Mouse Gene Myof (ENSMUST00000041475.15) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
Description: Mus musculus myoferlin (Myof), transcript variant 2, mRNA. (from RefSeq NM_001099634) RefSeq Summary (NM_001099634): 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]. Gencode Transcript: ENSMUST00000041475.15 Gencode Gene: ENSMUSG00000048612.16 Transcript (Including UTRs) Position: mm10 chr19:37,899,228-38,043,577 Size: 144,350 Total Exon Count: 53 Strand: - Coding Region Position: mm10 chr19:37,899,729-38,043,323 Size: 143,595 Coding Exon Count: 53
ID:MYOF_MOUSE DESCRIPTION: RecName: Full=Myoferlin; AltName: Full=Fer-1-like protein 3; FUNCTION: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR. COFACTOR: Binds calcium ions. The ions are bound to the C2 1 domain. SUBUNIT: Interacts with EHD2; the interaction is direct (By similarity). Interacts with DNM2 and KDR. SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein (By similarity). Nucleus membrane; Single-pass type II membrane protein (By similarity). Cytoplasmic vesicle membrane; Single-pass type II membrane protein (By similarity). Note=Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures (By similarity). Concentrated at the membrane sites of both myoblast- myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels. TISSUE SPECIFICITY: Expressed in myoblasts (at protein level). Expressed in endothelial cells. DOMAIN: The C2 1 domain associates with lipid membranes in a calcium-dependent manner (By similarity). MISCELLANEOUS: Mice lacking Myof display fewer large multinucleated myotubes and are impaired in their ability to regenerate skeletal muscle after injury. They display a defective membrane repair in endothelial cells. They show also a delayed endocytic recycling. SIMILARITY: Belongs to the ferlin family. SIMILARITY: Contains 5 C2 domains. SEQUENCE CAUTION: Sequence=AAH25649.1; Type=Erroneous initiation; Sequence=BAD32409.1; Type=Frameshift; Positions=2020;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q69ZN7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.