Myoferlin (original) (raw)

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Protein-coding gene in the species Homo sapiens

MYOF
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes2DMH, 2K2O
Identifiers
Aliases MYOF, FER1L3, myoferlin, HAE7
External IDs OMIM: 604603; MGI: 1919192; HomoloGene: 40882; GeneCards: MYOF; OMA:MYOF - orthologs
Gene location (Human)Chromosome 10 (human)Chr.Chromosome 10 (human)[1]Chromosome 10 (human)Genomic location for MYOFGenomic location for MYOFBand10q23.33Start93,306,429 bp[1]End93,482,334 bp[1]
Gene location (Mouse)Chromosome 19 (mouse)Chr.Chromosome 19 (mouse)[2]Chromosome 19 (mouse)Genomic location for MYOFGenomic location for MYOFBand19|19 C2Start37,887,484 bp[2]End38,032,025 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inskin of hipgingival epitheliumnasal epitheliumskin of thighstromal cell of endometriummucosa of paranasal sinusepithelium of nasopharynxurethrapalpebral conjunctivadeciduaTop expressed intransitional epithelium of urinary bladderstroma of bone marrowdeciduasacculeendothelial cell of lymphatic vesselumbilical corduterusright lung lobeyolk saccalvariaMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function protein binding phospholipid binding Cellular component caveola integral component of membrane plasma membrane nuclear membrane extracellular exosome nuclear envelope cytoplasmic vesicle membrane cytoplasmic vesicle intracellular membrane-bounded organelle nucleus membrane Biological process cellular response to heat plasma membrane repair muscle contraction blood circulation regulation of vascular endothelial growth factor receptor signaling pathway myoblast fusion glycerol metabolic process T-tubule organization Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez26509226101EnsemblENSG00000138119ENSMUSG00000048612UniProtQ9NZM1Q69ZN7RefSeq (mRNA)NM_013451NM_133337NM_001099634NM_001302140NM_177035RefSeq (protein)NP_038479NP_579899NP_001093104NP_001289069Location (UCSC)Chr 10: 93.31 – 93.48 MbChr 19: 37.89 – 38.03 MbPubMed 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

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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

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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]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138119 – Ensembl, May 2017
  2. ^ a b c 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 (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.