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Entry version 180 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Myoferlin

Gene

MYOF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Ca2+By similarityNote: Binds Ca2+. The ions are bound to the C2 1 domain.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9NZM1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Myoferlin
Alternative name(s):
Fer-1-like protein 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MYOF
Synonyms:FER1L3, KIAA1207
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:3656 MYOF

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604603 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZM1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 2025CytoplasmicSequence analysisAdd BLAST2025
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei2026 – 2046HelicalSequence analysisAdd BLAST21
Topological domaini2047 – 2061ExtracellularSequence analysisAdd BLAST15

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi238 – 240NPF → SPL: Reduces interaction with EHD2. 1 Publication3

Organism-specific databases

DisGeNET

More...
DisGeNETi
26509

Open Targets

More...
OpenTargetsi
ENSG00000138119

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164723288

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZM1

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MYOF

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20139241

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000578841 – 2061MyoferlinAdd BLAST2061

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei174PhosphoserineCombined sources1
Modified residuei553N6-acetyllysineBy similarity1
Modified residuei729PhosphoserineCombined sources1
Modified residuei884N6-acetyllysineCombined sources1
Modified residuei1507N6-acetyllysineBy similarity1
Modified residuei1915PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-545
CPTAC-546

Encyclopedia of Proteome Dynamics

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EPDi
Q9NZM1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NZM1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NZM1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZM1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NZM1

PeptideAtlas

More...
PeptideAtlasi
Q9NZM1

PRoteomics IDEntifications database

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PRIDEi
Q9NZM1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83437 [Q9NZM1-1]
83438 [Q9NZM1-2]
83439 [Q9NZM1-3]
83440 [Q9NZM1-4]
83441 [Q9NZM1-5]
83442 [Q9NZM1-6]
83443 [Q9NZM1-7]
83444 [Q9NZM1-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZM1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NZM1

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9NZM1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138119 Expressed in 227 organ(s), highest expression level in nasal cavity epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZM1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZM1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA014245

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DNM2 and KDR.

Interacts with EHD1 (By similarity).

Interacts with EHD2; the interaction is direct (PubMed:18502764).

Interacts with RIPOR2 (PubMed:24687993).

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117715, 42 interactors

Protein interaction database and analysis system

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IntActi
Q9NZM1, 48 interactors

Molecular INTeraction database

More...
MINTi
Q9NZM1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000352208

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12061
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NZM1

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9NZM1

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 85C2 1PROSITE-ProRule annotationAdd BLAST85
Domaini186 – 281C2 2PROSITE-ProRule annotationAdd BLAST96
Domaini345 – 458C2 3PROSITE-ProRule annotationAdd BLAST114
Domaini1126 – 1231C2 4PROSITE-ProRule annotationAdd BLAST106
Domaini1538 – 1638C2 5PROSITE-ProRule annotationAdd BLAST101

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni186 – 281Necessary for interaction with EHD21 PublicationAdd BLAST96

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1072 – 1078Poly-Arg7

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ferlin family.Curated

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1326 Eukaryota
ENOG410XPT2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154741

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NZM1

KEGG Orthology (KO)

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KOi
K22125

Identification of Orthologs from Complete Genome Data

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OMAi
RGWWPCS

Database of Orthologous Groups

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OrthoDBi
20162at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZM1

TreeFam database of animal gene trees

More...
TreeFami
TF316871

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08373 C2A_Ferlin, 1 hit
cd04011 C2B_Ferlin, 1 hit
cd04018 C2C_Ferlin, 1 hit
cd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
cd08374 C2F_Ferlin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.150, 6 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037726 C2A_Ferlin
IPR037720 C2B_Ferlin
IPR037722 C2C_Ferlin
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037725 C2F_Ferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012560 Ferlin_A-domain
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR029999 Myoferlin
IPR006614 Peroxin/Ferlin

