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Q14896 (MYPC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 149. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myosin-binding protein C, cardiac-type

Short name=Cardiac MyBP-C
Alternative name(s):
C-protein, cardiac muscle isoform
Gene names
Name:MYBPC3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1274 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

Post-translational modification

Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction By similarity.

Involvement in disease

Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.3 Ref.14 Ref.15 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.31 Ref.32 Ref.33 Ref.34 Ref.37

Cardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.35

Left ventricular non-compaction 10 (LVNC10) [MIM:615396]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.36

Sequence similarities

Belongs to the immunoglobulin superfamily. MyBP family.

Contains 3 fibronectin type-III domains.

Contains 7 Ig-like C2-type (immunoglobulin-like) domains.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentThick filament
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCardiomyopathy
Disease mutation
   DomainImmunoglobulin domain
Repeat
   LigandActin-binding
Metal-binding
Zinc
   Molecular functionMuscle protein
   PTMAcetylation
Disulfide bond
Phosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcardiac muscle contraction

Inferred from sequence or structural similarity. Source: BHF-UCL

cell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

heart morphogenesis

Inferred from mutant phenotype PubMed 7493025. Source: BHF-UCL

muscle filament sliding

Traceable author statement. Source: Reactome

myosin filament assembly

Inferred from electronic annotation. Source: Ensembl

positive regulation of ATPase activity

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of heart rate

Inferred from electronic annotation. Source: Ensembl

regulation of muscle filament sliding

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of striated muscle contraction

Inferred from sequence or structural similarity. Source: BHF-UCL

sarcomere organization

Inferred from electronic annotation. Source: Ensembl

ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 16754800. Source: BHF-UCL

   Cellular_componentA band

Inferred from direct assay PubMed 10024460. Source: BHF-UCL

C zone

Non-traceable author statement PubMed 15166115. Source: BHF-UCL

cytosol

Traceable author statement. Source: Reactome

sarcomere

Inferred from direct assay PubMed 10024460. Source: BHF-UCL

striated muscle myosin thick filament

Inferred from direct assay PubMed 10024460. Source: BHF-UCL

   Molecular_functionATPase activator activity

Inferred from sequence or structural similarity. Source: BHF-UCL

identical protein binding

Inferred from physical interaction PubMed 18201573. Source: IntAct

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

myosin binding

Inferred from direct assay PubMed 10024460. Source: BHF-UCL

myosin heavy chain binding

Inferred from physical interaction PubMed 17192269. Source: BHF-UCL

structural constituent of muscle

Inferred from mutant phenotype PubMed 7493025. Source: BHF-UCL

titin binding

Non-traceable author statement PubMed 7493025. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

itself2EBI-704176,EBI-704176

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14896-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q14896-2)

The sequence of this isoform differs from the canonical sequence as follows:
     408-409: SK → R

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12741274Myosin-binding protein C, cardiac-type
PRO_0000072693

Regions

Domain153 – 256104Ig-like C2-type 1
Domain362 – 45291Ig-like C2-type 2
Domain453 – 54391Ig-like C2-type 3
Domain544 – 63390Ig-like C2-type 4
Domain645 – 771127Ig-like C2-type 5
Domain774 – 87097Fibronectin type-III 1
Domain872 – 96796Fibronectin type-III 2
Domain971 – 106595Ig-like C2-type 6
Domain1068 – 116396Fibronectin type-III 3
Domain1181 – 127494Ig-like C2-type 7
Compositional bias102 – 15251Pro-rich

Sites

Metal binding2081Zinc
Metal binding2101Zinc
Metal binding2231Zinc
Metal binding2251Zinc

Amino acid modifications

Modified residue11N-acetylmethionine By similarity
Modified residue2751Phosphoserine; by PKA and PKC By similarity
Modified residue2841Phosphoserine; by PKA and PKC By similarity
Modified residue3041Phosphoserine; by PKA and PKC By similarity
Disulfide bond436 ↔ 443 Potential

Natural variations

Alternative sequence408 – 4092SK → R in isoform 2.
VSP_047141
Natural variant51G → R in CMH4. Ref.29
VAR_029390
Natural variant591T → A in CMH4. Ref.20
VAR_029391
Natural variant1581V → M. Ref.4 Ref.29 Ref.34
Corresponds to variant rs3729986 [ dbSNP | Ensembl ].
VAR_020085
Natural variant1611P → S in CMH4. Ref.25
VAR_029392
Natural variant1891V → I. Ref.4
Corresponds to variant rs11570052 [ dbSNP | Ensembl ].
VAR_020568
Natural variant2191V → L in CMH4. Ref.29
VAR_029393
Natural variant2281D → N in CMH4. Ref.28
VAR_029394
Natural variant2361S → G. Ref.4 Ref.19 Ref.24 Ref.29 Ref.30 Ref.34
Corresponds to variant rs3729989 [ dbSNP | Ensembl ].
VAR_020086
Natural variant2371Y → S in CMH4. Ref.27
VAR_029395
Natural variant2561V → I in CMH4. Ref.29
VAR_029396
Natural variant2571H → P in CMH4. Ref.22
VAR_019889
Natural variant2581E → K in CMH4. Ref.21 Ref.22 Ref.24 Ref.25 Ref.28 Ref.29 Ref.31 Ref.33
VAR_019890
Natural variant2631G → R in CMH4. Ref.31
VAR_042740
Natural variant2721R → C in CMH4. Ref.33
VAR_070449
Natural variant2731R → H in CMH4. Ref.32
VAR_042741
Natural variant2781G → E in CMH4. Ref.22 Ref.34
Corresponds to variant rs147315081 [ dbSNP | Ensembl ].
VAR_019891
Natural variant2791G → A in CMH4. Ref.22
VAR_019892
Natural variant2811R → Q. Ref.4
Corresponds to variant rs11570060 [ dbSNP | Ensembl ].
VAR_020569
Natural variant2821R → W in CMH4. Ref.18 Ref.24
VAR_029397
Natural variant3261R → Q. Ref.17 Ref.19 Ref.20 Ref.22 Ref.24 Ref.27 Ref.29 Ref.32 Ref.34
Corresponds to variant rs34580776 [ dbSNP | Ensembl ].
VAR_019893
Natural variant3361I → V in CMH4. Ref.33
VAR_070450
Natural variant3521L → P in CMH4. Ref.22
VAR_019894
Natural variant3821R → W. Ref.4 Ref.29
Corresponds to variant rs11570076 [ dbSNP | Ensembl ].
VAR_020570
Natural variant3831L → V. Ref.4
Corresponds to variant rs11570077 [ dbSNP | Ensembl ].
VAR_020571
Natural variant4161G → S. Ref.29
VAR_029398
Natural variant4171A → S in CMH4. Ref.31
VAR_042742
Natural variant4511E → Q in CMH4. Ref.3
VAR_027879
Natural variant4581R → H in CMH4. Ref.29
VAR_029399
Natural variant4901G → R in CMH4, CMD1MM and LVNC10. Ref.29 Ref.34 Ref.35 Ref.36
VAR_029400
Natural variant4901G → V in CMH4. Ref.37
VAR_070451
Natural variant4951R → G in CMH4. Ref.34
VAR_045929
Natural variant4951R → Q in CMH4. Ref.3 Ref.17 Ref.29 Ref.33
VAR_027880
Natural variant5021R → Q in CMH4. Ref.3 Ref.33 Ref.34
VAR_027881
Natural variant5021R → W in CMH4. Ref.22 Ref.29 Ref.32 Ref.34
VAR_019895
Natural variant5041Missing in CMH4. Ref.22
VAR_019896
Natural variant5071G → R in CMH4. Ref.18 Ref.24 Ref.29
Corresponds to variant rs35736435 [ dbSNP | Ensembl ].
VAR_029401
Natural variant5221A → T. Ref.4
Corresponds to variant rs11570082 [ dbSNP | Ensembl ].
VAR_020573
Natural variant5231G → W in CMH4. Ref.24
VAR_029402
Natural variant5421E → Q in CMH4. Ref.2 Ref.22 Ref.29 Ref.32
VAR_003917
Natural variant5451L → M. Ref.29
VAR_029403
Natural variant5661C → R in CMH4. Ref.18 Ref.24
VAR_029404
