LOCUS       NM_004997               1818 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens myosin binding protein H (MYBPH), mRNA.
ACCESSION   NM_004997
VERSION     NM_004997.3
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 1818)
  AUTHORS   Mouton,J.M., van der Merwe,L., Goosen,A., Revera,M., Brink,P.A.,
            Moolman-Smook,J.C. and Kinnear,C.
  TITLE     MYBPH acts as modifier of cardiac hypertrophy in hypertrophic
            cardiomyopathy (HCM) patients
  JOURNAL   Hum Genet 135 (5), 477-483 (2016)
   PUBMED   26969327
  REMARK    GeneRIF: variation in MYBPH can modulate the severity of
            hypertrophy in hypertrophic cardiomyopathy patients.
REFERENCE   2  (bases 1 to 1818)
  AUTHORS   Goldstein,J.I., Jarskog,L.F., Hilliard,C., Alfirevic,A., Duncan,L.,
            Fourches,D., Huang,H., Lek,M., Neale,B.M., Ripke,S., Shianna,K.,
            Szatkiewicz,J.P., Tropsha,A., van den Oord,E.J., Cascorbi,I.,
            Dettling,M., Gazit,E., Goff,D.C., Holden,A.L., Kelly,D.L.,
            Malhotra,A.K., Nielsen,J., Pirmohamed,M., Rujescu,D., Werge,T.,
            Levy,D.L., Josiassen,R.C., Kennedy,J.L., Lieberman,J.A., Daly,M.J.
            and Sullivan,P.F.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1818)
  AUTHORS   Conti,A., Riva,N., Pesca,M., Iannaccone,S., Cannistraci,C.V.,
            Corbo,M., Previtali,S.C., Quattrini,A. and Alessio,M.
  TITLE     Increased expression of Myosin binding protein H in the skeletal
            muscle of amyotrophic lateral sclerosis patients
  JOURNAL   Biochim Biophys Acta 1842 (1), 99-106 (2014)
   PUBMED   24184715
  REMARK    GeneRIF: MyBP-H expression signals the onset of dysregulation in
            actin-myosin interaction; this in turn might contribute to the
            pathogenesis of amyotrophic lateral sclerosis.
REFERENCE   4  (bases 1 to 1818)
  AUTHORS   Blandin,G., Marchand,S., Charton,K., Daniele,N., Gicquel,E.,
            Boucheteil,J.B., Bentaib,A., Barrault,L., Stockholm,D., Bartoli,M.
            and Richard,I.
  TITLE     A human skeletal muscle interactome centered on proteins involved
            in muscular dystrophies: LGMD interactome
  JOURNAL   Skelet Muscle 3 (1), 3 (2013)
   PUBMED   23414517
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1818)
  AUTHORS   Hosono,Y., Usukura,J., Yamaguchi,T., Yanagisawa,K., Suzuki,M. and
            Takahashi,T.
  TITLE     MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA
            and reduces cell motility
  JOURNAL   Biochem Biophys Res Commun 428 (1), 173-178 (2012)
   PUBMED   23068101
  REMARK    GeneRIF: These results suggest that MYBPH inhibits RLC and NMHC
            IIA, independent components of NM IIA, and negatively regulates
            actomyosin organization at 2 distinct steps, resulting in firm
            inhibition of NM IIA assembly.
REFERENCE   6  (bases 1 to 1818)
  AUTHORS   Hosono,Y., Yamaguchi,T., Mizutani,E., Yanagisawa,K., Arima,C.,
            Tomida,S., Shimada,Y., Hiraoka,M., Kato,S., Yokoi,K., Suzuki,M. and
            Takahashi,T.
  TITLE     MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and
            reduces cell motility and metastasis
  JOURNAL   EMBO J 31 (2), 481-493 (2012)
   PUBMED   22085929
  REMARK    GeneRIF: MYBPH inhibited assembly competence-conferring
            phosphorylation of the myosin regulatory light chain (RLC) as well
            as activating phosphorylation of LIM domain kinase, unexpectedly
            through its direct physical interaction with Rho kinase 1
REFERENCE   7  (bases 1 to 1818)
  AUTHORS   Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1818)
  AUTHORS   Welikson,R.E. and Fischman,D.A.
  TITLE     The C-terminal IgI domains of myosin-binding proteins C and H
            (MyBP-C and MyBP-H) are both necessary and sufficient for the
            intracellular crosslinking of sarcomeric myosin in transfected
            non-muscle cells
  JOURNAL   J Cell Sci 115 (Pt 17), 3517-3526 (2002)
   PUBMED   12154082
REFERENCE   9  (bases 1 to 1818)
  AUTHORS   Gruen,M. and Gautel,M.
  TITLE     Mutations in beta-myosin S2 that cause familial hypertrophic
            cardiomyopathy (FHC) abolish the interaction with the regulatory
            domain of myosin-binding protein-C
  JOURNAL   J Mol Biol 286 (3), 933-949 (1999)
   PUBMED   10024460
REFERENCE   10 (bases 1 to 1818)
  AUTHORS   Vaughan,K.T., Weber,F.E., Ried,T., Ward,D.C., Reinach,F.C. and
            Fischman,D.A.
  TITLE     Human myosin-binding protein H (MyBP-H): complete primary sequence,
            genomic organization, and chromosomal localization
  JOURNAL   Genomics 16 (1), 34-40 (1993)
   PUBMED   8486381
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC105940.2, BC044226.1 and L05606.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004997.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853561.2552.1, BC044226.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000255416.9/ ENSP00000255416.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC105940.2         117176-117187       c
            13-703              BC044226.1         1-691
            704-1286            L05606.1           661-1243
            1287-1429           BC044226.1         1275-1417
            1430-1507           L05606.1           1384-1461
            1508-1773           BC044226.1         1496-1761
            1774-1818           L05606.1           1728-1772
FEATURES             Location/Qualifiers
     source          1..1818
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..1818
                     /gene="MYBPH"
                     /note="myosin binding protein H"
                     /db_xref="GeneID:4608"
                     /db_xref="HGNC:HGNC:7552"
                     /db_xref="MIM:160795"
     exon            1..276
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1505
                     /gene="MYBPH"
                     /note="myBP-H; H-protein"
                     /codon_start=1
                     /product="myosin-binding protein H"
                     /protein_id="NP_004988.2"
                     /db_xref="CCDS:CCDS30975.1"
                     /db_xref="GeneID:4608"
                     /db_xref="HGNC:HGNC:7552"
                     /db_xref="MIM:160795"
                     /translation="MMEKNTSEGPACSPEETASESAKVPTAEPPGEVAVSESTREEQV
                     PKPQAPAPQAPTASTATKPAPPSEDVPSAPLLLTLDDVSSSSVTVSWEPPERLGRLGL
                     QGYVLELCREGASEWVPVSARPMMVTQQTVRNLALGDKFLLRVSAVSSAGAGPPAMLD
                     QPIHIRENIEAPKIRVPRHLRQTYIRQVGETVNLQIPFQGKPKPQATWTHNGHALDSQ
                     RVSMRTGDQDSILFIRSAQRSDSGRYELTVRVEDLEAKAVIDILVIEKPGPPSSIRLL
                     DVWGCNAALQWTPPQDTGNTELLGYMVQKADKKTGQWFTVLERYHPTTCTISDLIIGN
                     SYSFRVFSENLCGLSTSATVTKELAHIQKADIAAKPKGFIERDFSEAPSFTQPLADHT
                     STPGYSTQLFCSVRASPKPKIIWMKNKMEIQGNPKYRALSEQGVCTLEIRKPSPFDSG
                     VYTCKAINVLGEASVDCRLEVKASAAH"
     exon            277..411
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            412..579
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            580..668
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            669..864
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            865..1004
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1164
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1301
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1488
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1537
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..1818
                     /gene="MYBPH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1793..1798
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MYBPH"
                     /note="hexamer: AATAAA"
     polyA_site      1818
                     /gene="MYBPH"
                     /note="major polyA site"
ORIGIN      
        1 accctagagg cccaggcccc ccaacggctg acccctgcac actccaccct ggccccccag
       61 ccagtccagc aatgatggaa aaaaacacct ccgagggccc tgcctgcagt ccagaggaga
      121 ccgcatctga atctgccaag gtgcccacag cagagcctcc cggagaagtg gcagtatcag
      181 agtccaccag agaagagcag gtgcccaagc cgcaggcccc tgccccacag gcccctacag
      241 cctccacagc cactaagcct gcacccccaa gtgaagatgt ccccagtgcc ccactgctgc
      301 tgaccctgga tgatgtgagc agcagctctg tgactgtgag ctgggagccc ccagagaggc
      361 tggggaggct gggcctccag ggctatgtgc tggagctctg cagagaggga gcctcggagt
      421 gggtgcctgt gagtgcccgg cccatgatgg tgacccagca gactgtgcgg aacctggctc
      481 tgggagacaa gttcctcctg cgcgtgtctg cagtgagttc tgcaggggct ggcccgccgg
      541 ccatgctgga ccagcccatc cacatccgag agaacattga ggcccccaag atccgtgtcc
      601 cccgccacct ccgtcagacc tacatccgcc aggtgggaga gacggtcaac ctgcaaatcc
      661 ccttccaggg gaagcctaag cctcaggcca catggaccca caacggccat gccctggaca
      721 gccagcgggt gagcatgcgc accggggacc aggactccat cctcttcatt cgctcggccc
      781 agcgctccga ctctggccgc tacgagctca ctgtgcgcgt ggaagacctg gaggccaagg
      841 cagtcattga catcctggtg attgagaaac ctggaccccc cagcagcatc aggctcctgg
      901 acgtctgggg ctgcaatgct gctcttcagt ggacgccacc ccaggacaca ggcaacacag
      961 agctcctggg ctacatggtg cagaaggcag acaaaaagac agggcaatgg ttcacagtgc
     1021 tggagcgcta ccacccaacc acctgcacca tctctgacct catcatcggc aactcgtact
     1081 ccttccgggt cttctcagaa aacctgtgtg gactcagcac ctcggccacc gtcaccaagg
     1141 agctcgccca catccagaag gcagatattg ctgccaaacc taaagggttt attgagcgag
     1201 acttctcaga agccccctca ttcacccagc ccctggctga ccacacctcc acccctggct
     1261 acagcaccca gttgttctgc agtgtccgag cttcacccaa gcccaagatc atctggatga
     1321 aaaacaagat ggagatccag ggcaacccca aataccgcgc cctctctgag caaggcgtct
     1381 gcaccctaga gatccggaaa cccagcccct ttgattctgg ggtctacacc tgcaaggcca
     1441 taaatgtgct gggggaggca tctgtggact gccggctgga ggtcaaagcc tcagccgcac
     1501 actgaagtca cgggaggagg ctgtgatgag gagccaggtg ctgcaggcct gaggggccag
     1561 gtccaccagg cctacagtca aactccagag atgcccaaga cccccgcttc catagcgacg
     1621 gctgatggaa ccgcccctgg tacctgctgg cctcccttcc ccagaggctg gtgtccagaa
     1681 ctcaggaatg ggcctggtag gccccaggcc agactaactg ggctcaaggg gtgctggaag
     1741 gcgcagagat tggagtgccc tgcggagttg cactctgggt gggaagcact caaataaaga
     1801 tgcgtggtgt taacagtg
//
