MYH8

Protein identityUniProt · HPA

UniProt accession

P13535

Gene

MYH8

Ensembl

ENSG00000133020

Chromosome

17

Canonical length

1937 aa

Protein class

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

Subcellular location

Focal adhesion sites

OverviewNCBI Gene

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

1937 residues, UniProt reviewed canonical sequence.

>P13535|MYH8
     1  MSASSDAEMA VFGEAAPYLR KSEKERIEAQ NKPFDAKTSV FVAEPKESYV KSTIQSKEGG
    61  KVTVKTEGGA TLTVREDQVF PMNPPKYDKI EDMAMMTHLH EPGVLYNLKE RYAAWMIYTY
   121  SGLFCVTVNP YKWLPVYKPE VVAAYRGKKR QEAPPHIFSI SDNAYQFMLT DRENQSILIT
   181  GESGAGKTVN TKRVIQYFAT IAVTGEKKKD ESGKMQGTLE DQIISANPLL EAFGNAKTVR
   241  NDNSSRFGKF IRIHFGTTGK LASADIETYL LEKSRVTFQL KAERSYHIFY QITSNKKPDL
   301  IEMLLITTNP YDYAFVSQGE ITVPSIDDQE ELMATDSAID ILGFTPEEKV SIYKLTGAVM
   361  HYGNMKFKQK QREEQAEPDG TEVADKAAYL QSLNSADLLK ALCYPRVKVG NEYVTKGQTV
   421  QQVYNAVGAL AKAVYEKMFL WMVTRINQQL DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC
   481  INFTNEKLQQ FFNHHMFVLE QEEYKKEGIE WTFIDFGMDL AACIELIEKP LGIFSILEEE
   541  CMFPKATDTS FKNKLYDQHL GKSANFQKPK VVKGKAEAHF SLIHYAGTVD YNITGWLDKN
   601  KDPLNDTVVG LYQKSAMKTL ASLFSTYASA EADSSAKKGA KKKGSSFQTV SALFRENLNK
   661  LMTNLRSTHP HFVRCIIPNE TKTPGAMEHE LVLHQLRCNG VLEGIRICRK GFPSRILYGD
   721  FKQRYKVLNA SAIPEGQFID SKKASEKLLA SIDIDHTQYK FGHTKVFFKA GLLGLLEEMR
   781  DEKLAQIITR TQAVCRGFLM RVEYQKMLQR REALFCIQYN VRAFMNVKHW PWMKLFFKIK
   841  PLLKSAETEK EMATMKEEFQ KTKDELAKSE AKRKELEEKM VTLLKEKNDL QLQVQSEADS
   901  LADAEERCEQ LIKNKIQLEA KIKEVTERAE EEEEINAELT AKKRKLEDEC SELKKDIDDL
   961  ELTLAKVEKE KHATENKVKN LTEEMAGLDE TIAKLSKEKK ALQETHQQTL DDLQAEEDKV
  1021  NILTKAKTKL EQQVDDLEGS LEQEKKLRMD LERAKRKLEG DLKLAQESTM DMENDKQQLD
  1081  EKLEKKEFEI SNLISKIEDE QAVEIQLQKK IKELQARIEE LGEEIEAERA SRAKAEKQRS
  1141  DLSRELEEIS ERLEEAGGAT SAQVELNKKR EAEFQKLRRD LEEATLQHEA MVAALRKKHA
  1201  DSMAELGEQI DNLQRVKQKL EKEKSELKME TDDLSSNAEA ISKAKGNLEK MCRSLEDQVS
  1261  ELKTKEEEQQ RLINDLTAQR ARLQTEAGEY SRQLDEKDAL VSQLSRSKQA STQQIEELKH
  1321  QLEEETKAKN ALAHALQSSR HDCDLLREQY EEEQEGKAEL QRALSKANSE VAQWRTKYET
  1381  DAIQRTEELE EAKKKLAQRL QEAEEHVEAV NAKCASLEKT KQRLQNEVED LMLDVERSNA
  1441  ACAALDKKQR NFDKVLSEWK QKYEETQAEL EASQKESRSL STELFKVKNV YEESLDQLET
  1501  LRRENKNLQQ EISDLTEQIA EGGKQIHELE KIKKQVEQEK CEIQAALEEA EASLEHEEGK
  1561  ILRIQLELNQ VKSEVDRKIA EKDEEIDQLK RNHTRVVETM QSTLDAEIRS RNDALRVKKK
  1621  MEGDLNEMEI QLNHANRLAA ESLRNYRNTQ GILKETQLHL DDALRGQEDL KEQLAIVERR
  1681  ANLLQAEIEE LWATLEQTER SRKIAEQELL DASERVQLLH TQNTSLINTK KKLENDVSQL
  1741  QSEVEEVIQE SRNAEEKAKK AITDAAMMAE ELKKEQDTSA HLERMKKNLE QTVKDLQHRL
  1801  DEAEQLALKG GKKQIQKLEA RVRELEGEVE NEQKRNAEAV KGLRKHERRV KELTYQTEED
  1861  RKNVLRLQDL VDKLQAKVKS YKRQAEEAEE QSNANLSKFR KLQHELEEAE ERADIAESQV
  1921  NKLRVKSREV HTKISAE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYH8 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)

0.37

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYH8.

Disease | AllUniProt

Conditions MYH8 is implicated in, by any mechanism.

• Carney complex variant (CACOV) MIM:608837
• Arthrogryposis, distal, 7 (DA7) MIM:158300

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 510 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hecht syndrome
• Carney complex - trismus - pseudocamptodactyly syndrome

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)

1.03

gnomAD pLI

0

gnomAD missense Z

0.35

DepMap mean gene effect

0.08

DepMap dependency class

none

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

• ATP metabolic process
• muscle contraction
• muscle filament sliding
• skeletal muscle contraction

Molecular functions

• actin filament binding
• ATP binding
• ATP hydrolysis activity
• calmodulin binding
• microfilament motor activity
• myosin light chain binding
• myosin phosphatase activity
• structural constituent of muscle

Cellular components

• cytoplasm
• cytosol
• 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

KeywordsUniProt

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