• Gene id: 4604

Gene Summary

• Gene Symbol: MYBPC1   Gene   UCSC   Ensembl
• Aliases: LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C
• Gene name: myosin binding protein C1
• Alternate names: myosin-binding protein C, slow-type, C-protein, skeletal muscle slow isoform, myosin binding protein C, slow type, skeletal muscle C-protein, slow MyBP-C, slow skeletal-type muscle myosin-binding-protein C,
• Gene location: 12q23.2 (101594848: 101695840)     Exons: 34     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skel
• OMIM: 160794

Protein Summary

• Protein general information: Q00872  
  • Name: Myosin binding protein C, slow type (Slow MyBP C) (C protein, skeletal muscle slow isoform)
  • Length: 1141  
  • Mass: 128294
• Sequence:

  MPEPTKKEENEVPAPAPPPEEPSKEKEAGTTPAKDWTLVETPPGEEQAKQNANSQLSILFIEKPQGGTVKVGEDI
  TFIAKVKAEDLLRKPTIKWFKGKWMDLASKAGKHLQLKETFERHSRVYTFEMQIIKAKDNFAGNYRCEVTYKDKF
  DSCSFDLEVHESTGTTPNIDIRSAFKRSGEGQEDAGELDFSGLLKRREVKQQEEEPQVDVWELLKNAKPSEYEKI
  AFQYGITDLRGMLKRLKRMRREEKKSAAFAKILDPAYQVDKGGRVRFVVELADPKLEVKWYKNGQEIRPSTKYIF
  EHKGCQRILFINNCQMTDDSEYYVTAGDEKCSTELFVREPPIMVTKQLEDTTAYCGERVELECEVSEDDANVKWF
  KNGEEIIPGPKSRYRIRVEGKKHILIIEGATKADAAEYSVMTTGGQSSAKLSVDLKPLKILTPLTDQTVNLGKEI
  CLKCEISENIPGKWTKNGLPVQESDRLKVVHKGRIHKLVIANALTEDEGDYVFAPDAYNVTLPAKVHVIDPPKII
  LDGLDADNTVTVIAGNKLRLEIPISGEPPPKAMWSRGDKAIMEGSGRIRTESYPDSSTLVIDIAERDDSGVYHIN
  LKNEAGEAHASIKVKVVDFPDPPVAPTVTEVGDDWCIMNWEPPAYDGGSPILGYFIERKKKQSSRWMRLNFDLCK
  ETTFEPKKMIEGVAYEVRIFAVNAIGISKPSMPSRPFVPLAVTSPPTLLTVDSVTDTTVTMRWRPPDHIGAAGLD
  GYVLEYCFEGSTSAKQSDENGEAAYDLPAEDWIVANKDLIDKTKFTITGLPTDAKIFVRVKAVNAAGASEPKYYS
  QPILVKEIIEPPKIRIPRHLKQTYIRRVGEAVNLVIPFQGKPRPELTWKKDGAEIDKNQINIRNSETDTIIFIRK
  AERSHSGKYDLQVKVDKFVETASIDIQIIDRPGPPQIVKIEDVWGENVALTWTPPKDDGNAAITGYTIQKADKKS
  MEWFTVIEHYHRTSATITELVIGNEYYFRVFSENMCGLSEDATMTKESAVIARDGKIYKNPVYEDFDFSEAPMFT
  QPLVNTYAIAGYNATLNCSVRGNPKPKITWMKNKVAIVDDPRYRMFSNQGVCTLEIRKPSPYDGGTYCCKAVNDL
  GTVEIECKLEVKVIAQ

• Structural information:
  • Protein Domains: (72..14-)
    1 (/note="Ig-like-C2-type)
    (251..34-)
    2 (/note="Ig-like-C2-type)
    (341..43-)
    3 (/note="Ig-like-C2-type)
    (432..52-)
    4 (/note="Ig-like-C2-type)
    (522..61-)
    5 (/note="Ig-like-C2-type)
    (622..72-)
    (/note="Fibron-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR040849  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 1X44 2DAV 2YUV 2YUW 2YUX 2YUZ 2YXM
  • PDBsum: 1X44 2DAV 2YUV 2YUW 2YUX 2YUZ 2YXM
  • STRING: ENSP00000400908
• Other Databases: GeneCards:  MYBPC1  Malacards:  MYBPC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0032982	myosin filament	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0008307	structural constituent of muscle	TAS	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006936	muscle contraction	IEA	biological process
GO:0031432	titin binding	ISS	molecular function
GO:0030016	myofibril	ISS	cellular component

Diseases

Associated diseases	References
Distal arthrogryposis	KEGG:H00811
Lethal congenital contractural syndrome	KEGG:H00865
Distal arthrogryposis	KEGG:H00811
Lethal congenital contractural syndrome	KEGG:H00865
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R