ID  Q9NZM1;
PN  Myoferlin;
GN  MYOF;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Comments: 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}.
DR  UNIPROT: Q9NZM1;
DR  UNIPROT: B3KQN5;
DR  UNIPROT: Q5VWW2;
DR  UNIPROT: Q5VWW3;
DR  UNIPROT: Q5VWW4;
DR  UNIPROT: Q5VWW5;
DR  UNIPROT: Q7Z642;
DR  UNIPROT: Q8IWH0;
DR  UNIPROT: Q9HBU3;
DR  UNIPROT: Q9NZM0;
DR  UNIPROT: Q9ULL3;
DR  UNIPROT: Q9Y4U4;
DR  PDB: 2DMH;
DR  PDB: 2K2O;
DR  PDB: 6EEL;
DR  Pfam: PF00168;
DR  Pfam: PF08165;
DR  Pfam: PF08150;
DR  Pfam: PF08151;
DR  Pfam: PF16165;
DR  PROSITE: PS50004;
DR  OMIM: 604603;
DR  OMIM: 619366;
DR  DisGeNET: 26509;
DE  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}.
DE  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.
DE  Reference Proteome: Yes;
DE  Interaction: O43542; IntAct: EBI-11129266; Score: 0.35
DE  Interaction: P03246; IntAct: EBI-11722343; Score: 0.35
DE  Interaction: P13285; IntAct: EBI-11733017; Score: 0.35
DE  Interaction: P63104; IntAct: EBI-7198973; Score: 0.40
DE  Interaction: Q8BH64; IntAct: EBI-1994435; Score: 0.44
DE  Interaction: P38606; IntAct: EBI-4324466; Score: 0.35
DE  Interaction: P03177; IntAct: EBI-11721652; Score: 0.35
DE  Interaction: P03182; IntAct: EBI-11721938; Score: 0.35
DE  Interaction: P03209; IntAct: EBI-11722090; Score: 0.35
DE  Interaction: P03225; IntAct: EBI-11722220; Score: 0.35
DE  Interaction: P06460; IntAct: EBI-11723082; Score: 0.35
DE  Interaction: P06461; IntAct: EBI-11723785; Score: 0.35
DE  Interaction: P06463; IntAct: EBI-11724048; Score: 0.35
DE  Interaction: P06927; IntAct: EBI-11724813; Score: 0.35
DE  Interaction: P0CK49; IntAct: EBI-11725356; Score: 0.35
DE  Interaction: P0C739; IntAct: EBI-11725101; Score: 0.35
DE  Interaction: P0CK56; IntAct: EBI-11725466; Score: 0.35
DE  Interaction: P0CK58; IntAct: EBI-11732874; Score: 0.35
DE  Interaction: P30119; IntAct: EBI-11733103; Score: 0.35
DE  Interaction: P69901; IntAct: EBI-11733364; Score: 0.35
DE  Interaction: Q2MG95; IntAct: EBI-11733653; Score: 0.35
DE  Interaction: Q2MG96; IntAct: EBI-11733890; Score: 0.35
DE  Interaction: Q69117; IntAct: EBI-11733954; Score: 0.35
DE  Interaction: Q8AZK7; IntAct: EBI-11734159; Score: 0.35
DE  Interaction: Q8AZJ3; IntAct: EBI-11734105; Score: 0.35
