• Gene id: 4607

Gene Summary

• Gene Symbol: MYBPC3   Gene   UCSC   Ensembl
• Aliases: CMD1MM, CMH4, FHC, LVNC10, MYBP-C, cMyBP-C
• Gene name: myosin binding protein C3
• Alternate names: myosin-binding protein C, cardiac-type, C-protein, cardiac muscle isoform, myosin binding protein C, cardiac, truncated cardiac myosin-binding protein C,
• Gene location: 11p11.2 (58241680: 58159242)     Exons: 14     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 600958

Protein Summary

• Protein general information: Q14896  
  • Name: Myosin binding protein C, cardiac type (Cardiac MyBP C) (C protein, cardiac muscle isoform)
  • Length: 1274  
  • Mass: 140762
• Sequence:

  MPEPGKKPVSAFSKKPRSVEVAAGSPAVFEAETERAGVKVRWQRGGSDISASNKYGLATEGTRHTLTVREVGPAD
  QGSYAVIAGSSKVKFDLKVIEAEKAEPMLAPAPAPAEATGAPGEAPAPAAELGESAPSPKGSSSAALNGPTPGAP
  DDPIGLFVMRPQDGEVTVGGSITFSARVAGASLLKPPVVKWFKGKWVDLSSKVGQHLQLHDSYDRASKVYLFELH
  ITDAQPAFTGSYRCEVSTKDKFDCSNFNLTVHEAMGTGDLDLLSAFRRTSLAGGGRRISDSHEDTGILDFSSLLK
  KRDSFRTPRDSKLEAPAEEDVWEILRQAPPSEYERIAFQYGVTDLRGMLKRLKGMRRDEKKSTAFQKKLEPAYQV
  SKGHKIRLTVELADHDAEVKWLKNGQEIQMSGSKYIFESIGAKRTLTISQCSLADDAAYQCVVGGEKCSTELFVK
  EPPVLITRPLEDQLVMVGQRVEFECEVSEEGAQVKWLKDGVELTREETFKYRFKKDGQRHHLIINEAMLEDAGHY
  ALCTSGGQALAELIVQEKKLEVYQSIADLMVGAKDQAVFKCEVSDENVRGVWLKNGKELVPDSRIKVSHIGRVHK
  LTIDDVTPADEADYSFVPEGFACNLSAKLHFMEVKIDFVPRQEPPKIHLDCPGRIPDTIVVVAGNKLRLDVPISG
  DPAPTVIWQKAITQGNKAPARPAPDAPEDTGDSDEWVFDKKLLCETEGRVRVETTKDRSIFTVEGAEKEDEGVYT
  VTVKNPVGEDQVNLTVKVIDVPDAPAAPKISNVGEDSCTVQWEPPAYDGGQPILGYILERKKKKSYRWMRLNFDL
  IQELSHEARRMIEGVVYEMRVYAVNAIGMSRPSPASQPFMPIGPPSEPTHLAVEDVSDTTVSLKWRPPERVGAGG
  LDGYSVEYCPEGCSEWVAALQGLTEHTSILVKDLPTGARLLFRVRAHNMAGPGAPVTTTEPVTVQEILQRPRLQL
  PRHLRQTIQKKVGEPVNLLIPFQGKPRPQVTWTKEGQPLAGEEVSIRNSPTDTILFIRAARRVHSGTYQVTVRIE
  NMEDKATLVLQVVDKPSPPQDLRVTDAWGLNVALEWKPPQDVGNTELWGYTVQKADKKTMEWFTVLEHYRRTHCV
  VPELIIGNGYYFRVFSQNMVGFSDRAATTKEPVFIPRPGITYEPPNYKALDFSEAPSFTQPLVNRSVIAGYTAML
  CCAVRGSPKPKISWFKNGLDLGEDARFRMFSKQGVLTLEIRKPCPFDGGIYVCRATNLQGEARCECRLEVRVPQ

• Structural information:
  • Protein Domains: (153..25-)
    1 (/note="Ig-like-C2-type)
    (362..45-)
    2 (/note="Ig-like-C2-type)
    (453..54-)
    3 (/note="Ig-like-C2-type)
    (544..63-)
    4 (/note="Ig-like-C2-type)
    (645..77-)
    5 (/note="Ig-like-C2-type)
    (774..87-)
    (/note="Fibro-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR040849  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 1GXE 1PD6 2AVG 2K1M 2MQ0 2MQ3 2V6H 3CX2 5K6P 6CXI 6CXJ 6G2T
  • PDBsum: 1GXE 1PD6 2AVG 2K1M 2MQ0 2MQ3 2V6H 3CX2 5K6P 6CXI 6CXJ 6G2T
  • STRING: ENSP00000442795
• Other Databases: GeneCards:  MYBPC3  Malacards:  MYBPC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0032036	myosin heavy chain binding	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0032982	myosin filament	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0031672	A band	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0006942	regulation of striated muscle contraction	IEA	biological process
GO:0005863	striated muscle myosin thick filament	IEA	cellular component
GO:0008307	structural constituent of muscle	IMP	molecular function
GO:0031432	titin binding	NAS	molecular function
GO:0017022	myosin binding	IDA	molecular function
GO:0001671	ATPase activator activity	ISS	molecular function
GO:0032036	myosin heavy chain binding	IPI	molecular function
GO:0014705	C zone	NAS	cellular component
GO:0032971	regulation of muscle filament sliding	ISS	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0005863	striated muscle myosin thick filament	IDA	cellular component
GO:0030017	sarcomere	IDA	cellular component
GO:0031672	A band	IDA	cellular component
GO:0003007	heart morphogenesis	IMP	biological process
GO:0005863	striated muscle myosin thick filament	ISS	cellular component
GO:0006942	regulation of striated muscle contraction	ISS	biological process
GO:0032781	positive regulation of ATPase activity	ISS	biological process
GO:0060048	cardiac muscle contraction	ISS	biological process
GO:0097512	cardiac myofibril	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Hypertrophic cardiomyopathy	KEGG:H00292
Left ventricular noncompaction	KEGG:H01216
Dilated cardiomyopathy	KEGG:H00294
Hypertrophic cardiomyopathy	KEGG:H00292
Left ventricular noncompaction	KEGG:H01216
Familial hypertrophic cardiomyopathy	PMID:12110947
Familial hypertrophic cardiomyopathy	PMID:9048664
Familial hypertrophic cardiomyopathy	PMID:16004897
Familial hypertrophic cardiomyopathy	PMID:9562578
hypertrophic cardiomyopathy	PMID:15519027
hypertrophic cardiomyopathy	PMID:15737656
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq