| Gene Symbol |
MYOF
|
| Entrez Gene |
26509
|
| Alt Symbol |
FER1L3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
myoferlin
|
| Other Description |
fer-1-like 3, myoferlin|fer-1-like family member 3|fer-1-like protein 3
|
| Swissprots |
B3KQN5 Q9NZM0 Q9HBU3 Q5VWW2 Q9ULL3 Q8IWH0 Q5VWW5 Q9Y4U4 Q5VWW4 Q7Z642 Q9NZM1 Q5VWW3
|
| Accessions |
CBX51418 EAW50073 EAW50074 EAW50075 EAW50076 Q9NZM1 AB033033 BAA86521 AF182316 AAF27176 AF207990 AAG23737 AK075258 BAG52097 AK093890 BAG52779 AL096713 CAB46370 BC014612 BC033616 BC040110 AAH40110 BC052617 AAH52617 XM_005269693 XP_005269750 XM_005269694 XP_005269751 XM_006717760 XP_006717823 XM_011539632 XP_011537934 XM_011539633 XP_011537935 NM_013451 NP_038479 NM_133337 NP_579899
|
| 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). {ECO:0000250}.
|
| Subcellular Location |
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. Note=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. {ECO:0000250}.
|
| 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. {ECO:0000269|PubMed:11959863, ECO:0000269|PubMed:17702744, ECO:0000269|PubMed:18502764}.
|
