Protein detail
MYOF
Myoferlin (Fer-1-like protein 3)
Protein symbol MYOF | UniProt ID | EVMP score 0.50 |
Frequency 2 | Transmembrane count 1 | Protein classification Disease related genesHuman disease related genesPlasma proteinsPotential drug targetsPredicted intracellular proteinsPredicted membrane proteinsTransporters |
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
Myoferlin (Fer-1-like protein 3)
Protein Class
Disease related genesHuman disease related genesPlasma proteinsPotential drug targetsPredicted intracellular proteinsPredicted membrane proteinsTransporters
Protein Function
- 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
1
Ensembl
Entrez Gene Symbol
Gene Synonym
FER1L3KIAA1207
Gene Description
Myoferlin
Chromosome
10
Position
93306429-93482334
Frequency
2
EVMP Score
0.50
Fluorescence & Localization
Tissue SpecificbrainCell SpecificBrain excitatory neurons
Function & Pathway
Protein Function
- Human disease related genes:Cardiovascular diseases:Vascular diseases
- Predicted intracellular proteins
- Potential drug targets
- Transporters:Transporter channels and pores
- Disease related genes
Cellular Component
Molecular Function
Biological Process
Mediation Categories
Fusion and delivery mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
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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Regulatory Interaction Network
0 records.
Protein Complex Composition
3 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| CHMP2AMATR3MYOFRANBP2RRP7A | O43633P43243P49792Q9NZM1Q9Y3A4 | 0:0:0:0:0 | Havugimana2012 | Havugimana2012:C_433 | ||
| DHPSMAPK3MYOFSUSD4TRMT5UBA1 | P22314P27361P49366Q32P41Q5VX71Q9NZM1 | 0:0:0:0:0:0 | hu.MAP2 | |||
| MYOF | Q9NZM1 | 3 | PDB | PDB:6eel |
Isolation & Detection Technology
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Differential Ultracentrifugation | Mass spectrometry | 1 | 35563647 |
Sequence, Structure & Domains
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 Relevance
Antibody