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Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000256 Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

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RefSeq Version NM_000256.3, 148596956
Length 4217 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.
Product myosin-binding protein C, cardiac-type
Comment

Summary: MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008].

RefSeq NP_000247.2
CDS 56..3880
Misc Feature(1)89..337
Misc Feature(2)89..337
Misc Feature(3)98..322
Misc Feature(4)524..823
Misc Feature(5)596..787
Misc Feature(6)1148..1402
Misc Feature(7)1172..1174
Misc Feature(8)1226..1369
Misc Feature(9)1421..1678
Misc Feature(10)1466..>1630
Misc Feature(11)1712..>1897
Misc Feature(12)2015..2359
Misc Feature(13)2018..2359
Misc Feature(14)2369..2641
Misc Feature(15)order(2369..2371,2567..2569,2612..2614)
Misc Feature(16)order(2615..2620,2624..2629)
Misc Feature(17)2663..2899
Misc Feature(18)order(2663..2665,2861..2863)
Misc Feature(19)3023..3241
Misc Feature(20)3251..3517
Misc Feature(21)order(3251..3253,3446..3448,3491..3493)
Misc Feature(22)order(3494..3499,3503..3508)
Misc Feature(23)3596..3865
Misc Feature(24)3647..3850
Exon (1)1..80
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (2)81..347
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (3)348..461
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (4)462..560
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (5)561..709
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (6)710..827
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (7)828..876
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (8)877..906
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (9)907..960
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (10)961..963
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (11)964..981
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (12)982..1145
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (13)1146..1278
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (14)1279..1281
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (15)1282..1406
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (16)1407..1512
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (17)1513..1679
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (18)1680..1845
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (19)1846..1952
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (20)1953..1982
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (21)1983..2122
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (22)2123..2203
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (23)2204..2363
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (24)2364..2468
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (25)2469..2657
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (26)2658..2792
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (27)2793..2960
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (28)2961..3049
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (29)3050..3245
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (30)3246..3385
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (31)3386..3545
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (32)3546..3682
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (33)3683..3869
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (34)3870..3906
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Exon (35)3907..4217
Gene:MYBPC3
Gene Synonym:CMH4; FHC; MYBP-C
