Myoferlin

Domain

The C2 domain 1 associates with lipid membranes in a calcium-dependent manner.

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 (By similarity).

Sequence similarities

Belongs to the ferlin family.

Tissue specificity

Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain.

Cellular localization

• Cell membrane
• Single-pass type II membrane protein
• Nucleus membrane
• Single-pass type II membrane protein
• Cytoplasmic vesicle membrane
• Single-pass type II membrane protein
• Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures.

Alternative names

• Myoferlin
• Fer-1-like protein 3
• FER1L3
• KIAA1207
• MYOF

Database links

• entrezGene:26509
• omim:604603
• swissprot:Q9NZM1

Target type

Proteins

Molecular weight

234709Da