MYOF
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYOF, FER1L3, myoferlin, HAE7
External IDsOMIM: 604603 MGI: 1919192 HomoloGene: 40882 GeneCards: MYOF
Orthologs
SpeciesHumanMouse
Entrez

26509

226101

Ensembl

ENSG00000138119

ENSMUSG00000048612

UniProt

Q9NZM1

Q69ZN7

RefSeq (mRNA)

NM_013451
NM_133337

NM_001099634
NM_001302140
NM_177035

RefSeq (protein)

NP_038479
NP_579899

NP_001093104
NP_001289069

Location (UCSC)Chr 10: 93.31 – 93.48 MbChr 19: 37.89 – 38.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myoferlin is a protein that in humans is encoded by the MYOF gene.[5][6][7][8]

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 a member of the ferlin family and associates with both plasma and nuclear membranes. Myoferlin contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Myoferlin also contains a FerA domain. FerA domains have been shown to interact with the membrane, suggesting that FerA domain in myoferlin may contribute to myoferlin's membrane interaction mechanism.[9] Myoferlin is overexpressed in several types of cancers, especially pancreas and triple-negative breast cancer. Overexpression of myoferlin is associated with proliferation, migration and invasion of cancer cells and silencing myoferlin's gene in triple-negative breast cancer can significantly reduce tumor growth and metastatic progression.[10] Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length natures have not been determined.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000138119 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000048612 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Davis DB, Delmonte AJ, Ly CT, McNally EM (Feb 2000). "Myoferlin, a candidate gene and potential modifier of muscular dystrophy". Hum Mol Genet. 9 (2): 217–26. doi:10.1093/hmg/9.2.217. PMID 10607832.
  6. Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R (Nov 2000). "The third human FER-1-like protein is highly similar to dysferlin". Genomics. 68 (3): 313–21. doi:10.1006/geno.2000.6290. PMID 10995573.
  7. Bernatchez PN, Acevedo L, Fernandez-Hernando C, Murata T, Chalouni C, Kim J, Erdjument-Bromage H, Shah V, Gratton JP, McNally EM, Tempst P, Sessa WC (Oct 2007). "Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function". J Biol Chem. 282 (42): 30745–53. doi:10.1074/jbc.M704798200. PMID 17702744.
  8. 1 2 "Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans)".
  9. Harsini, Faraz M; Chebrolu, Sukanya; Fuson, Kerry L; White, Mark A; Rice, Anne M; Sutton, Roger B (19 July 2018). "FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins". Scientific Reports. 8 (1): 10949. Bibcode:2018NatSR...810949H. doi:10.1038/s41598-018-29184-1. PMC 6053371. PMID 30026467.
  10. Blomme, A; Costanza, B; de Tullio, P; Thiry, M; Van Simaeys, G; Boutry, S; Doumont, G; Di Valentin, E; Hirano, T; Yokobori, T; Gofflot, S; Peulen, O; Bellahcène, A; Sherer, F; Le Goff, C; Cavalier, E; Mouithys-Mickalad, A; Jouret, F; Cusumano, PG; Lifrange, E; Muller, RN; Goldman, S; Delvenne, P; De Pauw, E; Nishiyama, M; Castronovo, V; Turtoi, A (April 2017). "Myoferlin regulates cellular lipid metabolism and promotes metastases in triple-negative breast cancer". Oncogene. 36 (15): 2116–2130. doi:10.1038/onc.2016.369. PMID 27775075. S2CID 26225163.

Further reading


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