Protein-coding gene in the species Homo sapiens
| MYOF |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| List of PDB id codes |
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2DMH, 2K2O |
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| Identifiers |
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| Aliases | MYOF, FER1L3, myoferlin, HAE7 |
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| External IDs | OMIM: 604603; MGI: 1919192; HomoloGene: 40882; GeneCards: MYOF; OMA:MYOF - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 10 (human)[1] |
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| | Band | 10q23.33 | Start | 93,306,429 bp[1] |
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| End | 93,482,334 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 19 (mouse)[2] |
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| | Band | 19|19 C2 | Start | 37,887,484 bp[2] |
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| End | 38,032,025 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - skin of hip
- gingival epithelium
- nasal epithelium
- skin of thigh
- stromal cell of endometrium
- mucosa of paranasal sinus
- epithelium of nasopharynx
- urethra
- palpebral conjunctiva
- decidua
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| | Top expressed in | - transitional epithelium of urinary bladder
- stroma of bone marrow
- decidua
- saccule
- endothelial cell of lymphatic vessel
- belly cord
- uterus
- right lung lobe
- yolk sac
- calvaria
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| | More reference expression data |
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| BioGPS | 
 | | More reference expression data |
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| Gene ontology |
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| Molecular 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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NM_001099634
NM_001302140
NM_177035 |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 10: 93.31 – 93.48 Mb | Chr 19: 37.89 – 38.03 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000138119 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048612 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ a b "Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans)".
- ^ Harsini FM, Chebrolu S, Fuson KL, White MA, Rice AM, Sutton RB (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.
- ^ 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
- Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
- Nagase T, Ishikawa K, Kikuno R, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
- Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. Bibcode:2002CBio...12....1A. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298. S2CID 14132033.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
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2dmh: Solution structure of the first C2 domain of human myoferlin
