InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYBPC1

Summary

InnateDB Protein

IDBP-586384.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYBPC1

Protein Name

myosin binding protein C, slow type

Synonyms

LCCS4; MYBPCC; MYBPCS;

Species

Homo sapiens

Ensembl Protein

ENSP00000449702

InnateDB Gene

IDBG-53185 (MYBPC1)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Disease Associations

Arthrogryposis, distal, 1B (DA1B) [MIM:614335]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. {ECO:0000269PubMed:20045868}. Note=The disease is caused by mutations affecting the gene represented in this entry.Lethal congenital contracture syndrome 4 (LCCS4) [MIM:614915]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269PubMed:22610851}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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:0007155	cell adhesion
GO:0030049	muscle filament sliding

Cellular Component

GO:0005829	cytosol
GO:0030016	myofibril
GO:0032982	myosin filament

Protein Structure and Domains

PDB ID

InterPro

IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR003961 Fibronectin, type III
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013151 Immunoglobulin

PFAM

PF00041
PF01108
PF07679
PF00047

PRINTS

PIRSF

SMART

SM00408
SM00409
SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q00872