MYH3
entrez
4621
canonical
uniprot
P11055
canonical
ensembl
ENSG00000109063
resolver
ensp
ENSP00000464317
resolver
ensp
ENSP00000631253
resolver
enst
ENST00000583535
resolver
enst
ENST00000961194
resolver
genesymbol
MYH3
resolver
hgnc
HGNC:7573
resolver
uniprot
Q15492
resolver
uniprot
Q5GJ67
resolver
uniprot_entry
MYH3_HUMAN
resolver
uniprot_entry
Q5GJ67_HUMAN
resolver
uniprot_sec
Q15492
resolver
amino_acid_sequence
MSSDTEMEVFGIAAPFLRKSEKERIEAQNQPFDAKTYCFVVDSKEEYAKGKIKSSQDGKVTVETEDNRTLVVKPEDVYAMNPPKFDRIEDMAMLTHLNEPAVLYNLKDRYTSWMIYTYSGLFCVTVNPYKWLPVYNPEVVEGYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAATGDLAKKKDSKMKGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQILSNKKPELIELLLITTNPYDYPFISQGEILVASIDDAEELLATDSAIDILGFTPEEKSGLYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKTAYLMGLNSSDLLKALCFPRVKVGNEYVTKGQTVDQVHHAVNALSKSVYEKLFLWMVTRINQQLDTKLPRQHFIGVLDIAGFEIFEYNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGKSNNFQKPKVVKGRAEAHFSLIHYAGTVDYSVSGWLEKNKDPLNETVVGLYQKSSNRLLAHLYATFATADADSGKKKVAKKKGSSFQTVSALFRENLNKLMSNLRTTHPHFVRCIIPNETKTPGAMEHSLVLHQLRCNGVLEGIRICRKGFPNRILYGDFKQRYRVLNASAIPEGQFIDSKKACEKLLASIDIDHTQYKFGHTKVFFKAGLLGTLEEMRDDRLAKLITRTQAVCRGFLMRVEFQKMVQRRESIFCIQYNIRSFMNVKHWPWMKLFFKIKPLLKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKLVTLVQEKNDLQLQVQAESENLLDAEERCDQLIKAKFQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEELSGLDETIAKLTREKKALQEAHQQALDDLQAEEDKVNSLNKTKSKLEQQVEDLESSLEQEKKLRVDLERNKRKLEGDLKLAQESILDLENDKQQLDERLKKKDFEYCQLQSKVEDEQTLGLQFQKKIKELQARIEELEEEIEAERATRAKTEKQRSDYARELEELSERLEEAGGVTSTQIELNKKREAEFLKLRRDLEEATLQHEAMVAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLEIDDLSSSMESVSKSKANLEKICRTLEDQLSEARGKNEEIQRSLSELTTQKSRLQTEAGELSRQLEEKESIVSQLSRSKQAFTQQTEELKRQLEEENKAKNALAHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDSEEQVEAVNAKCASLEKTKQRLQGEVEDLMVDVERANSLAAALDKKQRNFDKVLAEWKTKCEESQAELEASLKESRSLSTELFKLKNAYEEALDQLETVKRENKNLEQEIADLTEQIAENGKTIHELEKSRKQIELEKADIQLALEEAEAALEHEEAKILRIQLELTQVKSEIDRKIAEKDEEIEQLKRNYQRTVETMQSALDAEVRSRNEAIRLKKKMEGDLNEIEIQLSHANRQAAETLKHLRSVQGQLKDTQLHLDDALRGQEDLKEQLAIVERRANLLQAEVEELRATLEQTERARKLAEQELLDSNERVQLLHTQNTSLIHTKKKLETDLMQLQSEVEDASRDARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLETRIRELEFELEGEQKKNTESVKGLRKYERRVKELTYQSEEDRKNVLRLQDLVDKLQVKVKSYKRQAEEADEQANAHLTKFRKAQHELEEAEERADIAESQVNKLRAKTRDFTSSRMVVHESEE
uniprot
proteins
disease_involvement
DISEASE: Arthrogryposis, distal, 2A (DA2A) [MIM:193700]: 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. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin. {ECO:0000269|PubMed:16642020, ECO:0000269|PubMed:18695058}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Arthrogryposis, distal, 2B3 (DA2B3) [MIM:618436]: 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 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant. {ECO:0000269|PubMed:16642020, ECO:0000269|PubMed:18695058}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A) [MIM:178110]: An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported. {ECO:0000269|PubMed:25957469, ECO:0000269|PubMed:27381093, ECO:0000269|PubMed:29314551}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B) [MIM:618469]: An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed. {ECO:0000269|PubMed:29805041}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Muscle contraction.
uniprot
proteins
mass_dalton
223905
uniprot
proteins
protein_family
Myosin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16642020
uniprot
proteins
pubmed
1691980
uniprot
proteins
pubmed
18695058
uniprot
proteins
pubmed
25957469
uniprot
proteins
pubmed
2726495
uniprot
proteins
pubmed
27381093
uniprot
proteins
pubmed
2771643
uniprot
proteins
pubmed
2806546
uniprot
proteins
pubmed
29314551
uniprot
proteins
pubmed
29805041
uniprot
proteins
sequence_length
1940
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
uniprot
proteins