LOCUS       NM_000723               3711 bp    mRNA    linear   PRI 03-MAY-2024
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit beta 1
            (CACNB1), transcript variant 1, mRNA.
ACCESSION   NM_000723
VERSION     NM_000723.5
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 3711)
  AUTHORS   Despang,P., Salamon,S., Breitenkamp,A., Kuzmenkina,E. and
            Matthes,J.
  TITLE     Inhibitory effects on L- and N-type calcium channels by a novel
            CaVbeta1 variant identified in a patient with autism spectrum
            disorder
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 395 (4), 459-470 (2022)
   PUBMED   35122502
REFERENCE   2  (bases 1 to 3711)
  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   3  (bases 1 to 3711)
  AUTHORS   Perez,C.F., Eltit,J.M., Lopez,J.R., Bodnar,D., Dulhunty,A.F.,
            Aditya,S. and Casarotto,M.G.
  TITLE     Functional and structural characterization of a novel malignant
            hyperthermia-susceptible variant of DHPR-beta1a subunit (CACNB1)
  JOURNAL   Am J Physiol Cell Physiol 314 (3), C323-C333 (2018)
   PUBMED   29212769
  REMARK    GeneRIF: Data show that mutant variant V156A results in instability
            of protein subdomains of beta1a subunit leading to a phenotype of
            Ca(2+) dysregulation that partly resembles that of other malignant
            hypertension-linked mutations of DHPR alpha1S subunit.
REFERENCE   4  (bases 1 to 3711)
  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   5  (bases 1 to 3711)
  AUTHORS   Mahalingam,M., Perez,C.F. and Fessenden,J.D.
  TITLE     Fluorescence Resonance Energy Transfer-based Structural Analysis of
            the Dihydropyridine Receptor alpha1S Subunit Reveals Conformational
            Differences Induced by Binding of the beta1a Subunit
  JOURNAL   J Biol Chem 291 (26), 13762-13770 (2016)
   PUBMED   27129199
  REMARK    GeneRIF: These results provide new insights into the role of
            muscle-specific proteins on the structural arrangement of alpha1S
            intracellular loops and point to a new conformational effect of the
            beta1a subunit in supporting skeletal muscle excitation-contraction
            coupling.
REFERENCE   6  (bases 1 to 3711)
  AUTHORS   Collin,T., Wang,J.J., Nargeot,J. and Schwartz,A.
  TITLE     Molecular cloning of three isoforms of the L-type voltage-dependent
            calcium channel beta subunit from normal human heart
  JOURNAL   Circ Res 72 (6), 1337-1344 (1993)
   PUBMED   7916667
REFERENCE   7  (bases 1 to 3711)
  AUTHORS   Powers,P.A., Liu,S., Hogan,K. and Gregg,R.G.
  TITLE     Skeletal muscle and brain isoforms of a beta-subunit of human
            voltage-dependent calcium channels are encoded by a single gene
  JOURNAL   J Biol Chem 267 (32), 22967-22972 (1992)
   PUBMED   1385409
REFERENCE   8  (bases 1 to 3711)
  AUTHORS   Perez-Reyes,E., Castellano,A., Kim,H.S., Bertrand,P., Baggstrom,E.,
            Lacerda,A.E., Wei,X.Y. and Birnbaumer,L.
  TITLE     Cloning and expression of a cardiac/brain beta subunit of the
            L-type calcium channel
  JOURNAL   J Biol Chem 267 (3), 1792-1797 (1992)
   PUBMED   1370480
REFERENCE   9  (bases 1 to 3711)
  AUTHORS   Williams,M.E., Feldman,D.H., McCue,A.F., Brenner,R., Velicelebi,G.,
            Ellis,S.B. and Harpold,M.M.
  TITLE     Structure and functional expression of alpha 1, alpha 2, and beta
            subunits of a novel human neuronal calcium channel subtype
  JOURNAL   Neuron 8 (1), 71-84 (1992)
   PUBMED   1309651
REFERENCE   10 (bases 1 to 3711)
  AUTHORS   Pragnell,M., Sakamoto,J., Jay,S.D. and Campbell,K.P.
  TITLE     Cloning and tissue-specific expression of the brain calcium channel
            beta-subunit
  JOURNAL   FEBS Lett 291 (2), 253-258 (1991)
   PUBMED   1657644
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK289729.1, BC037311.1 and
            AC004408.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000723.4.
            
            Summary: The protein encoded by this gene belongs to the calcium
            channel beta subunit family. It plays an important role in the
            calcium channel by modulating G protein inhibition, increasing peak
            calcium current, controlling the alpha-1 subunit membrane targeting
            and shifting the voltage dependence of activation and inactivation.
            Alternative splicing occurs at this locus and three transcript
            variants encoding three distinct isoforms have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1), also known as beta-1b2,
            betaA, and beta-1B, encodes the longest isoform (1).
            
            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 :: M92303.1, AK289729.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394303.8/ ENSP00000377840.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2105              AK289729.1         1-2105
            2106-2529           BC037311.1         2077-2500
            2530-2530           AC004408.2         73638-73638         c
            2531-3708           BC037311.1         2502-3679
            3709-3711           AC004408.2         72457-72459         c
FEATURES             Location/Qualifiers
     source          1..3711
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..3711
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="calcium voltage-gated channel auxiliary subunit
                     beta 1"
                     /db_xref="GeneID:782"
                     /db_xref="HGNC:HGNC:1401"
                     /db_xref="MIM:114207"
     exon            1..258
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             175..1971
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dihydropyridine-sensitive L-type, calcium channel beta-1
                     subunit; calcium channel, voltage-dependent, beta 1
                     subunit; calcium channel, L type, beta 1 polypeptide;
                     voltage-dependent L-type calcium channel subunit beta-1;
                     calcium channel voltage-dependent subunit beta 1"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     beta-1 isoform 1"
                     /protein_id="NP_000714.3"
                     /db_xref="CCDS:CCDS42311.1"
                     /db_xref="GeneID:782"
                     /db_xref="HGNC:HGNC:1401"
                     /db_xref="MIM:114207"
                     /translation="MVQKTSMSRGPYPPSQEIPMEVFDPSPQGKYSKRKGRFKRSDGS
                     TSSDTTSNSFVRQGSAESYTSRPSDSDVSLEEDREALRKEAERQALAQLEKAKTKPVA
                     FAVRTNVGYNPSPGDEVPVQGVAITFEPKDFLHIKEKYNNDWWIGRLVKEGCEVGFIP
                     SPVKLDSLRLLQEQKLRQNRLGSSKSGDNSSSSLGDVVTGTRRPTPPASAKQKQKSTE
                     HVPPYDVVPSMRPIILVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLA
                     KRSVLNNPSKHIIIERSNTRSSLAEVQSEIERIFELARTLQLVALDADTINHPAQLSK
                     TSLAPIIVYIKITSPKVLQRLIKSRGKSQSKHLNVQIAASEKLAQCPPEMFDIILDEN
                     QLEDACEHLAEYLEAYWKATHPPSSTPPNPLLNRTMATAALAASPAPVSNLQGPYLAS
                     GDQPLERATGEHASMHEYPGELGQPPGLYPSSHPPGRAGTLRALSRQDTFDADTPGSR
                     NSAYTELGDSCVDMETDPSEGPGLGDPAGGGTPPARQGSWEDEEEDYEEELTDNRNRG
                     RNKARYCAEGGGPVLGRNKNELEGWGRGVYIR"
     exon            259..345
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            346..465
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            466..588
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            589..725
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            726..802
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            803..822
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            823..903
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..962
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1072
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1224
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1320
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1506
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..3711
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3339..3344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="hexamer: TATAAA"
     polyA_site      3363
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="major polyA site"
     regulatory      3497..3502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="hexamer: AAGAAA"
     polyA_site      3516
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
     regulatory      3689..3694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
                     /note="hexamer: AATACA"
     polyA_site      3711
                     /gene="CACNB1"
                     /gene_synonym="CAB1; CACNLB1; CCHLB1"
ORIGIN      
        1 agtggagaga gcgggaggag cgagggaagg caggaaggag gcagccgaag gccgagctgg
       61 gtggctggac cgggtgctgg ctgcgccgcg ctgctttcgg ctcccacggc ctctcccatg
      121 cgctgaggga gcccggctgg gccgggccgg cggcgggagg ggaggctcct ctccatggtc
      181 cagaagacca gcatgtcccg gggcccttac ccaccctccc aggagatccc catggaggtc