Natural variant6041D → V in CMH4. Ref.29
VAR_029405
Natural variant6051D → N in CMH4; unknown pathological significance. Ref.25 Ref.29 Ref.34
VAR_029406
Natural variant6081P → L in CMH4. Ref.29
VAR_029407
Natural variant6541R → H in CMH4; as well folded and stable as the wild-type. Ref.9 Ref.15
Corresponds to variant rs1800565 [ dbSNP | Ensembl ].
VAR_003918
Natural variant6681R → H in CMH4. Ref.27
VAR_029408
Natural variant6681R → P in CMH4. Ref.24
VAR_029409
Natural variant6691L → H in CMH4. Ref.31
VAR_042743
Natural variant7331R → C in CMH4. Ref.29
VAR_029410
Natural variant7551N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. Ref.9 Ref.14
VAR_003919
Natural variant7591E → D in CMH4. Ref.31
VAR_042744
Natural variant7701D → N in CMH4. Ref.29
Corresponds to variant rs36211723 [ dbSNP | Ensembl ].
VAR_029411
Natural variant7921W → R in CMH4. Ref.29
VAR_029412
Natural variant8101R → H in CMH4. Ref.21 Ref.29
VAR_029413
Natural variant8111K → R in CMH4. Ref.22
VAR_019897
Natural variant8111Missing in CMH4. Ref.29
VAR_029414
Natural variant8131Missing in CMH4. Ref.28
VAR_029415
Natural variant8201R → Q in CMH4. Ref.1 Ref.2 Ref.21 Ref.26
Corresponds to variant rs2856655 [ dbSNP | Ensembl ].
VAR_029416
Natural variant8331A → T in CMH4 and CMD1MM. Ref.25 Ref.27 Ref.28 Ref.29 Ref.35
VAR_029417
Natural variant8331A → V in CMH4. Ref.4 Ref.22 Ref.24
Corresponds to variant rs3729952 [ dbSNP | Ensembl ].
VAR_019898
Natural variant8341R → T in CMH4.
VAR_029418
Natural variant8341R → W in CMH4; pathogenicity is uncertain. Ref.25
VAR_029419
Natural variant8731P → H in CMH4. Ref.21
VAR_029420
Natural variant8731P → L in LVNC10. Ref.36
VAR_070452
Natural variant8961V → M May act as a phenotype modifier in cardiomyopathy patients. Ref.16 Ref.22 Ref.27 Ref.29 Ref.34
Corresponds to variant rs35078470 [ dbSNP | Ensembl ].
VAR_019899
Natural variant9481N → T in CMH4. Ref.19
VAR_029421
Natural variant9571T → S in CMH4. Ref.33
VAR_070453
Natural variant9581T → I in CMH4. Ref.33
VAR_070454
Natural variant9981Q → E in CMH4; dbNP:11570112. Ref.4 Ref.29
Corresponds to variant rs11570112 [ dbSNP | Ensembl ].
VAR_020574
Natural variant9981Q → R in CMH4. Ref.29
VAR_029422
Natural variant10021R → Q in CMH4. Ref.20
VAR_029423
Natural variant10021R → W. Ref.34
Corresponds to variant rs3729799 [ dbSNP | Ensembl ].
VAR_029424
Natural variant10031P → Q in CMH4.
VAR_029425
Natural variant10281T → S in CMH4. Ref.34
VAR_045930
Natural variant10481R → C. Ref.4
Corresponds to variant rs11570113 [ dbSNP | Ensembl ].
VAR_020575
Natural variant11131F → I in CMH4. Ref.29
VAR_029426
Natural variant11151V → I in CMH4. Ref.18 Ref.24
VAR_029427
Natural variant11311I → T in CMH4; unknown pathological significance. Ref.25 Ref.29
VAR_029428
Natural variant11551Missing in CMH4.
VAR_029429
Natural variant11941A → T in CMH4. Ref.22
VAR_019900
Natural variant12481G → R in CMH4. Ref.34
VAR_045931
Natural variant12551A → T in CMH4. Ref.22
VAR_019901
Natural variant12641C → F in CMD1MM. Ref.35
VAR_070455

