Jump to content

Myoferlin

From Wikipedia, the free encyclopedia
(Redirected from FER1L3)

MYOF
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYOF, FER1L3, myoferlin, HAE7
External IDsOMIM: 604603; MGI: 1919192; HomoloGene: 40882; GeneCards: MYOF; OMA:MYOF - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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.

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]

Structure and function

[edit]

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]

Clinical significance

[edit]

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]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138119Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048612Ensembl, 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 (January 2000). "Myoferlin, a candidate gene and potential modifier of muscular dystrophy". Human Molecular Genetics. 9 (2): 217–226. doi:10.1093/hmg/9.2.217. PMID 10607832.
  6. ^ Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, et al. (September 2000). "The third human FER-1-like protein is highly similar to dysferlin". Genomics. 68 (3): 313–321. doi:10.1006/geno.2000.6290. PMID 10995573.
  7. ^ Bernatchez PN, Acevedo L, Fernandez-Hernando C, Murata T, Chalouni C, Kim J, et al. (October 2007). "Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function". The Journal of Biological Chemistry. 282 (42): 30745–30753. doi:10.1074/jbc.M704798200. PMID 17702744.
  8. ^ a b "Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans)".
  9. ^ Harsini FM, Chebrolu S, Fuson KL, White MA, Rice AM, Sutton RB (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, et al. (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

[edit]