Translation MPEPGKKPVSAFSKKPRSVEVAAGSPAVFEAETERAGVKVRWQRGGSDISASNKYGLATE GTRHTLTVREVGPADQGSYAVIAGSSKVKFDLKVIEAEKAEPMLAPAPAPAEATGAPGEA PAPAAELGESAPSPKGSSSAALNGPTPGAPDDPIGLFVMRPQDGEVTVGGSITFSARVAG ASLLKPPVVKWFKGKWVDLSSKVGQHLQLHDSYDRASKVYLFELHITDAQPAFTGSYRCE VSTKDKFDCSNFNLTVHEAMGTGDLDLLSAFRRTSLAGGGRRISDSHEDTGILDFSSLLK KRDSFRTPRDSKLEAPAEEDVWEILRQAPPSEYERIAFQYGVTDLRGMLKRLKGMRRDEK KSTAFQKKLEPAYQVSKGHKIRLTVELADHDAEVKWLKNGQEIQMSGSKYIFESIGAKRT LTISQCSLADDAAYQCVVGGEKCSTELFVKEPPVLITRPLEDQLVMVGQRVEFECEVSEE GAQVKWLKDGVELTREETFKYRFKKDGQRHHLIINEAMLEDAGHYALCTSGGQALAELIV QEKKLEVYQSIADLMVGAKDQAVFKCEVSDENVRGVWLKNGKELVPDSRIKVSHIGRVHK LTIDDVTPADEADYSFVPEGFACNLSAKLHFMEVKIDFVPRQEPPKIHLDCPGRIPDTIV VVAGNKLRLDVPISGDPAPTVIWQKAITQGNKAPARPAPDAPEDTGDSDEWVFDKKLLCE TEGRVRVETTKDRSIFTVEGAEKEDEGVYTVTVKNPVGEDQVNLTVKVIDVPDAPAAPKI SNVGEDSCTVQWEPPAYDGGQPILGYILERKKKKSYRWMRLNFDLIQELSHEARRMIEGV VYEMRVYAVNAIGMSRPSPASQPFMPIGPPSEPTHLAVEDVSDTTVSLKWRPPERVGAGG LDGYSVEYCPEGCSEWVAALQGLTEHTSILVKDLPTGARLLFRVRAHNMAGPGAPVTTTE PVTVQEILQRPRLQLPRHLRQTIQKKVGEPVNLLIPFQGKPRPQVTWTKEGQPLAGEEVS IRNSPTDTILFIRAARRVHSGTYQVTVRIENMEDKATLVLQVVDKPSPPQDLRVTDAWGL NVALEWKPPQDVGNTELWGYTVQKADKKTMEWFTVLEHYRRTHCVVPELIIGNGYYFRVF SQNMVGFSDRAATTKEPVFIPRPGITYEPPNYKALDFSEAPSFTQPLVNRSVIAGYTAML CCAVRGSPKPKISWFKNGLDLGEDARFRMFSKQGVLTLEIRKPCPFDGGIYVCRATNLQG EARCECRLEVRVPQ
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Position Chain Variation Link
complement(68)-g, cdbSNP:201278114
complement(88)-dbSNP:
complement(88)-t, cdbSNP:2596402
complement(230)-g, adbSNP:121909375
complement(263)-t, gdbSNP:11570045
complement(427)-dbSNP:
complement(427)-t, cdbSNP:11570046
complement(526)-dbSNP:
complement(526)-g, adbSNP:150291001
complement(527)-g, adbSNP:3729986
complement(533)-g, adbSNP:193068692
complement(547)-t, cdbSNP:3218719
complement(573)-dbSNP:
complement(573)-g, adbSNP:113941605
complement(584)-t, cdbSNP:193922385
complement(585)-t, cdbSNP:201012766
complement(592)-t, cdbSNP:11570051
complement(620)-g, adbSNP:11570052
complement(679)-g, cdbSNP:202139499
complement(701)-t, cdbSNP:201098973
complement(704)-t, cdbSNP:138753870
complement(761)-dbSNP:
complement(761)-g, adbSNP:3729989
complement(799)-c, adbSNP:2857543
complement(831)-dbSNP:
complement(831)-g, adbSNP:187455402
complement(841)-t, cdbSNP:11570058
complement(888)-dbSNP:
complement(888)-t, cdbSNP:147315081
complement(897)-g, adbSNP:11570060
complement(964)-dbSNP:
complement(964)-g, adbSNP:200713257
complement(987)-dbSNP:
complement(987)-c, adbSNP:193922386
complement(1016)-t, cdbSNP:200119454
complement(1032)-g, adbSNP:34580776
complement(1125)-t, cdbSNP:199741162
complement(1199)-dbSNP:
complement(1199)-t, cdbSNP:11570076
complement(1202)-g, cdbSNP:11570077
complement(1345)-dbSNP:
complement(1345)-g, adbSNP:200664621
complement(1357)-g, adbSNP:190228518
complement(1374)-t, cdbSNP:142317339
complement(1376)-g, adbSNP:193922377
complement(1522)-dbSNP:
complement(1522)-t, cdbSNP:35690719
complement(1523)-t, cdbSNP:200625851
complement(1539)-t, cdbSNP:200411226
complement(1574)-g, adbSNP:35736435
complement(1599)-t, cdbSNP:181834806
complement(1619)-g, adbSNP:11570082
complement(1663)-t, adbSNP:200224422
complement(1679)-g, cdbSNP:121909374
complement(1775)-dbSNP:
complement(1775)-t, gdbSNP:61897383
complement(1841)-t, cdbSNP:199728019
complement(1844)-g, adbSNP:201596087
complement(1910)-dbSNP:
complement(1910)-t, cdbSNP:200352299
complement(1918)-t, cdbSNP:193922378
complement(2016)-dbSNP:
complement(2016)-g, adbSNP:1800565
complement(2118)-c, adbSNP:3729946
complement(2179)-dbSNP:
complement(2179)-g, adbSNP:113658284
complement(2225)-dbSNP:
complement(2225)-g, adbSNP:200399246
complement(2265)-g, adbSNP:199893357
complement(2266)-t, cdbSNP:113265977
complement(2363)-g, adbSNP:36211723
complement(2429)-dbSNP:
complement(2429)-g, c, adbSNP:187830361
complement(2464)-t, gdbSNP:202088839
complement(2465)-c, adbSNP:3729950
complement(2514)-dbSNP:
complement(2514)-g, adbSNP:2856655
complement(2542)-c, adbSNP:201040413
complement(2552)-t, cdbSNP:199865688
complement(2553)-t, cdbSNP:3729952
complement(2592)-t, adbSNP:193922379
complement(2602)-t, cdbSNP:3729953
complement(2656)-t, cdbSNP:11570097
complement(2669)-dbSNP:
complement(2669)-t, cdbSNP:190765116
complement(2741)-g, adbSNP:35078470
complement(2809..2810)-dbSNP:
