Protein detail

MYOF

Myoferlin (Fer-1-like protein 3)

Entry name MYOF	UniProt ID Q9NZM1	EVMP confidence score 0.50
Supporting publications (n) 2	Transmembrane count 1	Protein classification Disease related genesHuman disease related genesPlasma proteinsPotential drug targetsPredicted intracellular proteinsPredicted membrane proteinsTransporters

EVMP confidence score

Annotation confidence score; open for threshold definitions.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information13

Protein Names

Myoferlin (Fer-1-like protein 3)

Protein Class (7)

Disease related genesHuman disease related genesPlasma proteinsPotential drug targetsPredicted intracellular proteinsPredicted membrane proteinsTransporters

Protein Function (5)

Human disease related genes:Cardiovascular diseases:Vascular diseases
Predicted intracellular proteins
Potential drug targets
Transporters:Transporter channels and pores
Disease related genes

Transmembrane

2026..2046; Helical; Anchor for type IV membrane protein

Transmembrane Count

Ensembl

ENSG00000138119

Entrez Gene Symbol

MYOF

Gene Synonym (2)

FER1L3KIAA1207

Gene Description

Myoferlin

Chromosome

Position

93306429-93482334

Supporting publications (n)

EVMP confidence score

0.50

Fluorescence & Localization3

Tissue SpecificbrainCell SpecificBrain excitatory neurons

Function & Pathway5

Protein Function (5)

Human disease related genes:Cardiovascular diseases:Vascular diseases
Predicted intracellular proteins
Potential drug targets
Transporters:Transporter channels and pores
Disease related genes

Cellular Component (9)

Molecular Function (3)

Biological Process (3)

Mediation Categories

Fusion and delivery mediation

Relations & Evidence30

Ligand-Receptor Signaling (26)

26 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
extracellular	extracellular	OmniPath	No	No	No	Yes	No
intracellular	intracellular	LOCATE	No	No	No	Yes	No
intracellular	intracellular	ComPPI	No	No	No	Yes	No
intracellular	intracellular	GO_Intercell	No	No	No	Yes	No
intracellular	intracellular	UniProt_location	No	No	No	Yes	No
intracellular	intracellular	OmniPath	No	No	No	Yes	No
ferlin	intracellular_intercellular_related	HGNC	Yes	No	No	Yes	No
intracellular_intercellular_related	intracellular_intercellular_related	OmniPath	Yes	No	No	Yes	No
transmembrane	transmembrane	UniProt_location	No	No	No	Yes	No
transmembrane	transmembrane	UniProt_topology	No	No	No	Yes	No

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Protein Complex Composition (3)

3 records.

Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs
CHMP2A MATR3 MYOF RANBP2 RRP7A	O43633 P43243 P49792 Q9NZM1 Q9Y3A4	0:0:0:0:0	Havugimana2012	Havugimana2012:C_433
DHPS MAPK3 MYOF SUSD4 TRMT5 UBA1	P22314 P27361 P49366 Q32P41 Q5VX71 Q9NZM1	0:0:0:0:0:0	hu.MAP2
MYOF	Q9NZM1	3	PDB	PDB:6eel

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential Ultracentrifugation	Mass spectrometry	1	35563647