      241 ttcgacccca gcccgcaggg caaatacagc aagaggaaag ggcgattcaa acggtcagat
      301 gggagcacgt cctcggatac cacatccaac agctttgtcc gccagggctc agcggagtcc
      361 tacaccagcc gtccatcaga ctctgatgta tctctggagg aggaccggga agccttaagg
      421 aaggaagcag agcgccaggc attagcgcag ctcgagaagg ccaagaccaa gccagtggca
      481 tttgctgtgc ggacaaatgt tggctacaat ccgtctccag gggatgaggt gcctgtgcag
      541 ggagtggcca tcaccttcga gcccaaagac ttcctgcaca tcaaggagaa atacaataat
      601 gactggtgga tcgggcggct ggtgaaggag ggctgtgagg ttggcttcat tcccagcccc
      661 gtcaaactgg acagccttcg cctgctgcag gaacagaagc tgcgccagaa ccgcctcggc
      721 tccagcaaat caggcgataa ctccagttcc agtctgggag atgtggtgac tggcacccgc
      781 cgccccacac cccctgccag tgccaaacag aagcagaagt cgacagagca tgtgcccccc
      841 tatgacgtgg tgccttccat gaggcccatc atcctggtgg gaccgtcgct caagggctac
      901 gaggttacag acatgatgca gaaagcttta tttgacttct tgaagcatcg gtttgatggc
      961 aggatctcca tcactcgtgt gacggcagat atttccctgg ctaagcgctc agttctcaac
     1021 aaccccagca aacacatcat cattgagcgc tccaacacac gctccagcct ggctgaggtg
     1081 cagagtgaaa tcgagcgaat cttcgagctg gcccggaccc ttcagttggt cgctctggat
     1141 gctgacacca tcaatcaccc agcccagctg tccaagacct cgctggcccc catcattgtt
     1201 tacatcaaga tcacctctcc caaggtactt caaaggctca tcaagtcccg aggaaagtct
     1261 cagtccaaac acctcaatgt ccaaatagcg gcctcggaaa agctggcaca gtgcccccct
     1321 gaaatgtttg acatcatcct ggatgagaac caattggagg atgcctgcga gcatctggcg
     1381 gagtacttgg aagcctattg gaaggccaca cacccgccca gcagcacgcc acccaatccg
     1441 ctgctgaacc gcaccatggc taccgcagcc ctggctgcca gccctgcccc tgtctccaac
     1501 ctccagggac cctaccttgc ttccggggac cagccactgg aacgggccac cggggagcac
     1561 gccagcatgc acgagtaccc aggggagctg ggccagcccc caggccttta ccccagcagc
     1621 cacccaccag gccgggcagg cacgctacgg gcactgtccc gccaagacac ttttgatgcc
     1681 gacacccccg gcagccgaaa ctctgcctac acggagctgg gagactcatg tgtggacatg
     1741 gagactgacc cctcagaggg gccagggctt ggagaccctg cagggggcgg cacgccccca
     1801 gcccgacagg gatcctggga ggacgaggaa gaagactatg aggaagagct gaccgacaac
     1861 cggaaccggg gccggaataa ggcccgctac tgcgctgagg gtgggggtcc agttttgggg
     1921 cgcaacaaga atgagctgga gggctgggga cgaggcgtct acattcgctg agaggcaggg
     1981 gccacacggc gggaggaagg gctctgagcc caggggaggg gagggagcga ggggctcaca
     2041 cctgacatgt attcgcctcc agggggcgct gtctccctcc tttcagatgc ctttgctcaa
     2101 agcttggggt ttctttggtg ttaccatccc agctcccggg aggcccttaa gccccagctg
     2161 tcggttttta cctgcctgtt gtggatggat gggggatacc cacctttctg aagtgtcccc
     2221 tttctcccat cttaaggggc tctcctccct caccctccta gagaaaaggt gcacttcctt
     2281 aactctttct actcggggcc ctaagtgacg gtcctaagtg ggatggctct ccttctccca
     2341 agctgcagta ctggggaagg gctgggcgct tttcctggaa agggaggcca cagattcttt
     2401 cccatggggg ctctcttccc cagaccccag atccaaggtc cctcaccctg cctgcccctt
     2461 cctcccagct tcctggcagc atcgtctggt cggtgaaagc catagcatgg acaccccatg
     2521 gggagcttgt cttggggagg gttctgggtg gaagctggca ggcatacagc accctctacc
     2581 ctccgtggcc atggcaacgt ccagggccca gaaccctgag gagtgagcgg ccgagacgct
     2641 gctccccacc ccccacctcc atgcctcagc ctttgcctac cccaggaatg agcttggcct
     2701 ccaacatccc ttgcctgctg ccattagtag agggggcccc tctgcatctg agccccccat
     2761 ccctgtgcca cctgggtgtg gagcccatgg aacactctgg tccgcctcat tttaaaccaa
     2821 aaaactgctc cttcaccctc accctgaggc cccaggggag aggacccgtg ggatggtgcc
     2881 caggggttgc cttgggacct cggatctcct ctggggggct tggctgctgc tgttgctgct
     2941 ctgtatttgc ctctcgtgat tctgtttgtt acccatgttc acttccccca ggagaggcct
     3001 tggtaccccc tctcccctgg ggcatccctt tgccttggca tccctgtagc ccagcaaccc
     3061 tgcccctccc cagcatccca gctgggccag agagagccga gtgtgccaac aaggactggg
     3121 gcctgcccgg ctgcccgcct cagggatggg cacctcatgc ctgtctcgcc acctcctgtg
     3181 ccaatgtccc accctccacc tgggggtggg gtgcagcttc cacttactga ttagaagaca
     3241 ccactgccct cccttccccc ctccctgtct ggtgtcctgt gcccccatct gtctgtctat
     3301 atttgtctgt actcccctag gagaagtatt ttgccatata taaaaccact gtcctgtcct
     3361 ttgtggctgc ctcccaagcc tgcttctttg tcctcgccac atagtcgtca gcgtaggcac
     3421 ctgggagctg ctgatatgca cggggagttg aaagggtggg tgcctgaaga tgttgtgccc
     3481 tgagtcattg actcaaaaga aaagatgatc ctttgatttt ggccctctga tgtattgtgc
     3541 ccaagccagg agctgcttgg gcagtcccag ctccacactg gccctgagcc ccttcactta
     3601 cctgtctctc cacaagtaga gccaaaggca atgggaagct caatgttgct cagtgggtga
     3661 gatccagacc cactggtgca atgtcttaaa tacacatgac tgtttttctg c
//
