MYH11
entrez
4629
canonical
uniprot
P35749
canonical
ensembl
ENSG00000133392
resolver
ensembl
ENSG00000276480
resolver
ensp
ENSP00000300036
resolver
ensp
ENSP00000379616
resolver
ensp
ENSP00000407821
resolver
ensp
ENSP00000458731
resolver
genesymbol
MYH11
resolver
genesymbol_syn
KIAA0866
resolver
hgnc
HGNC:7569
resolver
uniprot
A0A024QZJ4
resolver
uniprot
D2JYH7
resolver
uniprot
O00396
resolver
uniprot
O94944
resolver
uniprot
P78422
resolver
uniprot
Q3MIV8
resolver
uniprot
Q3MNF0
resolver
uniprot
Q3MNF1
resolver
uniprot_entry
A0A024QZJ4_HUMAN
resolver
uniprot_entry
MYH11_HUMAN
resolver
uniprot_sec
D2JYH7
resolver
uniprot_sec
O00396
resolver
uniprot_sec
O94944
resolver
uniprot_sec
P78422
resolver
uniprot_sec
Q3MIV8
resolver
uniprot_sec
Q3MNF0
resolver
uniprot_sec
Q3MNF1
resolver
amino_acid_sequence
MAQKGQLSDDEKFLFVDKNFINSPVAQADWAAKRLVWVPSEKQGFEAASIKEEKGDEVVVELVENGKKVTVGKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLRERYFSGLIYTYSGLFCVVVNPYKHLPIYSEKIVDMYKGKKRHEMPPHIYAIADTAYRSMLQDREDQSILCTGESGAGKTENTKKVIQYLAVVASSHKGKKDTSITGELEKQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVTGYIVGANIETYLLEKSRAIRQARDERTFHIFYYMIAGAKEKMRSDLLLEGFNNYTFLSNGFVPIPAAQDDEMFQETVEAMAIMGFSEEEQLSILKVVSSVLQLGNIVFKKERNTDQASMPDNTAAQKVCHLMGINVTDFTRSILTPRIKVGRDVVQKAQTKEQADFAVEALAKATYERLFRWILTRVNKALDKTHRQGASFLGILDIAGFEIFEVNSFEQLCINYTNEKLQQLFNHTMFILEQEEYQREGIEWNFIDFGLDLQPCIELIERPNNPPGVLALLDEECWFPKATDKSFVEKLCTEQGSHPKFQKPKQLKDKTEFSIIHYAGKVDYNASAWLTKNMDPLNDNVTSLLNASSDKFVADLWKDVDRIVGLDQMAKMTESSLPSASKTKKGMFRTVGQLYKEQLGKLMTTLRNTTPNFVRCIIPNHEKRSGKLDAFLVLEQLRCNGVLEGIRICRQGFPNRIVFQEFRQRYEILAANAIPKGFMDGKQACILMIKALELDPNLYRIGQSKIFFRTGVLAHLEEERDLKITDVIMAFQAMCRGYLARKAFAKRQQQLTAMKVIQRNCAAYLKLRNWQWWRLFTKVKPLLQVTRQEEEMQAKEDELQKTKERQQKAENELKELEQKHSQLTEEKNLLQEQLQAETELYAEAEEMRVRLAAKKQELEEILHEMEARLEEEEDRGQQLQAERKKMAQQMLDLEEQLEEEEAARQKLQLEKVTAEAKIKKLEDEILVMDDQNNKLSKERKLLEERISDLTTNLAEEEEKAKNLTKLKNKHESMISELEVRLKKEEKSRQELEKLKRKLEGDASDFHEQIADLQAQIAELKMQLAKKEEELQAALARLDDEIAQKNNALKKIRELEGHISDLQEDLDSERAARNKAEKQKRDLGEELEALKTELEDTLDSTATQQELRAKREQEVTVLKKALDEETRSHEAQVQEMRQKHAQAVEELTEQLEQFKRAKANLDKNKQTLEKENADLAGELRVLGQAKQEVEHKKKKLEAQVQELQSKCSDGERARAELNDKVHKLQNEVESVTGMLNEAEGKAIKLAKDVASLSSQLQDTQELLQEETRQKLNVSTKLRQLEEERNSLQDQLDEEMEAKQNLERHISTLNIQLSDSKKKLQDFASTVEALEEGKKRFQKEIENLTQQYEEKAAAYDKLEKTKNRLQQELDDLVVDLDNQRQLVSNLEKKQRKFDQLLAEEKNISSKYADERDRAEAEAREKETKALSLARALEEALEAKEELERTNKMLKAEMEDLVSSKDDVGKNVHELEKSKRALETQMEEMKTQLEELEDELQATEDAKLRLEVNMQALKGQFERDLQARDEQNEEKRRQLQRQLHEYETELEDERKQRALAAAAKKKLEGDLKDLELQADSAIKGREEAIKQLRKLQAQMKDFQRELEDARASRDEIFATAKENEKKAKSLEADLMQLQEDLAAAERARKQADLEKEELAEELASSLSGRNALQDEKRRLEARIAQLEEELEEEQGNMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSKLHEMEGAVKSKFKSTIAALEAKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVEDERKMAEQYKEQAEKGNARVKQLKRQLEEAEEESQRINANRRKLQRELDEATESNEAMGREVNALKSKLRRGNETSFVPSRRSGGRRVIENADGSEEETDTRDADFNGTKASE
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) and the tail region of MYH11.; DISEASE: Aortic aneurysm, familial thoracic 4 (AAT4) [MIM:132900]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269|PubMed:16444274}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MMIHS2) [MIM:619351]: A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS2 inheritance is autosomal recessive. {ECO:0000269|PubMed:25407000, ECO:0000269|PubMed:29575632, ECO:0000269|PubMed:31427716}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Visceral myopathy 2 (VSCM2) [MIM:619350]: A form of visceral myopathy, a gastrointestinal pseudo-obstruction disorder characterized by impaired function of enteric smooth muscle cells, intestinal dysmotility and paresis, severe abdominal pain, and malnutrition. The disease shows inter- and intrafamilial variability. VSCM2 inheritance is autosomal dominant. {ECO:0000269|PubMed:31389005, ECO:0000269|PubMed:31944481}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Muscle contraction.
uniprot
proteins
mass_dalton
227339
uniprot
proteins
protein_family
Myosin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16000639
uniprot
proteins
pubmed
16444274
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25407000
uniprot
proteins
pubmed
29575632
uniprot
proteins
pubmed
29781137
uniprot
proteins
pubmed
31389005
uniprot
proteins
pubmed
31427716
uniprot
proteins
pubmed
31944481
uniprot
proteins
pubmed
7684189
uniprot
proteins
sequence_length
1972
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.
uniprot
proteins