MYH11

Protein identityUniProt · HPA

UniProt accession

P35749

Gene

MYH11

Ensembl

ENSG00000133392

Chromosome

16

Canonical length

1972 aa

Protein class

Cancer-related genes, Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Plasma membrane,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

1972 residues, UniProt reviewed canonical sequence.

>P35749|MYH11
     1  MAQKGQLSDD EKFLFVDKNF INSPVAQADW AAKRLVWVPS EKQGFEAASI KEEKGDEVVV
    61  ELVENGKKVT VGKDDIQKMN PPKFSKVEDM AELTCLNEAS VLHNLRERYF SGLIYTYSGL
   121  FCVVVNPYKH LPIYSEKIVD MYKGKKRHEM PPHIYAIADT AYRSMLQDRE DQSILCTGES
   181  GAGKTENTKK VIQYLAVVAS SHKGKKDTSI TGELEKQLLQ ANPILEAFGN AKTVKNDNSS
   241  RFGKFIRINF DVTGYIVGAN IETYLLEKSR AIRQARDERT FHIFYYMIAG AKEKMRSDLL
   301  LEGFNNYTFL SNGFVPIPAA QDDEMFQETV EAMAIMGFSE EEQLSILKVV SSVLQLGNIV
   361  FKKERNTDQA SMPDNTAAQK VCHLMGINVT DFTRSILTPR IKVGRDVVQK AQTKEQADFA
   421  VEALAKATYE RLFRWILTRV NKALDKTHRQ GASFLGILDI AGFEIFEVNS FEQLCINYTN
   481  EKLQQLFNHT MFILEQEEYQ REGIEWNFID FGLDLQPCIE LIERPNNPPG VLALLDEECW
   541  FPKATDKSFV EKLCTEQGSH PKFQKPKQLK DKTEFSIIHY AGKVDYNASA WLTKNMDPLN
   601  DNVTSLLNAS SDKFVADLWK DVDRIVGLDQ MAKMTESSLP SASKTKKGMF RTVGQLYKEQ
   661  LGKLMTTLRN TTPNFVRCII PNHEKRSGKL DAFLVLEQLR CNGVLEGIRI CRQGFPNRIV
   721  FQEFRQRYEI LAANAIPKGF MDGKQACILM IKALELDPNL YRIGQSKIFF RTGVLAHLEE
   781  ERDLKITDVI MAFQAMCRGY LARKAFAKRQ QQLTAMKVIQ RNCAAYLKLR NWQWWRLFTK
   841  VKPLLQVTRQ EEEMQAKEDE LQKTKERQQK AENELKELEQ KHSQLTEEKN LLQEQLQAET
   901  ELYAEAEEMR VRLAAKKQEL EEILHEMEAR LEEEEDRGQQ LQAERKKMAQ QMLDLEEQLE
   961  EEEAARQKLQ LEKVTAEAKI KKLEDEILVM DDQNNKLSKE RKLLEERISD LTTNLAEEEE
  1021  KAKNLTKLKN KHESMISELE VRLKKEEKSR QELEKLKRKL EGDASDFHEQ IADLQAQIAE
  1081  LKMQLAKKEE ELQAALARLD DEIAQKNNAL KKIRELEGHI SDLQEDLDSE RAARNKAEKQ
  1141  KRDLGEELEA LKTELEDTLD STATQQELRA KREQEVTVLK KALDEETRSH EAQVQEMRQK
  1201  HAQAVEELTE QLEQFKRAKA NLDKNKQTLE KENADLAGEL RVLGQAKQEV EHKKKKLEAQ
  1261  VQELQSKCSD GERARAELND KVHKLQNEVE SVTGMLNEAE GKAIKLAKDV ASLSSQLQDT
  1321  QELLQEETRQ KLNVSTKLRQ LEEERNSLQD QLDEEMEAKQ NLERHISTLN IQLSDSKKKL
  1381  QDFASTVEAL EEGKKRFQKE IENLTQQYEE KAAAYDKLEK TKNRLQQELD DLVVDLDNQR
  1441  QLVSNLEKKQ RKFDQLLAEE KNISSKYADE RDRAEAEARE KETKALSLAR ALEEALEAKE
  1501  ELERTNKMLK AEMEDLVSSK DDVGKNVHEL EKSKRALETQ MEEMKTQLEE LEDELQATED
  1561  AKLRLEVNMQ ALKGQFERDL QARDEQNEEK RRQLQRQLHE YETELEDERK QRALAAAAKK
  1621  KLEGDLKDLE LQADSAIKGR EEAIKQLRKL QAQMKDFQRE LEDARASRDE IFATAKENEK
  1681  KAKSLEADLM QLQEDLAAAE RARKQADLEK EELAEELASS LSGRNALQDE KRRLEARIAQ
  1741  LEEELEEEQG NMEAMSDRVR KATQQAEQLS NELATERSTA QKNESARQQL ERQNKELRSK
  1801  LHEMEGAVKS KFKSTIAALE AKIAQLEEQV EQEAREKQAA TKSLKQKDKK LKEILLQVED
  1861  ERKMAEQYKE QAEKGNARVK QLKRQLEEAE EESQRINANR RKLQRELDEA TESNEAMGRE
  1921  VNALKSKLRR GNETSFVPSR RSGGRRVIEN ADGSEEETDT RDADFNGTKA SE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYH11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

3,136 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYH11.

Disease | AllUniProt

Conditions MYH11 is implicated in, by any mechanism.

• Aortic aneurysm, familial thoracic 4 (AAT4) MIM:132900
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MMIHS2) MIM:619351
• Visceral myopathy 2 (VSCM2) MIM:619350

Disease | GeneticClinVar

75 pathogenic / likely-pathogenic of 4,192 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Aortic aneurysm, familial thoracic 4
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
• Familial thoracic aortic aneurysm and aortic dissection
• Visceral myopathy 1
• Mitral regurgitation

Disease | ImmuneIEDB

Conditions an epitope on MYH11 was assayed in.

• hepatitis C B cell
• autoimmune hepatitis B cell
• sclerosing cholangitis B cell
• Alagille syndrome B cell
• Wilson disease B cell
• alpha 1-antitrypsin deficiency B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.31

gnomAD pLI

0.77

gnomAD missense Z

1.44

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actomyosin structure organization
• cardiac muscle cell development
• elastic fiber assembly
• skeletal muscle myosin thick filament assembly
• smooth muscle contraction

Molecular functions

• actin filament binding
• ATP binding
• calmodulin binding
• microfilament motor activity
• structural constituent of muscle

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• melanosome
• muscle myosin complex
• myosin filament
• myosin II complex

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• Myosin head, motor domain-like
• Myosin tail
• Myosin, SH3 domain
• Myosin S1 fragment, N-terminal
• P-loop containing nucleoside triphosphate hydrolase
• Kinesin motor domain superfamily
• Myosin head (motor domain)
• Myosin tail
• Myosin N-terminal SH3-like domain

KeywordsUniProt

• Actin-binding
• Aortic aneurysm
• ATP-binding
• Calmodulin-binding
• Chromosomal rearrangement
• Coiled coil
• Methylation
• Motor protein
• Muscle protein
• Myosin
• Nucleotide-binding
• Phosphoprotein
• Proto-oncogene
• Thick filament