Version 5.4
Homo sapiens Gene: MYBPC1
Summary
InnateDB Gene IDBG-53185.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYBPC1
Gene Name myosin binding protein C, slow type
Synonyms LCCS4; MYBPCC; MYBPCS
Species Homo sapiens
Ensembl Gene ENSG00000196091
Encoded Proteins
IDBP-53187
myosin binding protein C, slow type
IDBP-53189
myosin binding protein C, slow type
IDBP-244596
myosin binding protein C, slow type
IDBP-381915
myosin binding protein C, slow type
IDBP-381923
myosin binding protein C, slow type
IDBP-584651
myosin binding protein C, slow type
IDBP-591320
myosin binding protein C, slow type
IDBP-583399
myosin binding protein C, slow type
IDBP-593819
myosin binding protein C, slow type
IDBP-602705
myosin binding protein C, slow type
IDBP-588670
myosin binding protein C, slow type
IDBP-589728
myosin binding protein C, slow type
IDBP-584215
myosin binding protein C, slow type
IDBP-594332
myosin binding protein C, slow type
IDBP-586384
myosin binding protein C, slow type
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:101568353-101686018
Strand Forward strand
Band q23.2
Transcripts
ENST00000361466 ENSP00000354849
ENST00000361685 ENSP00000354845
ENST00000392934 ENSP00000376665
ENST00000452455 ENSP00000400908
ENST00000441232 ENSP00000388989
ENST00000550514 ENSP00000447404
ENST00000547405 ENSP00000448175
ENST00000547627
ENST00000547509 ENSP00000447362
ENST00000550501
ENST00000549145 ENSP00000447660
ENST00000553190 ENSP00000447900
ENST00000545503 ENSP00000440034
ENST00000536007 ENSP00000446128
ENST00000541119 ENSP00000442847
ENST00000551300 ENSP00000447116
ENST00000550270 ENSP00000449702
ENST00000552198
ENST00000550312
ENST00000548834
ENST00000550812
ENST00000548298
ENST00000548532
ENST00000549608
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
GO:0031432 titin binding
Biological Process
GO:0006936 muscle contraction
GO:0007155 cell adhesion
GO:0030049 muscle filament sliding
Cellular Component
GO:0005829 cytosol
GO:0030016 myofibril
GO:0032982 myosin filament
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020061
View Gene Order
ENSBTAG00000011392
Not yet available
Pathways
NETPATH
REACTOME
REACT_16969
Striated Muscle Contraction pathway
REACT_17044
Muscle contraction pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.654589
RefSeq NM_001254718 NM_001254719 NM_001254720 NM_001254721 NM_001254722 NM_001254723 NM_002465 NM_206819 NM_206820 NM_206821 XM_005268876 XM_006719407 XM_006719408 XM_006719409 XM_006719410 XM_006719411
HUGO
OMIM
CCDS CCDS55877 CCDS58268 CCDS58269 CCDS58270 CCDS58271 CCDS58272 CCDS58273 CCDS9083 CCDS9084 CCDS9085
HPRD 01185
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca