InnateDB Protein
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IDBP-82683.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MYOF
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Protein Name
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myoferlin
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000360543
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InnateDB Gene
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IDBG-82667 (MYOF)
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Protein Structure
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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}.
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Subcellular 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. 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}.
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Disease Associations |
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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:0000269PubMed:11959863, ECO:0000269PubMed:17702744, ECO:0000269PubMed:18502764}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
17
[view]
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Protein-Protein |
16
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000008
C2 domain
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PFAM |
PF00168
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PRINTS |
PR00360
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PIRSF |
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SMART |
SM00239
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NZM1
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PhosphoSite |
PhosphoSite-Q9NZM1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
26509
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UniGene |
Hs.715898
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RefSeq |
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HUGO |
HGNC:3656
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OMIM |
604603
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CCDS |
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HPRD |
06857
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IMGT |
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EMBL |
AB033033
AF182316
AF182317
AF207990
AK075258
AL096713
AL360229
AL365364
BC040110
BC052617
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GenPept |
AAF27176
AAF27177
AAG23737
AAH40110
AAH52617
BAA86521
BAG52097
CAB46370
CAH72370
CAH72371
CAH72372
CAH72373
CAI41206
CAI41207
CAI41208
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