Experimental info

Sequence conflict2481D → E Ref.1
Sequence conflict2481D → E Ref.2
Sequence conflict302 – 3032RD → SS in AAR89909. Ref.4
Sequence conflict5361A → R in CAA58882. Ref.1

Secondary structure

................................................................ 1274
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 28, 2012. Version 4.
Checksum: 4E5385C40085B796

FASTA1,274140,762
        10         20         30         40         50         60 
MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS ASNKYGLATE 

        70         80         90        100        110        120 
GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA EPMLAPAPAP AEATGAPGEA 

       130        140        150        160        170        180 
PAPAAELGES APSPKGSSSA ALNGPTPGAP DDPIGLFVMR PQDGEVTVGG SITFSARVAG 

       190        200        210        220        230        240 
ASLLKPPVVK WFKGKWVDLS SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE 

       250        260        270        280        290        300 
VSTKDKFDCS NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK 

       310        320        330        340        350        360 
KRDSFRTPRD SKLEAPAEED VWEILRQAPP SEYERIAFQY GVTDLRGMLK RLKGMRRDEK 

       370        380        390        400        410        420 
KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKNG QEIQMSGSKY IFESIGAKRT 

       430        440        450        460        470        480 
LTISQCSLAD DAAYQCVVGG EKCSTELFVK EPPVLITRPL EDQLVMVGQR VEFECEVSEE 

       490        500        510        520        530        540 
GAQVKWLKDG VELTREETFK YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV 

       550        560        570        580        590        600 
QEKKLEVYQS IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK 

       610        620        630        640        650        660 
LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD CPGRIPDTIV 

       670        680        690        700        710        720 
VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD APEDTGDSDE WVFDKKLLCE 

       730        740        750        760        770        780 
TEGRVRVETT KDRSIFTVEG AEKEDEGVYT VTVKNPVGED QVNLTVKVID VPDAPAAPKI 

       790        800        810        820        830        840 
SNVGEDSCTV QWEPPAYDGG QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV 

       850        860        870        880        890        900 
VYEMRVYAVN AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG 

       910        920        930        940        950        960 
LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LFRVRAHNMA GPGAPVTTTE 

       970        980        990       1000       1010       1020 
PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK PRPQVTWTKE GQPLAGEEVS 

      1030       1040       1050       1060       1070       1080 
IRNSPTDTIL FIRAARRVHS GTYQVTVRIE NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL 

      1090       1100       1110       1120       1130       1140 
NVALEWKPPQ DVGNTELWGY TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF 

      1150       1160       1170       1180       1190       1200 
SQNMVGFSDR AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML 

      1210       1220       1230       1240       1250       1260 
CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI YVCRATNLQG 

      1270 
EARCECRLEV RVPQ 

« Hide

Isoform 2 [UniParc].

Checksum: A23FC20A513F4920
Show »