The PANTHER Classification System

More...
PANTHERi
PTHR12546 PTHR12546, 1 hit
PTHR12546:SF55 PTHR12546:SF55, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168 C2, 7 hits
PF08165 FerA, 1 hit
PF08150 FerB, 1 hit
PF08151 FerI, 1 hit
PF16165 Ferlin_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239 C2, 7 hits
SM00694 DysFC, 2 hits
SM00693 DysFN, 2 hits
SM01200 FerA, 1 hit
SM01201 FerB, 1 hit
SM01202 FerI, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50004 C2, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZM1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLRVIVESAS NIPKTKFGKP DPIVSVIFKD EKKKTKKVDN ELNPVWNEIL
60 70 80 90 100
EFDLRGIPLD FSSSLGIIVK DFETIGQNKL IGTATVALKD LTGDQSRSLP
110 120 130 140 150
YKLISLLNEK GQDTGATIDL VIGYDPPSAP HPNDLSGPSV PGMGGDGEED
160 170 180 190 200
EGDEDRLDNA VRGPGPKGPV GTVSEAQLAR RLTKVKNSRR MLSNKPQDFQ
210 220 230 240 250
IRVRVIEGRQ LSGNNIRPVV KVHVCGQTHR TRIKRGNNPF FDELFFYNVN
260 270 280 290 300
MTPSELMDEI ISIRVYNSHS LRADCLMGEF KIDVGFVYDE PGHAVMRKWL
310 320 330 340 350
LLNDPEDTSS GSKGYMKVSM FVLGTGDEPP PERRDRDNDS DDVESNLLLP
360 370 380 390 400
AGIALRWVTF LLKIYRAEDI PQMDDAFSQT VKEIFGGNAD KKNLVDPFVE
410 420 430 440 450
VSFAGKKVCT NIIEKNANPE WNQVVNLQIK FPSVCEKIKL TIYDWDRLTK
460 470 480 490 500
NDVVGTTYLH LSKIAASGGE VEDFSSSGTG AASYTVNTGE TEVGFVPTFG
510 520 530 540 550
PCYLNLYGSP REYTGFPDPY DELNTGKGEG VAYRGRILVE LATFLEKTPP
560 570 580 590 600
DKKLEPISND DLLVVEKYQR RRKYSLSAVF HSATMLQDVG EAIQFEVSIG
610 620 630 640 650
NYGNKFDTTC KPLASTTQYS RAVFDGNYYY YLPWAHTKPV VTLTSYWEDI
660 670 680 690 700
SHRLDAVNTL LAMAERLQTN IEALKSGIQG KIPANQLAEL WLKLIDEVIE
710 720 730 740 750
DTRYTLPLTE GKANVTVLDT QIRKLRSRSL SQIHEAAVRM RSEATDVKST
760 770 780 790 800
LAEIEDWLDK LMQLTEEPQN SMPDIIIWMI RGEKRLAYAR IPAHQVLYST
810 820 830 840 850
SGENASGKYC GKTQTIFLKY PQEKNNGPKV PVELRVNIWL GLSAVEKKFN
860 870 880 890 900
SFAEGTFTVF AEMYENQALM FGKWGTSGLV GRHKFSDVTG KIKLKREFFL
910 920 930 940 950
PPKGWEWEGE WIVDPERSLL TEADAGHTEF TDEVYQNESR YPGGDWKPAE
960 970 980 990 1000
DTYTDANGDK AASPSELTCP PGWEWEDDAW SYDINRAVDE KGWEYGITIP
1010 1020 1030 1040 1050
PDHKPKSWVA AEKMYHTHRR RRLVRKRKKD LTQTASSTAR AMEELQDQEG
1060 1070 1080 1090 1100
WEYASLIGWK FHWKQRSSDT FRRRRWRRKM APSETHGAAA IFKLEGALGA
1110 1120 1130 1140 1150
DTTEDGDEKS LEKQKHSATT VFGANTPIVS CNFDRVYIYH LRCYVYQARN
1160 1170 1180 1190 1200
LLALDKDSFS DPYAHICFLH RSKTTEIIHS TLNPTWDQTI IFDEVEIYGE
1210 1220 1230 1240 1250
PQTVLQNPPK VIMELFDNDQ VGKDEFLGRS IFSPVVKLNS EMDITPKLLW
1260 1270 1280 1290 1300
HPVMNGDKAC GDVLVTAELI LRGKDGSNLP ILPPQRAPNL YMVPQGIRPV
1310 1320 1330 1340 1350
VQLTAIEILA WGLRNMKNFQ MASITSPSLV VECGGERVES VVIKNLKKTP
1360 1370 1380 1390 1400
NFPSSVLFMK VFLPKEELYM PPLVIKVIDH RQFGRKPVVG QCTIERLDRF
1410 1420 1430 1440 1450
RCDPYAGKED IVPQLKASLL SAPPCRDIVI EMEDTKPLLA SKLTEKEEEI
1460 1470 1480 1490 1500
VDWWSKFYAS SGEHEKCGQY IQKGYSKLKI YNCELENVAE FEGLTDFSDT
1510 1520 1530 1540 1550
FKLYRGKSDE NEDPSVVGEF KGSFRIYPLP DDPSVPAPPR QFRELPDSVP
1560 1570 1580 1590 1600
QECTVRIYIV RGLELQPQDN NGLCDPYIKI TLGKKVIEDR DHYIPNTLNP
1610 1620 1630 1640 1650
VFGRMYELSC YLPQEKDLKI SVYDYDTFTR DEKVGETIID LENRFLSRFG
1660 1670 1680 1690 1700
SHCGIPEEYC VSGVNTWRDQ LRPTQLLQNV ARFKGFPQPI LSEDGSRIRY
1710 1720 1730 1740 1750
GGRDYSLDEF EANKILHQHL GAPEERLALH ILRTQGLVPE HVETRTLHST
1760 1770 1780 1790 1800
FQPNISQGKL QMWVDVFPKS LGPPGPPFNI TPRKAKKYYL RVIIWNTKDV
1810 1820 1830 1840 1850
ILDEKSITGE EMSDIYVKGW IPGNEENKQK TDVHYRSLDG EGNFNWRFVF
1860 1870 1880 1890 1900
PFDYLPAEQL CIVAKKEHFW SIDQTEFRIP PRLIIQIWDN DKFSLDDYLG
1910 1920 1930 1940 1950
FLELDLRHTI IPAKSPEKCR LDMIPDLKAM NPLKAKTASL FEQKSMKGWW
1960 1970 1980 1990 2000
PCYAEKDGAR VMAGKVEMTL EILNEKEADE RPAGKGRDEP NMNPKLDLPN
2010 2020 2030 2040 2050
RPETSFLWFT NPCKTMKFIV WRRFKWVIIG LLFLLILLLF VAVLLYSLPN
2060
YLSMKIVKPN V
Length:2,061
Mass (Da):234,709
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i61D9E9447B40781C
GO
Isoform 2 (identifier: Q9NZM1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-87: MLRVIVESAS...NKLIGTATVA → MRPPKEGSGS...DLQQTPTDLQ

