MYOF
entrez
26509
canonical
uniprot
Q9NZM1
canonical
ensembl
ENSG00000138119
resolver
ensp
ENSP00000351094
resolver
ensp
ENSP00000352208
resolver
ensp
ENSP00000612014
resolver
ensp
ENSP00000612015
resolver
genesymbol
MYOF
resolver
genesymbol_syn
FER1L3
resolver
genesymbol_syn
KIAA1207
resolver
hgnc
HGNC:3656
resolver
uniprot
B3KQN5
resolver
uniprot
Q5VWW2
resolver
uniprot
Q5VWW3
resolver
uniprot
Q5VWW4
resolver
uniprot
Q5VWW5
resolver
uniprot
Q7Z642
resolver
uniprot
Q8IWH0
resolver
uniprot
Q9HBU3
resolver
uniprot
Q9NZM0
resolver
uniprot
Q9ULL3
resolver
uniprot
Q9Y4U4
resolver
uniprot_entry
MYOF_HUMAN
resolver
uniprot_sec
B3KQN5
resolver
uniprot_sec
Q5VWW2
resolver
uniprot_sec
Q5VWW3
resolver
uniprot_sec
Q5VWW4
resolver
uniprot_sec
Q5VWW5
resolver
uniprot_sec
Q7Z642
resolver
uniprot_sec
Q8IWH0
resolver
uniprot_sec
Q9HBU3
resolver
uniprot_sec
Q9NZM0
resolver
uniprot_sec
Q9ULL3
resolver
uniprot_sec
Q9Y4U4
resolver
amino_acid_sequence
MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLDFSSSLGIIVKDFETIGQNKLIGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDLVIGYDPPSAPHPNDLSGPSVPGMGGDGEEDEGDEDRLDNAVRGPGPKGPVGTVSEAQLARRLTKVKNSRRMLSNKPQDFQIRVRVIEGRQLSGNNIRPVVKVHVCGQTHRTRIKRGNNPFFDELFFYNVNMTPSELMDEIISIRVYNSHSLRADCLMGEFKIDVGFVYDEPGHAVMRKWLLLNDPEDTSSGSKGYMKVSMFVLGTGDEPPPERRDRDNDSDDVESNLLLPAGIALRWVTFLLKIYRAEDIPQMDDAFSQTVKEIFGGNADKKNLVDPFVEVSFAGKKVCTNIIEKNANPEWNQVVNLQIKFPSVCEKIKLTIYDWDRLTKNDVVGTTYLHLSKIAASGGEVEDFSSSGTGAASYTVNTGETEVGFVPTFGPCYLNLYGSPREYTGFPDPYDELNTGKGEGVAYRGRILVELATFLEKTPPDKKLEPISNDDLLVVEKYQRRRKYSLSAVFHSATMLQDVGEAIQFEVSIGNYGNKFDTTCKPLASTTQYSRAVFDGNYYYYLPWAHTKPVVTLTSYWEDISHRLDAVNTLLAMAERLQTNIEALKSGIQGKIPANQLAELWLKLIDEVIEDTRYTLPLTEGKANVTVLDTQIRKLRSRSLSQIHEAAVRMRSEATDVKSTLAEIEDWLDKLMQLTEEPQNSMPDIIIWMIRGEKRLAYARIPAHQVLYSTSGENASGKYCGKTQTIFLKYPQEKNNGPKVPVELRVNIWLGLSAVEKKFNSFAEGTFTVFAEMYENQALMFGKWGTSGLVGRHKFSDVTGKIKLKREFFLPPKGWEWEGEWIVDPERSLLTEADAGHTEFTDEVYQNESRYPGGDWKPAEDTYTDANGDKAASPSELTCPPGWEWEDDAWSYDINRAVDEKGWEYGITIPPDHKPKSWVAAEKMYHTHRRRRLVRKRKKDLTQTASSTARAMEELQDQEGWEYASLIGWKFHWKQRSSDTFRRRRWRRKMAPSETHGAAAIFKLEGALGADTTEDGDEKSLEKQKHSATTVFGANTPIVSCNFDRVYIYHLRCYVYQARNLLALDKDSFSDPYAHICFLHRSKTTEIIHSTLNPTWDQTIIFDEVEIYGEPQTVLQNPPKVIMELFDNDQVGKDEFLGRSIFSPVVKLNSEMDITPKLLWHPVMNGDKACGDVLVTAELILRGKDGSNLPILPPQRAPNLYMVPQGIRPVVQLTAIEILAWGLRNMKNFQMASITSPSLVVECGGERVESVVIKNLKKTPNFPSSVLFMKVFLPKEELYMPPLVIKVIDHRQFGRKPVVGQCTIERLDRFRCDPYAGKEDIVPQLKASLLSAPPCRDIVIEMEDTKPLLASKLTEKEEEIVDWWSKFYASSGEHEKCGQYIQKGYSKLKIYNCELENVAEFEGLTDFSDTFKLYRGKSDENEDPSVVGEFKGSFRIYPLPDDPSVPAPPRQFRELPDSVPQECTVRIYIVRGLELQPQDNNGLCDPYIKITLGKKVIEDRDHYIPNTLNPVFGRMYELSCYLPQEKDLKISVYDYDTFTRDEKVGETIIDLENRFLSRFGSHCGIPEEYCVSGVNTWRDQLRPTQLLQNVARFKGFPQPILSEDGSRIRYGGRDYSLDEFEANKILHQHLGAPEERLALHILRTQGLVPEHVETRTLHSTFQPNISQGKLQMWVDVFPKSLGPPGPPFNITPRKAKKYYLRVIIWNTKDVILDEKSITGEEMSDIYVKGWIPGNEENKQKTDVHYRSLDGEGNFNWRFVFPFDYLPAEQLCIVAKKEHFWSIDQTEFRIPPRLIIQIWDNDKFSLDDYLGFLELDLRHTIIPAKSPEKCRLDMIPDLKAMNPLKAKTASLFEQKSMKGWWPCYAEKDGARVMAGKVEMTLEILNEKEADERPAGKGRDEPNMNPKLDLPNRPETSFLWFTNPCKTMKFIVWRRFKWVIIGLLFLLILLLFVAVLLYSLPNYLSMKIVKPNV
uniprot
proteins
disease_involvement
DISEASE: Angioedema, hereditary, 7 (HAE7) [MIM:619366]: A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade. {ECO:0000269|PubMed:32542751}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
234709
uniprot
proteins
mutagenesis
MUTAGEN 238..240; /note="NPF->SPL: Reduces interaction with EHD2."; /evidence="ECO:0000269|PubMed:18502764
uniprot
proteins
protein_family
Ferlin family
uniprot
proteins
pubmed
10574462
uniprot
proteins
pubmed
10607832
uniprot
proteins
pubmed
10995573
uniprot
proteins
pubmed
11959863
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17702744
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18495154
uniprot
proteins
pubmed
18502764
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24687993
uniprot
proteins
pubmed
26707827
uniprot
proteins
pubmed
32542751
uniprot
proteins
sequence_length
2061
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10607832, ECO:0000269|PubMed:18502764, ECO:0000269|PubMed:26707827}; Single-pass type IV membrane protein {ECO:0000305}. Nucleus membrane {ECO:0000269|PubMed:10607832}; Single-pass type IV membrane protein {ECO:0000305}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:11959863}; Single-pass type IV membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000269|PubMed:26707827}; Single-pass type IV membrane protein {ECO:0000305}. 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). Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures. {ECO:0000250|UniProtKB:Q69ZN7, ECO:0000269|PubMed:18502764}.
uniprot
proteins
transmembrane_region
TRANSMEM 2026..2046; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins