MYH3

Protein identityUniProt · HPA

UniProt accession

P11055

Gene

MYH3

Ensembl

ENSG00000109063

Chromosome

17

Canonical length

1940 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1940 residues, UniProt reviewed canonical sequence.

>P11055|MYH3
     1  MSSDTEMEVF GIAAPFLRKS EKERIEAQNQ PFDAKTYCFV VDSKEEYAKG KIKSSQDGKV
    61  TVETEDNRTL VVKPEDVYAM NPPKFDRIED MAMLTHLNEP AVLYNLKDRY TSWMIYTYSG
   121  LFCVTVNPYK WLPVYNPEVV EGYRGKKRQE APPHIFSISD NAYQFMLTDR ENQSILITGE
   181  SGAGKTVNTK RVIQYFATIA ATGDLAKKKD SKMKGTLEDQ IISANPLLEA FGNAKTVRND
   241  NSSRFGKFIR IHFGTTGKLA SADIETYLLE KSRVTFQLKA ERSYHIFYQI LSNKKPELIE
   301  LLLITTNPYD YPFISQGEIL VASIDDAEEL LATDSAIDIL GFTPEEKSGL YKLTGAVMHY
   361  GNMKFKQKQR EEQAEPDGTE VADKTAYLMG LNSSDLLKAL CFPRVKVGNE YVTKGQTVDQ
   421  VHHAVNALSK SVYEKLFLWM VTRINQQLDT KLPRQHFIGV LDIAGFEIFE YNSLEQLCIN
   481  FTNEKLQQFF NHHMFVLEQE EYKKEGIEWT FIDFGMDLAA CIELIEKPMG IFSILEEECM
   541  FPKATDTSFK NKLYDQHLGK SNNFQKPKVV KGRAEAHFSL IHYAGTVDYS VSGWLEKNKD
   601  PLNETVVGLY QKSSNRLLAH LYATFATADA DSGKKKVAKK KGSSFQTVSA LFRENLNKLM
   661  SNLRTTHPHF VRCIIPNETK TPGAMEHSLV LHQLRCNGVL EGIRICRKGF PNRILYGDFK
   721  QRYRVLNASA IPEGQFIDSK KACEKLLASI DIDHTQYKFG HTKVFFKAGL LGTLEEMRDD
   781  RLAKLITRTQ AVCRGFLMRV EFQKMVQRRE SIFCIQYNIR SFMNVKHWPW MKLFFKIKPL
   841  LKSAETEKEM ATMKEEFQKT KDELAKSEAK RKELEEKLVT LVQEKNDLQL QVQAESENLL
   901  DAEERCDQLI KAKFQLEAKI KEVTERAEDE EEINAELTAK KRKLEDECSE LKKDIDDLEL
   961  TLAKVEKEKH ATENKVKNLT EELSGLDETI AKLTREKKAL QEAHQQALDD LQAEEDKVNS
  1021  LNKTKSKLEQ QVEDLESSLE QEKKLRVDLE RNKRKLEGDL KLAQESILDL ENDKQQLDER
  1081  LKKKDFEYCQ LQSKVEDEQT LGLQFQKKIK ELQARIEELE EEIEAERATR AKTEKQRSDY
  1141  ARELEELSER LEEAGGVTST QIELNKKREA EFLKLRRDLE EATLQHEAMV AALRKKHADS
  1201  VAELGEQIDN LQRVKQKLEK EKSEFKLEID DLSSSMESVS KSKANLEKIC RTLEDQLSEA
  1261  RGKNEEIQRS LSELTTQKSR LQTEAGELSR QLEEKESIVS QLSRSKQAFT QQTEELKRQL
  1321  EEENKAKNAL AHALQSSRHD CDLLREQYEE EQEGKAELQR ALSKANSEVA QWRTKYETDA
  1381  IQRTEELEEA KKKLAQRLQD SEEQVEAVNA KCASLEKTKQ RLQGEVEDLM VDVERANSLA
  1441  AALDKKQRNF DKVLAEWKTK CEESQAELEA SLKESRSLST ELFKLKNAYE EALDQLETVK
  1501  RENKNLEQEI ADLTEQIAEN GKTIHELEKS RKQIELEKAD IQLALEEAEA ALEHEEAKIL
  1561  RIQLELTQVK SEIDRKIAEK DEEIEQLKRN YQRTVETMQS ALDAEVRSRN EAIRLKKKME
  1621  GDLNEIEIQL SHANRQAAET LKHLRSVQGQ LKDTQLHLDD ALRGQEDLKE QLAIVERRAN
  1681  LLQAEVEELR ATLEQTERAR KLAEQELLDS NERVQLLHTQ NTSLIHTKKK LETDLMQLQS
  1741  EVEDASRDAR NAEEKAKKAI TDAAMMAEEL KKEQDTSAHL ERMKKNLEQT VKDLQHRLDE
  1801  AEQLALKGGK KQIQKLETRI RELEFELEGE QKKNTESVKG LRKYERRVKE LTYQSEEDRK
  1861  NVLRLQDLVD KLQVKVKSYK RQAEEADEQA NAHLTKFRKA QHELEEAEER ADIAESQVNK
  1921  LRAKTRDFTS SRMVVHESEE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYH3 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)

0.39

Highest tissue expression

27 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYH3.

Disease | AllUniProt

Conditions MYH3 is implicated in, by any mechanism.

• Arthrogryposis, distal, 2A (DA2A) MIM:193700
• Arthrogryposis, distal, 2B3 (DA2B3) MIM:618436
• Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A) MIM:178110
• Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B) MIM:618469

Disease | GeneticClinVar

127 pathogenic / likely-pathogenic of 1,925 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
• MYH3-related disorder
• Contractures, pterygia, and variable skeletal fusions syndrome 1B
• Freeman-Sheldon syndrome
• Arthrogryposis, distal, type 2B3

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)

0.63

gnomAD pLI

0

gnomAD missense Z

1.74

DepMap mean gene effect

-0.12

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

• actin filament-based movement
• ATP metabolic process
• embryonic limb morphogenesis
• face morphogenesis
• muscle contraction
• muscle filament sliding
• muscle organ development
• sarcomere organization
• skeletal muscle contraction

Molecular functions

• actin filament binding
• ATP binding
• ATP hydrolysis activity
• calmodulin binding
• microfilament motor activity
• myosin phosphatase activity

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• Myosin head, motor domain-like
• Myosin tail
• Myosin, SH3 domain
• Myosin S1 fragment, N-terminal
• DNA repair protein XRCC4-like, C-terminal
• P-loop containing nucleoside triphosphate hydrolase
• Kinesin motor domain superfamily
• Myosin head (motor domain)
• Myosin tail
• Myosin N-terminal SH3-like domain
• Class II myosin, Myh3, motor domain

KeywordsUniProt

• Actin-binding
• ATP-binding
• Calmodulin-binding
• Coiled coil
• Cytoplasm
• Methylation
• Motor protein
• Muscle protein
• Myosin
• Nucleotide-binding
• Thick filament