgggctggagagcaggttcgggcagccgtcgggaataccgaccatcctcttctcccttctaacctgggcttcctttttccctgcctaatctcacctcctgacctgctgggtcctccggtgcagtgggagggccggcttgctccacccgcagccccggggtggcgtagggaagggggctggaagccacgggtacggttaacctggcccttccctccccatctcccctacttccctggaaggtcccattctttctcaccggctgggctcttttctgcttcctgaaggttacctgccttttagggggctcttgtctaaaggatcttcttgctttctcagctatccttggcttctttttcgtcttcctcctcctttaactctttctctcctttcctcccttcacccgttcgtcccaagcccttgggtgcatcccgccctaggcgcacaccagacggccagaatggggaccctagggtggagggaattcccccacgccatctccgcacctgtgcccgcctctcccccctcgaggccccgtcgagggagggaggggcagtagcgggggtcgacaccccccccaaacctctaagtcttccattttctggctctcctcctcattgacgtccctcttcccccctcagaaccccaactctggcctctttcaagggcccgtccgccccgttggacagattttggggggagaggaggtcaccaggaactcgcccacccccccttattagggaaagaggggcgaggtagcacagtgctgtacacggaaccagaatggcccccggggtggggggaggggggcaggggagggacgggggcttttagtttgcatcttaggtgggaggggggaggggggacccgccgcagttaacctgactttacgcagcgatttttaacgaggctggggggaggggggcactggggtggggacagggtggggtggggggcctggctctgttatttaccgtgtatcatatgtaaatatcgacagaaacttcaataaactttatttcaaacacgtctccgcctgcccggagggaagggattggatagagggggcttagtctgggtctctgcttctagggttgcaggcctaaagtactgcagaatgacgttagatgggtcgttgttaaatgacttaatcatcatcattatcaacggcagcgctttatacttcagtccgtgtaaagcatgcaggaccgtaaatgatactggtcaggatcaataaacgctttctcctggtattattatga

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