• Gene id: 26509

Gene Summary

• Gene Symbol: MYOF   Gene   UCSC   Ensembl
• Aliases: FER1L3
• Gene name: myoferlin
• Alternate names: myoferlin, fer-1-like 3, myoferlin, fer-1-like family member 3, fer-1-like protein 3,
• Gene location: 10q23.33 (93482504: 93306428)     Exons: 59     NC_000010.11
• Gene summary(Entrez): Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is
• OMIM: 606802

Protein Summary

• Protein general information: Q9NZM1  
  • Name: Myoferlin (Fer 1 like protein 3)
  • Length: 2061  
  • Mass: 234709
  • Tissue specificity: Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain. {ECO
• Sequence:

  MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLDFSSSLGIIVKDFETI
  GQNKLIGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDLVIGYDPPSAPHPNDLSGPSVPGMGGDGEED
  EGDEDRLDNAVRGPGPKGPVGTVSEAQLARRLTKVKNSRRMLSNKPQDFQIRVRVIEGRQLSGNNIRPVVKVHVC
  GQTHRTRIKRGNNPFFDELFFYNVNMTPSELMDEIISIRVYNSHSLRADCLMGEFKIDVGFVYDEPGHAVMRKWL
  LLNDPEDTSSGSKGYMKVSMFVLGTGDEPPPERRDRDNDSDDVESNLLLPAGIALRWVTFLLKIYRAEDIPQMDD
  AFSQTVKEIFGGNADKKNLVDPFVEVSFAGKKVCTNIIEKNANPEWNQVVNLQIKFPSVCEKIKLTIYDWDRLTK
  NDVVGTTYLHLSKIAASGGEVEDFSSSGTGAASYTVNTGETEVGFVPTFGPCYLNLYGSPREYTGFPDPYDELNT
  GKGEGVAYRGRILVELATFLEKTPPDKKLEPISNDDLLVVEKYQRRRKYSLSAVFHSATMLQDVGEAIQFEVSIG
  NYGNKFDTTCKPLASTTQYSRAVFDGNYYYYLPWAHTKPVVTLTSYWEDISHRLDAVNTLLAMAERLQTNIEALK
  SGIQGKIPANQLAELWLKLIDEVIEDTRYTLPLTEGKANVTVLDTQIRKLRSRSLSQIHEAAVRMRSEATDVKST
  LAEIEDWLDKLMQLTEEPQNSMPDIIIWMIRGEKRLAYARIPAHQVLYSTSGENASGKYCGKTQTIFLKYPQEKN
  NGPKVPVELRVNIWLGLSAVEKKFNSFAEGTFTVFAEMYENQALMFGKWGTSGLVGRHKFSDVTGKIKLKREFFL
  PPKGWEWEGEWIVDPERSLLTEADAGHTEFTDEVYQNESRYPGGDWKPAEDTYTDANGDKAASPSELTCPPGWEW
  EDDAWSYDINRAVDEKGWEYGITIPPDHKPKSWVAAEKMYHTHRRRRLVRKRKKDLTQTASSTARAMEELQDQEG
  WEYASLIGWKFHWKQRSSDTFRRRRWRRKMAPSETHGAAAIFKLEGALGADTTEDGDEKSLEKQKHSATTVFGAN
  TPIVSCNFDRVYIYHLRCYVYQARNLLALDKDSFSDPYAHICFLHRSKTTEIIHSTLNPTWDQTIIFDEVEIYGE
  PQTVLQNPPKVIMELFDNDQVGKDEFLGRSIFSPVVKLNSEMDITPKLLWHPVMNGDKACGDVLVTAELILRGKD
  GSNLPILPPQRAPNLYMVPQGIRPVVQLTAIEILAWGLRNMKNFQMASITSPSLVVECGGERVESVVIKNLKKTP
  NFPSSVLFMKVFLPKEELYMPPLVIKVIDHRQFGRKPVVGQCTIERLDRFRCDPYAGKEDIVPQLKASLLSAPPC
  RDIVIEMEDTKPLLASKLTEKEEEIVDWWSKFYASSGEHEKCGQYIQKGYSKLKIYNCELENVAEFEGLTDFSDT
  FKLYRGKSDENEDPSVVGEFKGSFRIYPLPDDPSVPAPPRQFRELPDSVPQECTVRIYIVRGLELQPQDNNGLCD
  PYIKITLGKKVIEDRDHYIPNTLNPVFGRMYELSCYLPQEKDLKISVYDYDTFTRDEKVGETIIDLENRFLSRFG
  SHCGIPEEYCVSGVNTWRDQLRPTQLLQNVARFKGFPQPILSEDGSRIRYGGRDYSLDEFEANKILHQHLGAPEE
  RLALHILRTQGLVPEHVETRTLHSTFQPNISQGKLQMWVDVFPKSLGPPGPPFNITPRKAKKYYLRVIIWNTKDV
  ILDEKSITGEEMSDIYVKGWIPGNEENKQKTDVHYRSLDGEGNFNWRFVFPFDYLPAEQLCIVAKKEHFWSIDQT
  EFRIPPRLIIQIWDNDKFSLDDYLGFLELDLRHTIIPAKSPEKCRLDMIPDLKAMNPLKAKTASLFEQKSMKGWW
  PCYAEKDGARVMAGKVEMTLEILNEKEADERPAGKGRDEPNMNPKLDLPNRPETSFLWFTNPCKTMKFIVWRRFK
  WVIIGLLFLLILLLFVAVLLYSLPNYLSMKIVKPNV

• Structural information:
  • Protein Domains: (1..10-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (181..30-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (339..47-)
    (/note="C2-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (1-)
  • Interpro: IPR000008  IPR035892  IPR037726  IPR037720  IPR037722   IPR037723  IPR037724  IPR037725  IPR012968  IPR037721  IPR012560  IPR012561  IPR032362  IPR029999  IPR006614  
  • Prosite: PS50004
  • CDD: cd08373 cd04011 cd04018 cd04017 cd04037 cd08374
  • PDB: 2DMH 2K2O 6EEL
  • PDBsum: 2DMH 2K2O 6EEL
  • STRING: ENSP00000352208
• Other Databases: GeneCards:  MYOF  Malacards:  MYOF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033292	T-tubule organization	IBA	biological process
GO:0061025	membrane fusion	IBA	biological process
GO:0001778	plasma membrane repair	IBA	biological process
GO:0005543	phospholipid binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007009	plasma membrane organization	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005901	caveola	ISS	cellular component
GO:0005543	phospholipid binding	ISS	molecular function
GO:0001778	plasma membrane repair	ISS	biological process
GO:0007520	myoblast fusion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0034605	cellular response to heat	IEA	biological process
GO:0033292	T-tubule organization	IEA	biological process
GO:0006071	glycerol metabolic process	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:0048747	muscle fiber development	IEA	biological process
GO:0030947	regulation of vascular endothelial growth factor receptor signaling pathway	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0001778	plasma membrane repair	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq