• Gene id: 4626

Gene Summary

• Gene Symbol: MYH8   Gene   UCSC   Ensembl
• Aliases: DA7, MyHC-peri, MyHC-pn, gtMHC-F
• Gene name: myosin heavy chain 8
• Alternate names: myosin-8, fetal-myosin heavy chain, myHC-perinatal, myosin heavy chain, skeletal muscle, perinatal, myosin, heavy chain 8, skeletal muscle, perinatal, myosin, heavy polypeptide 8, skeletal muscle, perinatal,
• Gene location: 17p13.1 (10421949: 10390321)     Exons: 40     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 300808

Protein Summary

• Protein general information: P13535  
  • Name: Myosin 8 (Myosin heavy chain 8) (Myosin heavy chain, skeletal muscle, perinatal) (MyHC perinatal)
  • Length: 1937  
  • Mass: 222763
• Sequence:

  MSASSDAEMAVFGEAAPYLRKSEKERIEAQNKPFDAKTSVFVAEPKESYVKSTIQSKEGGKVTVKTEGGATLTVR
  EDQVFPMNPPKYDKIEDMAMMTHLHEPGVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYKPEVVAAYRGKKR
  QEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKDESGKMQGTLEDQIIS
  ANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQITSNKKPDL
  IEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIDILGFTPEEKVSIYKLTGAVMHYGNMKFKQKQREEQ
  AEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTVQQVYNAVGALAKAVYEKMFLWMVTRINQQL
  DTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIE
  LIEKPLGIFSILEEECMFPKATDTSFKNKLYDQHLGKSANFQKPKVVKGKAEAHFSLIHYAGTVDYNITGWLDKN
  KDPLNDTVVGLYQKSAMKTLASLFSTYASAEADSSAKKGAKKKGSSFQTVSALFRENLNKLMTNLRSTHPHFVRC
  IIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYGDFKQRYKVLNASAIPEGQFIDSKKASEKLLA
  SIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDEKLAQIITRTQAVCRGFLMRVEYQKMLQRREALFCIQYNVRAFM
  NVKHWPWMKLFFKIKPLLKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQSEADS
  LADAEERCEQLIKNKIQLEAKIKEVTERAEEEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATE
  NKVKNLTEEMAGLDETIAKLSKEKKALQETHQQTLDDLQAEEDKVNILTKAKTKLEQQVDDLEGSLEQEKKLRMD
  LERAKRKLEGDLKLAQESTMDMENDKQQLDEKLEKKEFEISNLISKIEDEQAVEIQLQKKIKELQARIEELGEEI
  EAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQVELNKKREAEFQKLRRDLEEATLQHEAMVAALRKKHA
  DSMAELGEQIDNLQRVKQKLEKEKSELKMETDDLSSNAEAISKAKGNLEKMCRSLEDQVSELKTKEEEQQRLIND
  LTAQRARLQTEAGEYSRQLDEKDALVSQLSRSKQASTQQIEELKHQLEEETKAKNALAHALQSSRHDCDLLREQY
  EEEQEGKAELQRALSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEEHVEAVNAKCASLEKTKQRLQ
  NEVEDLMLDVERSNAACAALDKKQRNFDKVLSEWKQKYEETQAELEASQKESRSLSTELFKVKNVYEESLDQLET
  LRRENKNLQQEISDLTEQIAEGGKQIHELEKIKKQVEQEKCEIQAALEEAEASLEHEEGKILRIQLELNQVKSEV
  DRKIAEKDEEIDQLKRNHTRVVETMQSTLDAEIRSRNDALRVKKKMEGDLNEMEIQLNHANRLAAESLRNYRNTQ
  GILKETQLHLDDALRGQEDLKEQLAIVERRANLLQAEIEELWATLEQTERSRKIAEQELLDASERVQLLHTQNTS
  LINTKKKLENDVSQLQSEVEEVIQESRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRL
  DEAEQLALKGGKKQIQKLEARVRELEGEVENEQKRNAEAVKGLRKHERRVKELTYQTEEDRKNVLRLQDLVDKLQ
  AKVKSYKRQAEEAEEQSNANLSKFRKLQHELEEAEERADIAESQVNKLRVKSREVHTKISAE

• Structural information:
  • Protein Domains: (35..8-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (88..78-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (781..81-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR000048  IPR036961  IPR001609  IPR027401  IPR004009   IPR008989  IPR002928  IPR027417  
  • Prosite: PS50096 PS51456 PS51844
  • STRING: ENSP00000384330
• Other Databases: GeneCards:  MYH8  Malacards:  MYH8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0032982	myosin filament	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0017018	myosin phosphatase activity	TAS	molecular function
GO:0030049	muscle filament sliding	TAS	biological process
GO:0016459	myosin complex	IEA	cellular component
GO:0032982	myosin filament	IC	cellular component
GO:0000146	microfilament motor activity	IMP	molecular function
GO:0051015	actin filament binding	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0030017	sarcomere	IC	cellular component
GO:0005524	ATP binding	IMP	molecular function
GO:0016887	ATPase activity	IMP	molecular function
GO:0032027	myosin light chain binding	TAS	molecular function
GO:0046034	ATP metabolic process	IMP	biological process
GO:0030049	muscle filament sliding	IMP	biological process
GO:0003009	skeletal muscle contraction	IMP	biological process
GO:0030016	myofibril	IEA	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0008307	structural constituent of muscle	NAS	molecular function
GO:0005859	muscle myosin complex	NAS	cellular component
GO:0006936	muscle contraction	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction

Diseases

Associated diseases	References
Distal arthrogryposis	KEGG:H00811
Trismus-pseudocamptodactyly syndrome	KEGG:H00872
Distal arthrogryposis	KEGG:H00811
Trismus-pseudocamptodactyly syndrome	KEGG:H00872
Distal arthrogryposis type 7	PMID:17041932
Muscular dystrophy	PMID:3513005
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R