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MGP001994

UniProt Annotations

Entry Information
Gene Namemyosin binding protein C, slow type
Protein EntryMYPC1_HUMAN
UniProt IDQ00872
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=10; Name=1; IsoId=Q00872-1; Sequence=Displayed; Name=2; IsoId=Q00872-2; Sequence=VSP_039105, VSP_039106; Name=3; IsoId=Q00872-3; Sequence=VSP_039106; Name=4; IsoId=Q00872-4; Sequence=VSP_039105, VSP_039106, VSP_045241; Note=No experimental confirmation available.; Name=5; IsoId=Q00872-5; Sequence=VSP_046736, VSP_039106, VSP_045241; Name=6; IsoId=Q00872-6; Sequence=VSP_046740; Name=7; IsoId=Q00872-7; Sequence=VSP_046737, VSP_039106, VSP_046739; Name=8; IsoId=Q00872-8; Sequence=VSP_046735, VSP_039106, VSP_045241; Name=9; IsoId=Q00872-9; Sequence=VSP_046738, VSP_039106, VSP_045241; Name=10; IsoId=Q00872-10; Sequence=VSP_039106, VSP_045241;
DiseaseArthrogryposis, 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:0000269|PubMed:20045868}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLethal 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:0000269|PubMed:22610851}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThick 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.
InteractionO75923:DYSF; NbExp=4; IntAct=EBI-5652924, EBI-2799016; Q14324:MYBPC2; NbExp=3; IntAct=EBI-5652924, EBI-5653200;
SimilarityBelongs to the immunoglobulin superfamily. MyBP family. {ECO:0000305}.
SimilarityContains 3 fibronectin type-III domains. {ECO:0000255|PROSITE-ProRule:PRU00316}.
SimilarityContains 7 Ig-like C2-type (immunoglobulin-like) domains. {ECO:0000305}.
SubunitInteracts with USP25 (isoform USP25m only); the interaction prevents proteasomal degradation of MYBPC1. {ECO:0000269|PubMed:16501887}.
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