Myoferlin

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

MYOF
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DMH, 2K2O
Identifiers
Aliases	MYOF, FER1L3, myoferlin
External IDs	OMIM: 604603 MGI: 1919192 HomoloGene: 40882 GeneCards: MYOF
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q23.33 Start 93,306,429 bp[1] End 93,482,334 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 C2 Start 37,899,036 bp[2] End 38,043,577 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • phospholipid binding Cellular component • caveola • integral component of membrane • cell membrane • not the membrane • extracellular exosome • nuclear envelope • cytoplasmic vesicle membrane • cytoplasmic vesicle • intracellular membrane-bounded organelle • cell 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 • muscle fiber development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr 19: 37.9 – 38.04 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 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]