1. Gene
  2. Myof - myoferlin Gene

Myof - myoferlin Gene

Mus musculus

Also known as Fer1l3; 2310004N10Rik; 2310051D19Rik; E030042N20Rik

Gene ID: 226101 | Gene type: protein coding

About Myof

Summary

The protein encoded by this gene is a member of the Ferlin Family of proteins, which have been implicated in fusion events in muscle tissue. Members of this family have a carboxy-terminal single pass transmembrane domain and multiple C2 domains, which bind negatively charged Phospholipids in the presence of calcium ions. This gene is expressed at high levels in myoblasts and upregulated in damaged skeletal muscle. Mice deficient in this protein display defects in myoblast fusion, muscle regeneration, and angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Myof Products(2)

mRNA Protein Name
NM_001099634.1 NP_001093104.1 myoferlin isoform 2
NM_001302140.1 NP_001289069.1 myoferlin isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables phospholipid binding IMP
IMP: Inferred from mutant phenotype
17702744 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within T-tubule organization IGI
IGI: Inferred from genetic interaction
24177035 MGI
acts upstream of or within cellular response to heat IDA
IDA: Inferred from direct assay
18755693 MGI
acts upstream of or within glycerol metabolic process IGI
IGI: Inferred from genetic interaction
24177035 MGI
acts upstream of or within muscle cell development IGI
IGI: Inferred from genetic interaction
24177035 MGI
involved in plasma membrane repair IMP
IMP: Inferred from mutant phenotype
17702744 MGI
involved in regulation of vascular endothelial growth factor receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
17702744 MGI
Cellular Component GO Annotation Evidence Reference Source
located in caveola IDA
IDA: Inferred from direct assay
17702744 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

myoferlin

fer-1-like protein 3

Orthologs Information

Species Symbol Source ID
Homo sapiens Myof NCBI NCBI:26509