Sequence, Structure & Domains15

Sequences

Length

2,061

Mass

234,709

Sequence

MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLDFSSSLGIIVKDFETIGQNKLIGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDLVIGYDPPSAPHPNDLSGPSVPGMGGDGEEDEGDEDRLDNAVRGPGPKGPVGTVSEAQLARRLTKVKNSRRMLSNKPQDFQIRVRVIEGRQLSGNNIRPVVKVHVCGQTHRTRIKRGNNPFFDELFFYNVNMTPSELMDEIISIRVYNSHSLRADCLMGEFKIDVGFVYDEPGHAVMRKWLLLNDPEDTSSGSKGYMKVSMFVLGTGDEPPPERRDRDNDSDDVESNLLLPAGIALRWVTFLLKIYRAEDIPQMDDAFSQTVKEIFGGNADKKNLVDPFVEVSFAGKKVCTNIIEKNANPEWNQVVNLQIKFPSVCEKIKLTIYDWDRLTKNDVVGTTYLHLSKIAASGGEVEDFSSSGTGAASYTVNTGETEVGFVPTFGPCYLNLYGSPREYTGFPDPYDELNTGKGEGVAYRGRILVELATFLEKTPPDKKLEPISNDDLLVVEKYQRRRKYSLSAVFHSATMLQDVGEAIQFEVSIGNYGNKFDTTCKPLASTTQYSRAVFDGNYYYYLPWAHTKPVVTLTSYWEDISHRLDAVNTLLAMAERLQTNIEALKSGIQGKIPANQLAELWLKLIDEVIEDTRYTLPLTEGKANVTVLDTQIRKLRSRSLSQIHEAAVRMRSEATDVKSTLAEIEDWLDKLMQLTEEPQNSMPDIIIWMIRGEKRLAYARIPAHQVLYSTSGENASGKYCGKTQTIFLKYPQEKNNGPKVPVELRVNIWLGLSAVEKKFNSFAEGTFTVFAEMYENQALMFGKWGTSGLVGRHKFSDVTGKIKLKREFFLPPKGWEWEGEWIVDPERSLLTEADAGHTEFTDEVYQNESRYPGGDWKPAEDTYTDANGDKAASPSELTCPPGWEWEDDAWSYDINRAVDEKGWEYGITIPPDHKPKSWVAAEKMYHTHRRRRLVRKRKKDLTQTASSTARAMEELQDQEGWEYASLIGWKFHWKQRSSDTFRRRRWRRKMAPSETHGAAAIFKLEGALGADTTEDGDEKSLEKQKHSATTVFGANTPIVSCNFDRVYIYHLRCYVYQARNLLALDKDSFSDPYAHICFLHRSKTTEIIHSTLNPTWDQTIIFDEVEIYGEPQTVLQNPPKVIMELFDNDQVGKDEFLGRSIFSPVVKLNSEMDITPKLLWHPVMNGDKACGDVLVTAELILRGKDGSNLPILPPQRAPNLYMVPQGIRPVVQLTAIEILAWGLRNMKNFQMASITSPSLVVECGGERVESVVIKNLKKTPNFPSSVLFMKVFLPKEELYMPPLVIKVIDHRQFGRKPVVGQCTIERLDRFRCDPYAGKEDIVPQLKASLLSAPPCRDIVIEMEDTKPLLASKLTEKEEEIVDWWSKFYASSGEHEKCGQYIQKGYSKLKIYNCELENVAEFEGLTDFSDTFKLYRGKSDENEDPSVVGEFKGSFRIYPLPDDPSVPAPPRQFRELPDSVPQECTVRIYIVRGLELQPQDNNGLCDPYIKITLGKKVIEDRDHYIPNTLNPVFGRMYELSCYLPQEKDLKISVYDYDTFTRDEKVGETIIDLENRFLSRFGSHCGIPEEYCVSGVNTWRDQLRPTQLLQNVARFKGFPQPILSEDGSRIRYGGRDYSLDEFEANKILHQHLGAPEERLALHILRTQGLVPEHVETRTLHSTFQPNISQGKLQMWVDVFPKSLGPPGPPFNITPRKAKKYYLRVIIWNTKDVILDEKSITGEEMSDIYVKGWIPGNEENKQKTDVHYRSLDGEGNFNWRFVFPFDYLPAEQLCIVAKKEHFWSIDQTEFRIPPRLIIQIWDNDKFSLDDYLGFLELDLRHTIIPAKSPEKCRLDMIPDLKAMNPLKAKTASLFEQKSMKGWWPCYAEKDGARVMAGKVEMTLEILNEKEADERPAGKGRDEPNMNPKLDLPNRPETSFLWFTNPCKTMKFIVWRRFKWVIIGLLFLLILLLFVAVLLYSLPNYLSMKIVKPNV

Alternative Products

Event=Alternative splicing; Named isoforms=8; Name=1; IsoId=Q9NZM1-1; Sequence=Displayed; Name=2; IsoId=Q9NZM1-2; Sequence=VSP_001515; Name=3; IsoId=Q9NZM1-3; Sequence=VSP_001516, VSP_001517; Name=4; IsoId=Q9NZM1-4; Sequence=VSP_023797, VSP_023798; Name=5; IsoId=Q9NZM1-5; Sequence=VSP_023802; Name=6; IsoId=Q9NZM1-6; Sequence=VSP_023801; Name=7; IsoId=Q9NZM1-7; Sequence=VSP_023800; Name=8; IsoId=Q9NZM1-8; Sequence=VSP_023796, VSP_023799

Alternative Sequence

1..87; MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLDFSSSLGIIVKDFETIGQNKLIGTATVA -> MRPPKEGSGSNICCSAIFAVLQPPLVISRQTRSGMDLQQTPTDLQ (in isoform 2); 1..29; MLRVIVESASNIPKTKFGKPDPIVSVIFK -> MIPPNSPPNRT (in isoform 8); 146..160; DGEEDEGDEDRLDNA -> KLTLLKAQPPPGGGC (in isoform 4); 161..2061; Missing (in isoform 4); 438..2061; Missing (in isoform 8); 446..2061; Missing (in isoform 7); 473..485; Missing (in isoform 6); 1224..1707; Missing (in isoform 5); 1442; K -> KCLSSMSTALSKMASPATVH (in isoform 3); 1757..1787; QGKLQMWVDVFPKSLGPPGPPFNITPRKAKK -> R (in isoform 3)

3D Structural Models

Turn

924..927; 964..966; 1030..1034

Helix

89..91

Beta Strand

1..10; 16..18; 22..28; 31..34; 45..53; 64..71; 74..77; 79..87; 93..95; 97..107; 113..124; 929..939; 942..944; 947..954; 977..979; 985..987; 994..996; 1017..1028

3D Structure

Electron microscopy (5); NMR spectroscopy (2); X-ray crystallography (1)

Domain & Motif Annotations

Compositional Bias

146..156; Acidic residues

Domain (CC)

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

Domain (FT)

1..101; C2 1; 181..300; C2 2; 339..474; C2 3; 1123..1251; C2 4; 1282..1410; C2 5; 1536..1654; C2 6; 1772..1920; C2 7

Region

123..172; Disordered; 186..281; Necessary for interaction with EHD2; 323..342; Disordered; 938..967; Disordered

Protein Families

Ferlin family

Sequence Similarities

Belongs to the ferlin family.

Clinical Relevance1

Antibody

HPA014245

Supporting Publications2

PMID	Title	Abstract
26775013	Proteomic characterization of circulating extracellular vesicles identifies novel serum myeloma associated markers.	No abstract available
41201090	Identification of molecular markers and exploration of the oncogenic role of exomeres in hepatocellular carcinoma.	No abstract available