• Gene id: 8735

Gene Summary

• Gene Symbol: MYH13   Gene   UCSC   Ensembl
• Aliases: MyHC-IIL, MyHC-eo
• Gene name: myosin heavy chain 13
• Alternate names: myosin-13, extraocular muscle myosin heavy chain, extraocular myosin heavy chain, myosin heavy chain, skeletal muscle, extraocular, myosin heavy chain, skeletal muscle, laryngeal, myosin, heavy chain 13, skeletal muscle, myosin, heavy polypeptide 13, skeletal m,
• Gene location: 17p13.1 (10373005: 10300864)     Exons: 41     NC_000017.11
• OMIM: 604067

Protein Summary

• Protein general information: Q9UKX3  
  • Name: Myosin 13 (Myosin heavy chain 13) (Myosin heavy chain, skeletal muscle, extraocular) (MyHC EO) (Myosin heavy chain, skeletal muscle, laryngeal) (MyHC IIL) (Superfast myosin)
  • Length: 1938  
  • Mass: 223605
  • Tissue specificity: Specifically expressed in extraocular and laryngeal muscles. {ECO
• Sequence:

  MSSDAEMAIFGEAAPYLRKPEKERIEAQNRPFDSKKACFVADNKEMYVKGMIQTRENDKVIVKTLDDRMLTLNND
  QVFPMNPPKFDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYKPEVVAAYRGKKRQE
  APPHIFSISDNAYQFMLTDRDNQSILITGESGAGKTVNTKRVIQYFATIAVTGDKKKETQPGKMQGTLEDQIIQA
  NPLLEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVTFQLSSERSYHIFYQIMSNKKPELI
  DLLLISTNPFDFPFVSQGEVTVASIDDSEELLATDNAIDILGFSSEEKVGIYKLTGAVMHYGNMKFKQKQREEQA
  EPDGTEVADKAGYLMGLNSAEMLKGLCCPRVKVGNEYVTKGQNVQQVTNSVGALAKAVYEKMFLWMVTRINQQLD
  TKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWEFIDFGMDLAACIEL
  IEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGKSNNFQKPKPAKGKAEAHFSLVHYAGTVDYNIAGWLDKNK
  DPLNETVVGLYQKSSLKLLSFLFSNYAGAETGDSGGSKKGGKKKGSSFQTVSAVFRENLNKLMTNLRSTHPHFVR
  CLIPNETKTPGVMDHYLVMHQLRCNGVLEGIRICRKGFPSRILYADFKQRYRILNASAIPEGQFIDSKNASEKLL
  NSIDVDREQFRFGNTKVFFKAGLLGLLEEMRDEKLVTLMTSTQAVCRGYLMRVEFKKMMERRDSIFCIQYNIRSF
  MNVKHWPWMNLFFKIKPLLKSAEAEKEMATMKEDFERTKEELARSEARRKELEEKMVSLLQEKNDLQLQVQSETE
  NLMDAEERCEGLIKSKILLEAKVKELTERLEEEEEMNSELVAKKRNLEDKCSSLKRDIDDLELTLTKVEKEKHAT
  ENKVKNLSEEMTALEENISKLTKEKKSLQEAHQQTLDDLQVEEDKVNGLIKINAKLEQQTDDLEGSLEQEKKLRA
  DLERAKRKLEGDLKMSQESIMDLENDKQQIEEKLKKKEFELSQLQAKIDDEQVHSLQFQKKIKELQARIEELEEE
  IEAEHTLRAKIEKQRSDLARELEEISERLEEASGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRKKQ
  ADSVAELGEQIDNLQRVKQKLEKEKSELKMEIDDMASNIEALSKSKSNIERTCRTVEDQFSEIKAKDEQQTQLIH
  DLNMQKARLQTQNGELSHRVEEKESLISQLTKSKQALTQQLEELKRQMEEETKAKNAMAHALQSSRHDCDLLREQ
  YEEEQEAKAELQRALSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEENTETANSKCASLEKTKQRL
  QGEVEDLMRDLERSHTACATLDKKQRNFDKVLAEWKQKLDESQAELEAAQKESRSLSTELFKMRNAYEEVVDQLE
  TLRRENKNLQEEISDLTEQIAETGKNLQEAEKTKKLVEQEKSDLQVALEEVEGSLEHEESKILRVQLELSQVKSE
  LDRKVIEKDEEIEQLKRNSQRAAEALQSVLDAEIRSRNDALRLKKKMEGDLNEMEIQLGHSNRQMAETQKHLRTV
  QGQLKDSQLHLDDALRSNEDLKEQLAIVERRNGLLLEELEEMKVALEQTERTRRLSEQELLDASDRVQLLHSQNT
  SLINTKKKLEADIAQCQAEVENSIQESRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHR
  LDEAEQLALKGGKKQIQKLENRVRELENELDVEQKRGAEALKGAHKYERKVKEMTYQAEEDHKNILRLQDLVDKL
  QAKVKSYKRQAEEAEEQANTQLSRCRRVQHELEEAAERADIAESQVNKLRAKSRDVGSQKMEE

• Structural information:
  • Protein Domains: (33..8-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (86..78-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (785..81-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR000048  IPR036961  IPR042702  IPR001609  IPR027401   IPR004009  IPR008989  IPR002928  IPR027417  
  • Prosite: PS50096 PS51456 PS51844
  • CDD: cd14923
  • STRING: ENSP00000404570
• Other Databases: GeneCards:  MYH13  Malacards:  MYH13

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:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0009267	cellular response to starvation	IEA	biological process
GO:0030016	myofibril	IEA	cellular component
GO:0030016	myofibril	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0000146	microfilament motor activity	TAS	molecular function
GO:0006936	muscle contraction	TAS	biological process
GO:0005859	muscle myosin complex	TAS	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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