Show »
Length:2,019
Mass (Da):229,895
Checksum:i1B35CBF6FAD0479B
GO
Isoform 3 (identifier: Q9NZM1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1442-1442: K → KCLSSMSTALSKMASPATVH
     1757-1787: QGKLQMWVDVFPKSLGPPGPPFNITPRKAKK → R

Show »
Length:2,050
Mass (Da):233,324
Checksum:i7E4B68C00BD7941E
GO
Isoform 4 (identifier: Q9NZM1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-160: DGEEDEGDEDRLDNA → KLTLLKAQPPPGGGC
     161-2061: Missing.

Show »
Length:160
Mass (Da):17,135
Checksum:i6187C6E291727B4E
GO
Isoform 5 (identifier: Q9NZM1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1224-1707: Missing.

Show »
Length:1,577
Mass (Da):179,551
Checksum:iE4E3880E7B8C1231
GO
Isoform 6 (identifier: Q9NZM1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     473-485: Missing.

Note: No experimental confirmation available.
Show »
Length:2,048
Mass (Da):233,477
Checksum:i1AB532E8DD2A2622
GO
Isoform 7 (identifier: Q9NZM1-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     446-2061: Missing.

Note: No experimental confirmation available.
Show »
Length:445
Mass (Da):49,720
Checksum:i6A86A4B03A1CE25A
GO
Isoform 8 (identifier: Q9NZM1-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MLRVIVESASNIPKTKFGKPDPIVSVIFK → MIPPNSPPNRT
     438-2061: Missing.

Note: No experimental confirmation available.
Show »
Length:419
Mass (Da):46,695
Checksum:i0E54F263A4C5D385
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YD14H0YD14_HUMAN
Myoferlin
MYOF
1,177Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH40110 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAG52097 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti251M → T in AAG23737 (PubMed:10995573).Curated1
Sequence conflicti621R → W in CAB46370 (PubMed:17974005).Curated1
Sequence conflicti659T → A in AAG23737 (PubMed:10995573).Curated1
Sequence conflicti659T → A in CAB46370 (PubMed:17974005).Curated1
Sequence conflicti846E → A in AAF27177 (PubMed:10607832).Curated1
Sequence conflicti1136V → D in CAB46370 (PubMed:17974005).Curated1
Sequence conflicti1163Y → F in CAB46370 (PubMed:17974005).Curated1
Sequence conflicti1544E → G in AAG23737 (PubMed:10995573).Curated1
Sequence conflicti1544E → G in CAB46370 (PubMed:17974005).Curated1
Sequence conflicti1574C → R in CAB46370 (PubMed:17974005).Curated1
Sequence conflicti1723P → H in AAF27177 (PubMed:10607832).Curated1
Sequence conflicti1834H → R in CAB46370 (PubMed:17974005).Curated1
Sequence conflicti1946 – 1952MKGWWPC → IRMVAM in AAF27177 (PubMed:10607832).Curated7

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0490581136V → I. Corresponds to variant dbSNP:rs36032890Ensembl.1
Natural variantiVAR_0312501198Y → F. Corresponds to variant dbSNP:rs12256834Ensembl.1
Natural variantiVAR_0312511399R → C. Corresponds to variant dbSNP:rs11187393Ensembl.1
Natural variantiVAR_0490591701G → A. Corresponds to variant dbSNP:rs34000599Ensembl.1
Natural variantiVAR_0312521783R → Q. Corresponds to variant dbSNP:rs11594445Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0015151 – 87MLRVI…TATVA → MRPPKEGSGSNICCSAIFAV LQPPLVISRQTRSGMDLQQT PTDLQ in isoform 2. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_0237961 – 29MLRVI…SVIFK → MIPPNSPPNRT in isoform 8. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_023797146 – 160DGEED…RLDNA → KLTLLKAQPPPGGGC in isoform 4. CuratedAdd BLAST15
Alternative sequenceiVSP_023798161 – 2061Missing in isoform 4. CuratedAdd BLAST1901
Alternative sequenceiVSP_023799438 – 2061Missing in isoform 8. 1 PublicationAdd BLAST1624
Alternative sequenceiVSP_023800446 – 2061Missing in isoform 7. CuratedAdd BLAST1616
Alternative sequenceiVSP_023801473 – 485Missing in isoform 6. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_0238021224 – 1707Missing in isoform 5. 1 PublicationAdd BLAST484
Alternative sequenceiVSP_0015161442K → KCLSSMSTALSKMASPATVH in isoform 3. 1 Publication1
Alternative sequenceiVSP_0015171757 – 1787QGKLQ…RKAKK → R in isoform 3. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF182316 mRNA Translation: AAF27176.1
AF182317 mRNA Translation: AAF27177.1
AF207990 mRNA Translation: AAG23737.1
AB033033 mRNA Translation: BAA86521.2
AL360229 Genomic DNA No translation available.
AL365364 Genomic DNA No translation available.
BC040110 mRNA Translation: AAH40110.1 Sequence problems.
BC052617 mRNA Translation: AAH52617.1
AL096713 mRNA Translation: CAB46370.1
AK075258 mRNA Translation: BAG52097.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41550.1 [Q9NZM1-6]
CCDS41551.1 [Q9NZM1-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T12449

NCBI Reference Sequences

More...
RefSeqi
NP_038479.1, NM_013451.3 [Q9NZM1-1]
NP_579899.1, NM_133337.2 [Q9NZM1-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358334; ENSP00000351094; ENSG00000138119 [Q9NZM1-6]
ENST00000359263; ENSP00000352208; ENSG00000138119 [Q9NZM1-1]
ENST00000371488; ENSP00000360543; ENSG00000138119 [Q9NZM1-4]
ENST00000371489; ENSP00000360544; ENSG00000138119 [Q9NZM1-7]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26509

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26509

UCSC genome browser

More...
UCSCi
uc001kin.4 human [Q9NZM1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF182316 mRNA Translation: AAF27176.1
AF182317 mRNA Translation: AAF27177.1
AF207990 mRNA Translation: AAG23737.1
AB033033 mRNA Translation: BAA86521.2
AL360229 Genomic DNA No translation available.
AL365364 Genomic DNA No translation available.
BC040110 mRNA Translation: AAH40110.1 Sequence problems.
BC052617 mRNA Translation: AAH52617.1
AL096713 mRNA Translation: CAB46370.1
AK075258 mRNA Translation: BAG52097.1 Different initiation.
CCDSiCCDS41550.1 [Q9NZM1-6]
CCDS41551.1 [Q9NZM1-1]
PIRiT12449
RefSeqiNP_038479.1, NM_013451.3 [Q9NZM1-1]
NP_579899.1, NM_133337.2 [Q9NZM1-6]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DMHNMR-A1-127[»]
2K2ONMR-A923-1040[»]
6EELX-ray1.93A/B/C1-125[»]
SMRiQ9NZM1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi117715, 42 interactors
IntActiQ9NZM1, 48 interactors
MINTiQ9NZM1
STRINGi9606.ENSP00000352208

PTM databases

iPTMnetiQ9NZM1
PhosphoSitePlusiQ9NZM1
SwissPalmiQ9NZM1

Polymorphism and mutation databases

BioMutaiMYOF
DMDMi20139241

Proteomic databases

CPTACiCPTAC-545
CPTAC-546
EPDiQ9NZM1
jPOSTiQ9NZM1
MassIVEiQ9NZM1
MaxQBiQ9NZM1
PaxDbiQ9NZM1
PeptideAtlasiQ9NZM1
PRIDEiQ9NZM1
ProteomicsDBi83437 [Q9NZM1-1]
83438 [Q9NZM1-2]
83439 [Q9NZM1-3]
83440 [Q9NZM1-4]
83441 [Q9NZM1-5]
83442 [Q9NZM1-6]
83443 [Q9NZM1-7]
83444 [Q9NZM1-8]

Genome annotation databases

EnsembliENST00000358334; ENSP00000351094; ENSG00000138119 [Q9NZM1-6]
ENST00000359263; ENSP00000352208; ENSG00000138119 [Q9NZM1-1]
ENST00000371488; ENSP00000360543; ENSG00000138119 [Q9NZM1-4]
ENST00000371489; ENSP00000360544; ENSG00000138119 [Q9NZM1-7]
GeneIDi26509
KEGGihsa:26509
UCSCiuc001kin.4 human [Q9NZM1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26509
DisGeNETi26509

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MYOF
HGNCiHGNC:3656 MYOF
HPAiHPA014245
MIMi604603 gene
neXtProtiNX_Q9NZM1
OpenTargetsiENSG00000138119
PharmGKBiPA164723288

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00940000154741
InParanoidiQ9NZM1
KOiK22125
OMAiRGWWPCS
OrthoDBi20162at2759
PhylomeDBiQ9NZM1
TreeFamiTF316871

Enzyme and pathway databases

SIGNORiQ9NZM1

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MYOF human
EvolutionaryTraceiQ9NZM1

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
FER1L3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
26509
PharosiQ9NZM1

Protein Ontology

More...
PROi
PR:Q9NZM1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138119 Expressed in 227 organ(s), highest expression level in nasal cavity epithelium
ExpressionAtlasiQ9NZM1 baseline and differential
GenevisibleiQ9NZM1 HS

Family and domain databases

CDDicd08373 C2A_Ferlin, 1 hit
cd04011 C2B_Ferlin, 1 hit
cd04018 C2C_Ferlin, 1 hit
cd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
cd08374 C2F_Ferlin, 1 hit
Gene3Di2.60.40.150, 6 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037726 C2A_Ferlin
IPR037720 C2B_Ferlin
IPR037722 C2C_Ferlin
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037725 C2F_Ferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012560 Ferlin_A-domain
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR029999 Myoferlin
IPR006614 Peroxin/Ferlin
PANTHERiPTHR12546 PTHR12546, 1 hit
PTHR12546:SF55 PTHR12546:SF55, 1 hit
PfamiView protein in Pfam
PF00168 C2, 7 hits
PF08165 FerA, 1 hit
PF08150 FerB, 1 hit
PF08151 FerI, 1 hit
PF16165 Ferlin_C, 1 hit
SMARTiView protein in SMART
SM00239 C2, 7 hits
SM00694 DysFC, 2 hits
SM00693 DysFN, 2 hits
SM01200 FerA, 1 hit
SM01201 FerB, 1 hit
SM01202 FerI, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMYOF_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZM1
Secondary accession number(s): B3KQN5
, Q5VWW2, Q5VWW3, Q5VWW4, Q5VWW5, Q7Z642, Q8IWH0, Q9HBU3, Q9NZM0, Q9ULL3, Q9Y4U4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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