FASTA1,273140,703

References

« Hide 'large scale' references
[1]"Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?"
Gautel M., Zuffardi O., Freiburg A., Labeit S.
EMBO J. 14:1952-1960(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMH4 GLN-820.
Tissue: Heart.
[2]"Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy."
Carrier L., Bonne G., Bahrend E., Yu B., Richard P., Niel F., Hainque B., Cruaud C., Gary F., Labeit S., Bouhour J.-B., Dubourg O., Desnos M., Hagege A.A., Trent R.J., Komajda M., Fiszman M., Schwartz K.
Circ. Res. 80:427-434(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-542 AND GLN-820.
[3]"Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy."
Niimura H., Bachinski L.L., Sangwatanaroj S., Watkins H., Chudley A.E., McKenna W., Kristinsson A., Roberts R., Sole M., Maron B.J., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 338:1248-1257(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-451; GLN-495 AND GLN-502.
[4]NIEHS SNPs program
Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MET-158; ILE-189; GLY-236; GLN-281; TRP-382; VAL-383; THR-522; VAL-833; GLU-998 AND CYS-1048.
[5]Rieder M.J., Bertucci C., Stanaway I.B., Johnson E.J., Swanson J.E., Siegel D.L., da Ponte S.H., Igartua C., Patterson K., Nickerson D.A.
Submitted (NOV-2009) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]"Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy."
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., Schwartz K.
Nat. Genet. 11:438-440(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 640-694.
[9]"Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy."
Idowu S.M., Gautel M., Perkins S.J., Pfuhl M.
J. Mol. Biol. 329:745-761(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 641-770, CHARACTERIZATION OF VARIANTS HIS-654 AND LYS-755.
[10]"Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C)."
Ababou A., Zhou L., Gautel M., Pfuhl M.
J. Biomol. NMR 29:431-432(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 358-450, DISULFIDE BOND.
[11]"An investigation into the protonation states of the C1 domain of cardiac myosin-binding protein C."
Fisher S.J., Helliwell J.R., Khurshid S., Govada L., Redwood C., Squire J.M., Chayen N.E.
Acta Crystallogr. D 64:658-664(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.3 ANGSTROMS) OF 151-258.
[12]"Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy."
Govada L., Carpenter L., da Fonseca P.C., Helliwell J.R., Rizkallah P., Flashman E., Chayen N.E., Redwood C., Squire J.M.
J. Mol. Biol. 378:387-397(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.55 ANGSTROMS) OF 151-258.
[13]"Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1."
Ababou A., Rostkova E., Mistry S., Le Masurier C., Gautel M., Pfuhl M.
J. Mol. Biol. 384:615-630(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 151-260, ZINC-BINDING SITE.
[14]"Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene."
Yu B., French J.A., Carrier L., Jeremy R.W., McTaggart D.R., Nicholson M.R., Hambly B., Semsarian C., Richmond D.R., Schwartz K., Trent R.J.
J. Med. Genet. 35:205-210(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH4 LYS-755.
[15]"Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy."
Moolman-Smook J.C., Mayosi B., Brink P., Corfield V.A.
J. Med. Genet. 35:253-254(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH4 HIS-654.
[16]"The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events."
Moolman-Smook J.C., De Lange W.J., Bruwer E.C.D., Brink P.A., Corfield V.A.
Am. J. Hum. Genet. 65:1308-1320(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-896.
[17]"Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations."
Maron B.J., Niimura H., Casey S.A., Soper M.K., Wright G.B., Seidman J.G., Seidman C.E.
J. Am. Coll. Cardiol. 38:315-321(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH4 GLN-495, VARIANT GLN-326.
[18]"Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy."
Erdmann J., Raible J., Maki-Abadi J., Hummel M., Hammann J., Wollnik B., Frantz E., Fleck E., Hetzer R., Regitz-Zagrosek V.
J. Am. Coll. Cardiol. 38:322-330(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 TRP-282; ARG-507; ARG-566 AND ILE-1115.
[19]"Novel mutations in sarcomeric protein genes in dilated cardiomyopathy."
Daehmlow S., Erdmann J., Knueppel T., Gille C., Froemmel C., Hummel M., Hetzer R., Regitz-Zagrosek V.
Biochem. Biophys. Res. Commun. 298:116-120(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH4 THR-948, VARIANTS GLY-236 AND GLN-326.
[20]"Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly."
Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., Seidman C.E.
Circulation 105:446-451(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 ALA-59 AND GLN-1002, VARIANT GLN-326.
[21]"Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
Nanni L., Pieroni M., Chimenti C., Simionati B., Zimbello R., Maseri A., Frustaci A., Lanfranchi G.
Biochem. Biophys. Res. Commun. 309:391-398(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 LYS-258; HIS-810; GLN-820 AND HIS-873.
[22]"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 PRO-257; LYS-258; GLU-278; ALA-279; PRO-352; TRP-502; LYS-504 DEL; GLN-542; ARG-811; VAL-833; THR-1194 AND THR-1255, VARIANTS GLN-326 AND MET-896.
[23]Erratum
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
Circulation 109:3258-3258(2004)
[24]"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."
Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V.
Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 LYS-258; TRP-282; ARG-507; TRP-523; ARG-566; PRO-668; VAL-833 AND ILE-1115, VARIANTS GLY-236 AND GLN-326.
[25]"The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands."
Alders M., Jongbloed R., Deelen W., van den Wijngaard A., Doevendans P., Ten Cate F., Regitz-Zagrosek V., Vosberg H.-P., van Langen I., Wilde A., Dooijes D., Mannens M.
Eur. Heart J. 24:1848-1853(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 SER-161; LYS-258; ASN-605; THR-833; TRP-834 AND THR-1131.
[26]"A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients."
Konno T., Shimizu M., Ino H., Matsuyama T., Yamaguchi M., Terai H., Hayashi K., Mabuchi T., Kiyama M., Sakata K., Hayashi T., Inoue M., Kaneda T., Mabuchi H.
J. Am. Coll. Cardiol. 41:781-786(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH4 GLN-820.
[27]"Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., Waldenstroem A.
J. Mol. Cell. Cardiol. 35:841-849(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 SER-237; HIS-668 AND THR-833, VARIANTS GLN-326 AND MET-896.
[28]"Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency."
Andersen P.S., Havndrup O., Bundgaard H., Larsen L.A., Vuust J., Pedersen A.K., Kjeldsen K., Christiansen M.
Eur. J. Hum. Genet. 12:673-677(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 ASN-228; LYS-258; LYS-813 DEL AND THR-833.
[29]"Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy."
Van Driest S.L., Vasile V.C., Ommen S.R., Will M.L., Tajik A.J., Gersh B.J., Ackerman M.J.
J. Am. Coll. Cardiol. 44:1903-1910(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 ARG-5; LEU-219; ILE-256; LYS-258; HIS-458; ARG-490; GLN-495; TRP-502; GLN-542; VAL-604; ASN-605; LEU-608; CYS-733; ASN-770; ARG-792; HIS-810; LYS-811 DEL; THR-833; GLU-998; ARG-998; ILE-1113 AND THR-1131, VARIANTS MET-158; GLY-236; GLN-326; TRP-382; SER-416; ARG-507; MET-545 AND MET-896.
[30]"Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy."
Hayashi T., Arimura T., Itoh-Satoh M., Ueda K., Hohda S., Inagaki N., Takahashi M., Hori H., Yasunami M., Nishi H., Koga Y., Nakamura H., Matsuzaki M., Choi B.Y., Bae S.W., You C.W., Han K.H., Park J.E. expand/collapse author list , Knoell R., Hoshijima M., Chien K.R., Kimura A.
J. Am. Coll. Cardiol. 44:2192-2201(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLY-236.
[31]"Mutations profile in Chinese patients with hypertrophic cardiomyopathy."
Song L., Zou Y., Wang J., Wang Z., Zhen Y., Lou K., Zhang Q., Wang X., Wang H., Li J., Hui R.
Clin. Chim. Acta 351:209-216(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 LYS-258; ARG-263; SER-417; HIS-669 AND ASP-759.
[32]"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."
Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C.
J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 HIS-273; TRP-502 AND GLN-542, VARIANT GLN-326.
[33]"Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene."
Ehlermann P., Weichenhan D., Zehelein J., Steen H., Pribe R., Zeller R., Lehrke S., Zugck C., Ivandic B.T., Katus H.A.
BMC Med. Genet. 9:95-95(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 LYS-258; CYS-272; VAL-336; GLN-495; GLN-502; SER-957 AND ILE-958.
[34]"Shared genetic causes of cardiac hypertrophy in children and adults."
Morita H., Rehm H.L., Menesses A., McDonough B., Roberts A.E., Kucherlapati R., Towbin J.A., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 358:1899-1908(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH4 GLU-278; ARG-490; GLY-495; GLN-502; TRP-502; ASN-605; SER-1028 AND ARG-1248, VARIANTS MET-158; GLY-236; GLN-326; MET-896 AND TRP-1002.
[35]"Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy."
Hershberger R.E., Norton N., Morales A., Li D., Siegfried J.D., Gonzalez-Quintana J.
Circ. Cardiovasc. Genet. 3:155-161(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1MM ARG-490; THR-833 AND PHE-1264.
[36]"Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype."
Probst S., Oechslin E., Schuler P., Greutmann M., Boye P., Knirsch W., Berger F., Thierfelder L., Jenni R., Klaassen S.
Circ. Cardiovasc. Genet. 4:367-374(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LVNC10 ARG-490 AND LEU-873.
[37]"Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy."
Wang Y., Wang Z., Yang Q., Zou Y., Zhang H., Yan C., Feng X., Chen Y., Zhang Y., Wang J., Zhou X., Ahmad F., Hui R., Song L.
PLoS ONE 8:E67087-E67087(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH4 VAL-490.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X84075 mRNA. Translation: CAA58882.1.
Y10129 Genomic DNA. Translation: CAA71216.1.
U91629 Genomic DNA. Translation: AAC04620.1.
AY518390 Genomic DNA. Translation: AAR89909.1.
GU324918 Genomic DNA. Translation: ADL14489.1.
AC090582 Genomic DNA. No translation available.
BC136543 mRNA. Translation: AAI36544.1.
BC136546 mRNA. Translation: AAI36547.1.
BC142685 mRNA. Translation: AAI42686.1.
BC151211 mRNA. Translation: AAI51212.1.
S80778 mRNA. Translation: AAB35662.1.
PIRS55050.
RefSeqNP_000247.2. NM_000256.3.
UniGeneHs.524906.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1GXENMR-A641-770[»]
1PD6NMR-A358-451[»]
2AVGNMR-A151-260[»]
2K1MNMR-A2-96[»]
2V6HX-ray1.55A151-258[»]
3CX2X-ray1.30A151-258[»]
ProteinModelPortalQ14896.
SMRQ14896. Positions 2-258, 319-353, 358-1168, 1181-1271.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110692. 9 interactions.
IntActQ14896. 3 interactions.
MINTMINT-6174801.
STRING9606.ENSP00000382193.

