MYBPC1
entrez
4604
canonical
uniprot
Q00872
canonical
ensembl
ENSG00000196091
resolver
ensp
ENSP00000354845
resolver
ensp
ENSP00000354849
resolver
ensp
ENSP00000376665
resolver
ensp
ENSP00000400908
resolver
ensp
ENSP00000440034
resolver
ensp
ENSP00000442847
resolver
ensp
ENSP00000446128
resolver
ensp
ENSP00000447900
resolver
ensp
ENSP00000448175
resolver
ensp
ENSP00000449702
resolver
ensp
ENSP00000642032
resolver
ensp
ENSP00000642034
resolver
ensp
ENSP00000699443
resolver
ensp
ENSP00000699450
resolver
ensp
ENSP00000699458
resolver
ensp
ENSP00000699463
resolver
ensp
ENSP00000699469
resolver
genesymbol
MYBPC1
resolver
genesymbol_syn
MYBPCS
resolver
hgnc
HGNC:7549
resolver
uniprot
A8KAB1
resolver
uniprot
B3KPP3
resolver
uniprot
B4DKR5
resolver
uniprot
B7Z8G8
resolver
uniprot
B7ZL02
resolver
uniprot
B7ZL09
resolver
uniprot
B7ZL10
resolver
uniprot
E7ESM5
resolver
uniprot
E7EWS6
resolver
uniprot
G3XAE8
resolver
uniprot
Q15497
resolver
uniprot
Q17RR7
resolver
uniprot
Q569K7
resolver
uniprot
Q86T48
resolver
uniprot
Q86TC8
resolver
uniprot
Q8N3L2
resolver
uniprot_entry
A8KAB1_HUMAN
resolver
uniprot_entry
B3KPP3_HUMAN
resolver
uniprot_entry
MYPC1_HUMAN
resolver
uniprot_sec
B4DKR5
resolver
uniprot_sec
B7Z8G8
resolver
uniprot_sec
B7ZL02
resolver
uniprot_sec
B7ZL09
resolver
uniprot_sec
B7ZL10
resolver
uniprot_sec
E7ESM5
resolver
uniprot_sec
E7EWS6
resolver
uniprot_sec
G3XAE8
resolver
uniprot_sec
Q15497
resolver
uniprot_sec
Q17RR7
resolver
uniprot_sec
Q569K7
resolver
uniprot_sec
Q86T48
resolver
uniprot_sec
Q86TC8
resolver
uniprot_sec
Q8N3L2
resolver
amino_acid_sequence
MPEPTKKEENEVPAPAPPPEEPSKEKEAGTTPAKDWTLVETPPGEEQAKQNANSQLSILFIEKPQGGTVKVGEDITFIAKVKAEDLLRKPTIKWFKGKWMDLASKAGKHLQLKETFERHSRVYTFEMQIIKAKDNFAGNYRCEVTYKDKFDSCSFDLEVHESTGTTPNIDIRSAFKRSGEGQEDAGELDFSGLLKRREVKQQEEEPQVDVWELLKNAKPSEYEKIAFQYGITDLRGMLKRLKRMRREEKKSAAFAKILDPAYQVDKGGRVRFVVELADPKLEVKWYKNGQEIRPSTKYIFEHKGCQRILFINNCQMTDDSEYYVTAGDEKCSTELFVREPPIMVTKQLEDTTAYCGERVELECEVSEDDANVKWFKNGEEIIPGPKSRYRIRVEGKKHILIIEGATKADAAEYSVMTTGGQSSAKLSVDLKPLKILTPLTDQTVNLGKEICLKCEISENIPGKWTKNGLPVQESDRLKVVHKGRIHKLVIANALTEDEGDYVFAPDAYNVTLPAKVHVIDPPKIILDGLDADNTVTVIAGNKLRLEIPISGEPPPKAMWSRGDKAIMEGSGRIRTESYPDSSTLVIDIAERDDSGVYHINLKNEAGEAHASIKVKVVDFPDPPVAPTVTEVGDDWCIMNWEPPAYDGGSPILGYFIERKKKQSSRWMRLNFDLCKETTFEPKKMIEGVAYEVRIFAVNAIGISKPSMPSRPFVPLAVTSPPTLLTVDSVTDTTVTMRWRPPDHIGAAGLDGYVLEYCFEGSTSAKQSDENGEAAYDLPAEDWIVANKDLIDKTKFTITGLPTDAKIFVRVKAVNAAGASEPKYYSQPILVKEIIEPPKIRIPRHLKQTYIRRVGEAVNLVIPFQGKPRPELTWKKDGAEIDKNQINIRNSETDTIIFIRKAERSHSGKYDLQVKVDKFVETASIDIQIIDRPGPPQIVKIEDVWGENVALTWTPPKDDGNAAITGYTIQKADKKSMEWFTVIEHYHRTSATITELVIGNEYYFRVFSENMCGLSEDATMTKESAVIARDGKIYKNPVYEDFDFSEAPMFTQPLVNTYAIAGYNATLNCSVRGNPKPKITWMKNKVAIVDDPRYRMFSNQGVCTLEIRKPSPYDGGTYCCKAVNDLGTVEIECKLEVKVIAQ
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:20045868, ECO:0000269|PubMed:26661508}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:22610851}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital myopathy 16 (CMYO16) [MIM:618524]: An autosomal dominant muscular disorder characterized by muscle weakness, hypotonia associated with high-frequency postural tremor of the limbs, mildly delayed walking, and steppage gait. Additional features include skeletal deformities such as scoliosis, thoracic asymmetry and spinal rigidity. Some patients show mild facial dysmorphic features. Cognitive functions are normal. {ECO:0000269|PubMed:31025394, ECO:0000269|PubMed:31264822}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin (PubMed:31025394, PubMed:31264822). In vitro, binds to native thin filaments and modifies the activity of actin-activated myosin ATPase. May modulate muscle contraction or may play a more structural role. {ECO:0000269|PubMed:31025394, ECO:0000269|PubMed:31264822}.
uniprot
proteins
mass_dalton
128294
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
MyBP family
uniprot
proteins
pubmed
1429890
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16501887
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20045868
uniprot
proteins
pubmed
22610851
uniprot
proteins
pubmed
26661508
uniprot
proteins
pubmed
31025394
uniprot
proteins
pubmed
31264822
uniprot
proteins
pubmed
8375400
uniprot
proteins
sequence_length
1141
uniprot
proteins