complement(2809..2810)-, cdbSNP:34114081
complement(2826)-g, adbSNP:200406864
complement(2898)-c, adbSNP:121909376
complement(2925)-g, cdbSNP:193922380
complement(2969)-dbSNP:
complement(2969)-t, cdbSNP:193922382
complement(3047)-g, cdbSNP:11570112
complement(3059)-dbSNP:
complement(3059)-t, cdbSNP:3729799
complement(3142)-g, adbSNP:201515977
complement(3157)-g, adbSNP:200663253
complement(3161)-g, adbSNP:61729664
complement(3197)-t, cdbSNP:11570113
complement(3279)-dbSNP:
complement(3279)-g, cdbSNP:150786409
complement(3334)-t, cdbSNP:36212064
complement(3341)-t, gdbSNP:121909377
complement(3343)-g, adbSNP:1052373
complement(3364)-g, cdbSNP:185428948
complement(3370)-t, gdbSNP:200372325
complement(3428)-dbSNP:
complement(3428)-g, adbSNP:121909378
complement(3463)-c, adbSNP:193922383
complement(3468)-t, cdbSNP:187705120
complement(3590)-dbSNP:
complement(3590)-t, cdbSNP:199669878
complement(3624)-t, cdbSNP:117354682
complement(3737)-dbSNP:
complement(3737)-g, adbSNP:201312636
complement(3754)-t, cdbSNP:200162906
complement(3797)-t, cdbSNP:202147520
3814..3815+, gggggcatctatgtctgcdbSNP:193922384
complement(3920)-dbSNP:
complement(3920)-g, adbSNP:148237662
complement(3949)-g, adbSNP:11570120
complement(3993)-c, adbSNP:117960173
complement(4116)-g, adbSNP:11570121
Gene SymbolMYBPC3
Gene SynonymCMH4; FHC; MYBP-C
Chromosome11
Locus Map11p11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000256 Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. On-demand $1699.00 25
Title GSK3beta phosphorylates newly identified site in the proline-alanine-rich region of cardiac myosin-binding protein C and alters cross-bridge cycling kinetics in human: short communication .
Author Kuster,D.W., Sequeira,V., Najafi,A., Boontje,N.M., Wijnker,P.J., Witjas-Paalberends,E.R., Marston,S.B., Dos Remedios,C.G., Carrier,L., Demmers,J.A., Redwood,C., Sadayappan,S. and van der Velden,J.
Journal Circ. Res. 112 (4), 633-639 (2013)
Title The motif of human cardiac myosin-binding protein C is required for its Ca2+-dependent interaction with calmodulin .
Author Lu,Y., Kwan,A.H., Jeffries,C.M., Guss,J.M. and Trewhella,J.
Journal J. Biol. Chem. 287 (37), 31596-31607 (2012)
Title Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle .
Author Vydyanath,A., Gurnett,C.A., Marston,S. and Luther,P.K.
Journal J. Muscle Res. Cell. Motil. 33 (1), 61-74 (2012)
Title A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death .
Author Teirlinck,C.H., Senni,F., Malti,R.E., Majoor-Krakauer,D., Fellmann,F., Millat,G., Andre-Fouet,X., Pernot,F., Stumpf,M., Boutarin,J. and Bouvagnet,P.
Journal BMC Med. Genet. 13, 105 (2012)
Title Cardiac myosin binding protein C and MAP-kinase activating death domain-containing gene polymorphisms and diastolic heart failure .
Author Wu,C.K., Huang,Y.T., Lee,J.K., Chiang,L.T., Chiang,F.T., Huang,S.W., Lin,J.L., Tseng,C.D., Chen,Y.H. and Tsai,C.T.
Journal PLoS ONE 7 (4), E35242 (2012)
Title Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy .
Author Bonne,G., Carrier,L., Bercovici,J., Cruaud,C., Richard,P., Hainque,B., Gautel,M., Labeit,S., James,M., Beckmann,J., Weissenbach,J., Vosberg,H.P., Fiszman,M., Komajda,M. and Schwartz,K.
Journal Nat. Genet. 11 (4), 438-440 (1995)
Title Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy .
Author Watkins,H., Conner,D., Thierfelder,L., Jarcho,J.A., MacRae,C., McKenna,W.J., Maron,B.J., Seidman,J.G. and Seidman,C.E.
Journal Nat. Genet. 11 (4), 434-437 (1995)
Title Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? .
Author Gautel,M., Zuffardi,O., Freiburg,A. and Labeit,S.
Journal EMBO J. 14 (9), 1952-1960 (1995)
Title Effect of C-protein on actomyosin ATPase .
Author Moos,C. and Feng,I.N.
Journal Biochim. Biophys. Acta 632 (2), 141-149 (1980)
Title The interaction of C-protein with heavy meromyosin and subfragment-2 .
Author Starr,R. and Offer,G.
Journal Biochem. J. 171 (3), 813-816 (1978)


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