DE  Interaction: Q9DUG7; IntAct: EBI-11734217; Score: 0.35
DE  Interaction: P36895; IntAct: EBI-11008521; Score: 0.35
DE  Interaction: P35278; IntAct: EBI-11012136; Score: 0.35
DE  Interaction: Q8VC57; IntAct: EBI-11027413; Score: 0.35
DE  Interaction: Q9JLQ0; IntAct: EBI-11033702; Score: 0.35
DE  Interaction: P51148; IntAct: EBI-11046231; Score: 0.35
DE  Interaction: P51149; IntAct: EBI-11050319; Score: 0.35
DE  Interaction: Q91YN9; IntAct: EBI-11052510; Score: 0.35
DE  Interaction: Q9ERB0; IntAct: EBI-11068003; Score: 0.35
DE  Interaction: Q14108; IntAct: EBI-11072280; Score: 0.35
DE  Interaction: G3X972; IntAct: EBI-11079358; Score: 0.35
DE  Interaction: Q08380; IntAct: EBI-11108487; Score: 0.35
DE  Interaction: Q07797; IntAct: EBI-11108624; Score: 0.35
DE  Interaction: Q9R0Q3; IntAct: EBI-11111571; Score: 0.35
DE  Interaction: P46379; IntAct: EBI-11154173; Score: 0.35
DE  Interaction: Q5T3F8; IntAct: EBI-11155257; Score: 0.35
DE  Interaction: Q6SPF0; IntAct: EBI-11160311; Score: 0.35
DE  Interaction: Q9Y3E0; IntAct: EBI-11161387; Score: 0.35
DE  Interaction: Q6IQ23; IntAct: EBI-16398399; Score: 0.35
DE  Interaction: P11279; IntAct: EBI-16795491; Score: 0.27
DE  Interaction: P21926; IntAct: EBI-20977405; Score: 0.35
DE  Interaction: P49716; IntAct: EBI-21259421; Score: 0.35
DE  Interaction: P03372; IntAct: EBI-21301141; Score: 0.35
DE  Interaction: P09613; IntAct: EBI-21497303; Score: 0.35
DE  Interaction: P13569; IntAct: EBI-25416349; Score: 0.35
DE  Interaction: Q5NIP8; IntAct: EBI-22298766; Score: 0.37
DE  Interaction: Q9C0B5; IntAct: EBI-25637382; Score: 0.35
DE  Interaction: P0DTC3; IntAct: EBI-25686340; Score: 0.35
DE  Interaction: A0A0F6B1Q8; IntAct: EBI-27034088; Score: 0.35
DE  Interaction: Q13363; IntAct: EBI-27044482; Score: 0.35
DE  Interaction: P35226; IntAct: EBI-27108918; Score: 0.35
DE  Interaction: Q8N488; IntAct: EBI-27110926; Score: 0.35
DE  Interaction: Q99592; IntAct: EBI-27093179; Score: 0.35
DE  Interaction: P42695; IntAct: EBI-28951349; Score: 0.35
GO  GO:0005901;
GO  GO:0031410;
GO  GO:0030659;
GO  GO:0070062;
GO  GO:0016021;
GO  GO:0043231;
GO  GO:0005635;
GO  GO:0031965;
GO  GO:0005886;
GO  GO:0046872;
GO  GO:0005543;
GO  GO:0008015;
GO  GO:0061025;
GO  GO:0006936;
GO  GO:0007520;
GO  GO:0007009;
GO  GO:0001778;
GO  GO:0033292;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLDFSSSLGIIVKDFETIGQNKL
SQ  IGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDLVIGYDPPSAPHPNDLSGPSVPGMGGDGEEDEGDEDRLDNA
SQ  VRGPGPKGPVGTVSEAQLARRLTKVKNSRRMLSNKPQDFQIRVRVIEGRQLSGNNIRPVVKVHVCGQTHRTRIKRGNNPF
SQ  FDELFFYNVNMTPSELMDEIISIRVYNSHSLRADCLMGEFKIDVGFVYDEPGHAVMRKWLLLNDPEDTSSGSKGYMKVSM
SQ  FVLGTGDEPPPERRDRDNDSDDVESNLLLPAGIALRWVTFLLKIYRAEDIPQMDDAFSQTVKEIFGGNADKKNLVDPFVE
SQ  VSFAGKKVCTNIIEKNANPEWNQVVNLQIKFPSVCEKIKLTIYDWDRLTKNDVVGTTYLHLSKIAASGGEVEDFSSSGTG
SQ  AASYTVNTGETEVGFVPTFGPCYLNLYGSPREYTGFPDPYDELNTGKGEGVAYRGRILVELATFLEKTPPDKKLEPISND
SQ  DLLVVEKYQRRRKYSLSAVFHSATMLQDVGEAIQFEVSIGNYGNKFDTTCKPLASTTQYSRAVFDGNYYYYLPWAHTKPV
SQ  VTLTSYWEDISHRLDAVNTLLAMAERLQTNIEALKSGIQGKIPANQLAELWLKLIDEVIEDTRYTLPLTEGKANVTVLDT
SQ  QIRKLRSRSLSQIHEAAVRMRSEATDVKSTLAEIEDWLDKLMQLTEEPQNSMPDIIIWMIRGEKRLAYARIPAHQVLYST
SQ  SGENASGKYCGKTQTIFLKYPQEKNNGPKVPVELRVNIWLGLSAVEKKFNSFAEGTFTVFAEMYENQALMFGKWGTSGLV
SQ  GRHKFSDVTGKIKLKREFFLPPKGWEWEGEWIVDPERSLLTEADAGHTEFTDEVYQNESRYPGGDWKPAEDTYTDANGDK
SQ  AASPSELTCPPGWEWEDDAWSYDINRAVDEKGWEYGITIPPDHKPKSWVAAEKMYHTHRRRRLVRKRKKDLTQTASSTAR
SQ  AMEELQDQEGWEYASLIGWKFHWKQRSSDTFRRRRWRRKMAPSETHGAAAIFKLEGALGADTTEDGDEKSLEKQKHSATT
SQ  VFGANTPIVSCNFDRVYIYHLRCYVYQARNLLALDKDSFSDPYAHICFLHRSKTTEIIHSTLNPTWDQTIIFDEVEIYGE
SQ  PQTVLQNPPKVIMELFDNDQVGKDEFLGRSIFSPVVKLNSEMDITPKLLWHPVMNGDKACGDVLVTAELILRGKDGSNLP
SQ  ILPPQRAPNLYMVPQGIRPVVQLTAIEILAWGLRNMKNFQMASITSPSLVVECGGERVESVVIKNLKKTPNFPSSVLFMK
SQ  VFLPKEELYMPPLVIKVIDHRQFGRKPVVGQCTIERLDRFRCDPYAGKEDIVPQLKASLLSAPPCRDIVIEMEDTKPLLA
SQ  SKLTEKEEEIVDWWSKFYASSGEHEKCGQYIQKGYSKLKIYNCELENVAEFEGLTDFSDTFKLYRGKSDENEDPSVVGEF
SQ  KGSFRIYPLPDDPSVPAPPRQFRELPDSVPQECTVRIYIVRGLELQPQDNNGLCDPYIKITLGKKVIEDRDHYIPNTLNP
SQ  VFGRMYELSCYLPQEKDLKISVYDYDTFTRDEKVGETIIDLENRFLSRFGSHCGIPEEYCVSGVNTWRDQLRPTQLLQNV
SQ  ARFKGFPQPILSEDGSRIRYGGRDYSLDEFEANKILHQHLGAPEERLALHILRTQGLVPEHVETRTLHSTFQPNISQGKL
SQ  QMWVDVFPKSLGPPGPPFNITPRKAKKYYLRVIIWNTKDVILDEKSITGEEMSDIYVKGWIPGNEENKQKTDVHYRSLDG
SQ  EGNFNWRFVFPFDYLPAEQLCIVAKKEHFWSIDQTEFRIPPRLIIQIWDNDKFSLDDYLGFLELDLRHTIIPAKSPEKCR
SQ  LDMIPDLKAMNPLKAKTASLFEQKSMKGWWPCYAEKDGARVMAGKVEMTLEILNEKEADERPAGKGRDEPNMNPKLDLPN
SQ  RPETSFLWFTNPCKTMKFIVWRRFKWVIIGLLFLLILLLFVAVLLYSLPNYLSMKIVKPNV
//