LOCUS       NM_000725               2931 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit beta 3
            (CACNB3), transcript variant 1, mRNA.
ACCESSION   NM_000725
VERSION     NM_000725.4
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 2931)
  AUTHORS   Chen,Z., Mondal,A., Abderemane-Ali,F., Jang,S., Niranjan,S.,
            Montano,J.L., Zaro,B.W. and Minor,D.L. Jr.
  TITLE     EMC chaperone-CaV structure reveals an ion channel assembly
            intermediate
  JOURNAL   Nature 619 (7969), 410-419 (2023)
   PUBMED   37196677
  REMARK    GeneRIF: EMC chaperone-CaV structure reveals an ion channel
            assembly intermediate.
REFERENCE   2  (bases 1 to 2931)
  AUTHORS   Hsu,Y.H., Pintacuda,G., Liu,R., Nacu,E., Kim,A., Tsafou,K.,
            Petrossian,N., Crotty,W., Suh,J.M., Riseman,J., Martin,J.M.,
            Biagini,J.C., Mena,D., Ching,J.K.T., Malolepsza,E., Li,T.,
            Singh,T., Ge,T., Egri,S.B., Tanenbaum,B., Stanclift,C.R.,
            Apffel,A.M., Carr,S.A., Schenone,M., Jaffe,J., Fornelos,N.,
            Huang,H., Eggan,K.C. and Lage,K.
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium;
            Stanley Global Asia Initiatives
  TITLE     Using brain cell-type-specific protein interactomes to interpret
            neurodevelopmental genetic signals in schizophrenia
  JOURNAL   iScience 26 (5), 106701 (2023)
   PUBMED   37207277
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2931)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2931)
  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   5  (bases 1 to 2931)
  AUTHORS   Bourdin,B., Shakeri,B., Tetreault,M.P., Sauve,R., Lesage,S. and
            Parent,L.
  TITLE     Functional characterization of CaValpha2delta mutations associated
            with sudden cardiac death
  JOURNAL   J Biol Chem 290 (5), 2854-2869 (2015)
   PUBMED   25527503
REFERENCE   6  (bases 1 to 2931)
  AUTHORS   Murakami,M., Wissenbach,U. and Flockerzi,V.
  TITLE     Gene structure of the murine calcium channel beta3 subunit, cDNA
            and characterization of alternative splicing and transcription
            products
  JOURNAL   Eur J Biochem 236 (1), 138-143 (1996)
   PUBMED   8617257
REFERENCE   7  (bases 1 to 2931)
  AUTHORS   Scott,V.E., De Waard,M., Liu,H., Gurnett,C.A., Venzke,D.P.,
            Lennon,V.A. and Campbell,K.P.
  TITLE     Beta subunit heterogeneity in N-type Ca2+ channels
  JOURNAL   J Biol Chem 271 (6), 3207-3212 (1996)
   PUBMED   8621722
REFERENCE   8  (bases 1 to 2931)
  AUTHORS   Yamada,Y., Masuda,K., Li,Q., Ihara,Y., Kubota,A., Miura,T.,
            Nakamura,K., Fujii,Y., Seino,S. and Seino,Y.
  TITLE     The structures of the human calcium channel alpha 1 subunit
            (CACNL1A2) and beta subunit (CACNLB3) genes
  JOURNAL   Genomics 27 (2), 312-319 (1995)
   PUBMED   7557998
REFERENCE   9  (bases 1 to 2931)
  AUTHORS   Collin,T., Lory,P., Taviaux,S., Courtieu,C., Guilbault,P., Berta,P.
            and Nargeot,J.
  TITLE     Cloning, chromosomal location and functional expression of the
            human voltage-dependent calcium-channel beta 3 subunit
  JOURNAL   Eur J Biochem 220 (1), 257-262 (1994)
   PUBMED   8119293
REFERENCE   10 (bases 1 to 2931)
  AUTHORS   Rosenfeld,M.R., Wong,E., Dalmau,J., Manley,G., Posner,J.B., Sher,E.
            and Furneaux,H.M.
  TITLE     Cloning and characterization of a Lambert-Eaton myasthenic syndrome
            antigen
  JOURNAL   Ann Neurol 33 (1), 113-120 (1993)
   PUBMED   8494331
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL534844.3, AK289709.1 and
            AC117498.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000725.3.
            
            Summary: This gene encodes a regulatory beta subunit of the
            voltage-dependent calcium channel. Beta subunits are composed of
            five domains, which contribute to the regulation of surface
            expression and gating of calcium channels and may also play a role
            in the regulation of transcription factors and calcium transport.
            [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.815854.1,
                                           SRR1803613.265143.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301050.7/ ENSP00000301050.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-308               AL534844.3         20-327
            309-2483            AK289709.1         1-2175
            2484-2931           AC117498.6         60752-61199         c
FEATURES             Location/Qualifiers
     source          1..2931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..2931
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="calcium voltage-gated channel auxiliary subunit
                     beta 3"
                     /db_xref="GeneID:784"
                     /db_xref="HGNC:HGNC:1403"
                     /db_xref="MIM:601958"
     exon            1..479
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     CDS             435..1889
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     voltage-dependent L-type calcium channel subunit beta-3;
                     calcium channel, voltage-dependent, beta 3 subunit"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-3 isoform 1"
                     /protein_id="NP_000716.2"
                     /db_xref="CCDS:CCDS8769.1"
                     /db_xref="GeneID:784"
                     /db_xref="HGNC:HGNC:1403"
                     /db_xref="MIM:601958"
                     /translation="MYDDSYVPGFEDSEAGSADSYTSRPSLDSDVSLEEDRESARREV
                     ESQAQQQLERAKHKPVAFAVRTNVSYCGVLDEECPVQGSGVNFEAKDFLHIKEKYSND
                     WWIGRLVKEGGDIAFIPSPQRLESIRLKQEQKARRSGNPSSLSDIGNRRSPPPSLAKQ
                     KQKQAEHVPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVT
                     ADLSLAKRSVLNNPGKRTIIERSSARSSIAEVQSEIERIFELAKSLQLVVLDADTINH
                     PAQLAKTSLAPIIVFVKVSSPKVLQRLIRSRGKSQMKHLTVQMMAYDKLVQCPPESFD
                     VILDENQLEDACEHLAEYLEVYWRATHHPAPGPGLLGPPSAIPGLQNQQLLGERGEEH
                     SPLERDSLMPSDEASESSRQAWTGSSQRSSRHLEEDYADAYQDLYQPHRQHTSGLPSA
                     NGHDPQDRLLAQDSEHNHSDRNWQRNRPWPKDSY"
     exon            480..602
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            603..725
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            726..841
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            842..906
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            907..926
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1007
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1066
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1176
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1328
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1424
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1574
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..2931
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2912..2917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="hexamer: AATAAA"
     polyA_site      2931
                     /gene="CACNB3"
                     /gene_synonym="CAB3; CACNLB3"
                     /note="major polyA site"
ORIGIN      
        1 ccccttcctc cccgccgcca cggccccgta ggtgctcggg gacccacctt ccacctagca
       61 cgggttcgtt cccctctccc ggcctggccc gggctccccg gtggccgccg ccccctcgcc
      121 gcccccgcct tctcccgggg agggggtcag gtgggcgggc actattgttg taggagccgg
      181 cgccagattc ctcagccgcg ctcggggtgg gaccggctgg gtttgggggg gtggggtggg
      241 gggagcggtg atctgagctc cgagcagctg gtcttcgcgg ctcgctccct ccttcgcgct
      301 ctctcgctcc ctgccgccgc ccgcagggct gcggggctcg gtggcatctc ccgggcgcgg
      361 cccgcagtcc ttgcccctgc ctccgggccg ctcccgcccc cggcgccgct cgctcccccg
      421 acccggactc ccccatgtat gacgactcct acgtgcccgg gtttgaggac tcggaggcgg
      481 gttcagccga ctcctacacc agccgcccat ctctggactc agacgtctcc ctggaggagg
      541 accgggagag tgcccggcgt gaagtagaga gccaggctca gcagcagctc gaaagggcca
      601 agcacaaacc tgtggcattt gcggtgagga ccaatgtcag ctactgtggc gtactggatg
      661 aggagtgccc agtccagggc tctggagtca actttgaggc caaagatttt ctgcacatta
      721 aagagaagta cagcaatgac tggtggatcg ggcggctagt gaaagagggc ggggacatcg
      781 ccttcatccc cagcccccag cgcctggaga gcatccggct caaacaggag cagaaggcca
      841 ggagatctgg gaacccttcc agcctgagtg acattggcaa ccgacgctcc cctccgccat
      901 ctctagccaa gcagaagcaa aagcaggcgg aacatgttcc cccatatgac gtggtgccct
      961 ccatgcggcc tgtggtgctg gtgggaccct ctctgaaagg ttatgaggtc acagacatga
     1021 tgcagaaggc tctcttcgac ttcctcaaac acagatttga tggcaggatc tccatcaccc
     1081 gagtcacagc cgacctctcc ctggcaaagc gatctgtgct caacaatccg ggcaagagga
     1141 ccatcattga gcgctcctct gcccgctcca gcattgcgga agtgcagagt gagatcgagc
     1201 gcatatttga gctggccaaa tccctgcagc tagtagtgtt ggacgctgac accatcaacc
     1261 acccagcaca gctggccaag acctcgctgg cccccatcat cgtctttgtc aaagtgtcct
     1321 caccaaaggt actccagcgt ctcattcgct cccgggggaa gtcacagatg aagcacctga
     1381 ccgtacagat gatggcatat gataagctgg ttcagtgccc accggagtca tttgatgtga
     1441 ttctggatga gaaccagctg gaggatgcct gtgagcacct ggctgagtac ctggaggttt
     1501 actggcgggc cacgcaccac ccagcccctg gccccggact tctgggtcct cccagtgcca
     1561 tccccggact tcagaaccag cagctgctgg gggagcgtgg cgaggagcac tccccccttg
     1621 agcgggacag cttgatgccc tctgatgagg ccagcgagag ctcccgccaa gcctggacag
     1681 gatcttcaca gcgtagctcc cgccacctgg aggaggacta tgcagatgcc taccaggacc
     1741 tgtaccagcc tcaccgccaa cacacctcgg ggctgcctag tgctaacggg catgaccccc
     1801 aagaccggct tctagcccag gactcagagc acaaccacag tgaccggaac tggcagcgca
     1861 accggccttg gcccaaggat agctactgac agcctcctgc tgccctaccc tggcaggcac
     1921 aggcgcagct ggctgggggg cccactccag gcagggtggc gttagactgg catcaggctg
     1981 gcactaggct cagcccccaa aaccccctgc ccagccccag cttcagggct gcctgtggtc
     2041 ccaaggttct gggagaaaca ggggaccccc tcacctcctg ggcagtgacc cctactaggc
     2101 tcccattcca ggtactagct gtgtgttctg cacccctggc accttcctct cctcccacac
     2161 aggaagctgc cccactgggc agtgccctca ggccaggatc cccttagcag ggtccttccc
     2221 accagactca gggaagggat gccccattaa agtgacaaaa gggtggggtg tgggcaccat
     2281 ggcatgagga agaaacaagg tccctgagca ggcacaagtc ctgacagtca agggactgct
     2341 ttggcatcca gggcctccag tcacctcact gccatacatt agaaatgaga caatcaaagc
     2401 ccccccaggg tggcacaccc atctgtttgc tggggtgtgg cagccacatc caagactgga
     2461 gcagcaggct ggccacgctc gggccagaga gagctcacag ctgaagctct tggagggaag
     2521 ggctctcctc accctgccag gaagcttctt aacatgtgac aggaccaggg accaggagca
     2581 tggtgaagcc aagtggcaga tgggagccaa cctggatggg ggtttgggga aggagggcat
     2641 gtgtagcaga gaacttaggg gggcctcctt gcctttctca ttcttttgcc ctgcatcctg
     2701 tcatttctgt tcttgtccct catacatctt tggagaaccg ggctccagac tttgttccct
     2761 gactcatagc tgccgcttgt taggttaggg ttagatgggg agagacaggg cacagaggac
     2821 ctgtctcccc ggctactctt gccttatggc tctagtgtgt gacctacaga gcatgctcca
     2881 caagcccctg cctcacctca ctgtcatcac taataaacat catgcacagt c
//