PTM databases

PhosphoSiteQ14896.

Polymorphism databases

DMDM425906074.

2D gel databases

UCD-2DPAGEQ14896.

Proteomic databases

PaxDbQ14896.
PRIDEQ14896.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256993; ENSP00000256993; ENSG00000134571.
ENST00000545968; ENSP00000442795; ENSG00000134571. [Q14896-1]
GeneID4607.
KEGGhsa:4607.
UCSCuc021qir.1. human. [Q14896-1]

Organism-specific databases

CTD4607.
GeneCardsGC11M048799.
HGNCHGNC:7551. MYBPC3.
HPAHPA040147.
HPA043898.
MIM115197. phenotype.
600958. gene.
615396. phenotype.
neXtProtNX_Q14896.
Orphanet154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBPA31351.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000220906.
HOVERGENHBG052560.
KOK12568.
OMAEIQMSGS.
OrthoDBEOG7WX07H.
TreeFamTF351819.

Enzyme and pathway databases

ReactomeREACT_17044. Muscle contraction.

Gene expression databases

ArrayExpressQ14896.
BgeeQ14896.
CleanExHS_MYBPC3.
GenevestigatorQ14896.

Family and domain databases

Gene3D2.60.40.10. 11 hits.
InterProIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF00041. fn3. 3 hits.
PF07679. I-set. 8 hits.
[Graphical view]
SMARTSM00060. FN3. 3 hits.
SM00409. IG. 7 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
PROSITEPS50853. FN3. 3 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMYBPC3. human.
EvolutionaryTraceQ14896.
GeneWikiMyosin_binding_protein_C,_cardiac.
GenomeRNAi4607.
NextBio17732.
PROQ14896.
SOURCESearch...

Entry information

Entry nameMYPC3_HUMAN
AccessionPrimary (citable) accession number: Q14896
Secondary accession number(s): A5PL00 expand/collapse secondary AC list , Q16410, Q6R2F7, Q9UE27, Q9UM53
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 28, 2012
Last modified: April 16, 2014
This is version 149 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM