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UniProtKB - Q69ZN7 (MYOF_MOUSE)

Entry version 123 (16 Oct 2019)
Sequence version 2 (20 Mar 2007)
Previous versions | rss
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Protein

Myoferlin

Gene

Myof

Organism
Mus musculus (Mouse)
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.3 Publications

Miscellaneous

Mice lacking Myof display fewer large multinucleated myotubes and are impaired in their ability to regenerate skeletal muscle after injury. They display a defective membrane repair in endothelial cells. They show also a delayed endocytic recycling.

<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+Note: Binds Ca2+. The ions are bound to the C2 1 domain.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>OrganismiMus musculus (Mouse)
<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 identifieri10090 [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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus
<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
  • UP000000589 <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 19

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...MGIi		MGI:1919192 Myof

<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 – 2012CytoplasmicSequence analysisAdd BLAST2012
<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>Transmembranei2013 – 2033HelicalSequence analysisAdd BLAST21
Topological domaini2034 – 2048ExtracellularSequence 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>Mutagenesisi67I → D: Reduces calcium-sensitive phospholipid binding. 1 Publication1

<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_00002816461 – 2048MyoferlinAdd BLAST2048

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 residuei170PhosphoserineCombined sources1
Modified residuei174PhosphoserineCombined sources1
Modified residuei540N6-acetyllysineCombined sources1
Modified residuei871N6-acetyllysineBy similarity1
Modified residuei1494N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q69ZN7

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

More...PaxDbi		Q69ZN7

PeptideAtlas

More...PeptideAtlasi		Q69ZN7

PRoteomics IDEntifications database

More...PRIDEi		Q69ZN7

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q69ZN7

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

More...PhosphoSitePlusi		Q69ZN7

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q69ZN7

<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 myoblasts (at protein level). Expressed in endothelial cells.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated during myotube formation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSMUSG00000048612 Expressed in 171 organ(s), highest expression level in urinary bladder urothelium

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q69ZN7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q69ZN7 MM

<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 EHD1 (PubMed:21177873).

Interacts with EHD2; the interaction is direct (PubMed:21177873).

Interacts with DNM2 and KDR (PubMed:21177873).

Interacts with RIPOR2 (By similarity).

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		230471, 2 interactors

Protein interaction database and analysis system

More...IntActi		Q69ZN7, 4 interactors

Molecular INTeraction database

More...MINTi		Q69ZN7

STRING: functional protein association networks

More...STRINGi		10090.ENSMUSP00000045036

<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
Domaini1113 – 1218C2 4PROSITE-ProRule annotationAdd BLAST106
Domaini1525 – 1625C2 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 EHD2By similarityAdd 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 biasi145 – 149Poly-Glu5
Compositional biasi615 – 618Poly-Tyr4
Compositional biasi1006 – 1009Poly-Arg4
Compositional biasi1059 – 1065Poly-Arg7
Compositional biasi2018 – 2026Poly-Leu9

<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 1 domain associates with lipid membranes in a calcium-dependent manner.By similarity

<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

More...InParanoidi		Q69ZN7

KEGG Orthology (KO)

More...KOi		K22125

Identification of Orthologs from Complete Genome Data

More...OMAi		RGWWPCS

Database of Orthologous Groups

More...OrthoDBi		20162at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q69ZN7

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

More...Gene3Di		2.60.40.150, 6 hits

Integrated resource of protein families, domains and functional sites

More...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 (4+)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 4 <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 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q69ZN7-1) [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
MLRVIVESAT NIPKTKFGKP DPIVSVIFKD EKKKTKKVDN ELNPVWNEIL 
        60         70         80         90        100
EFDLRGIPLD SSSSLVIVVK DFETIGQNKL IGTATVSLKD LIGDQNRSLP 
       110        120        130        140        150
YKQTSLLNEK GQDTGATIDL VIGYTPPSAP HPNDPSGTSV PGMGEEEEED 
       160        170        180        190        200
QGDEDRVDGI VRGPGPKGPS GTVSEAQLAR RITKGKSSRR MLSNKPQDFQ 
       210        220        230        240        250
IRVRVIEGRQ LCGNNIRPVV KVHICGQTHR TRIKRGNNPF FDELFFYNVH 
       260        270        280        290        300
ITPSELMDEI ISIRVYNSHS LRADCLMGEF KIDVGFVYDE PGHAVMRKWL 
       310        320        330        340        350
LLNDPEDTSS GAKGYMKVSM FVLGTGDEPP PEKRDRDNDS DDVESNLLLP 
       360        370        380        390        400
AGIALRWVTF MLKIYRAEDI PQMDDAFSQT VKEIFGGNAD KKNLVDPFVE 
       410        420        430        440        450
VSFAGKKVCT NIIERNANPE WNQVVNLQIK FPSMCEKIKL TVYDWDRLTK 
       460        470        480        490        500
NDVVGTTYLY LSKIAASGGE VEATTGETEV GFVPTFGPCY LNLYGSPREY 
       510        520        530        540        550
TGFPDPYDEL NSGKGEGVAY RGRIFVELNT FLEKKPPEKK LEPISSDDLL 
       560        570        580        590        600
VVEKYQRRRK YSLSAVFHSA TMLQDVGEAI QFEVSIGNYG NKFDATCKPL 
       610        620        630        640        650
ASTTQYSRAV FDGNYYYYLP WAHTKPVVTL TSYWEDISHR LDAVNTLLVM 
       660        670        680        690        700
AERLQSNIEA VKSGIQGKIP ANQLAEVWLK LIDEVIEDTR YTLPVTEGKA 
       710        720        730        740        750
NVTVLDTQIR KLRSRFLSQI HEAALRMRSE ATDVKSTLLE IEEWLDKLMQ 
       760        770        780        790        800
LTEEPQNSMP DIIIWMIRGE KRLAYARIPA HQVLYSTSGG NASGKYCGKT 
       810        820        830        840        850
QTILLKYPQE KTNGPKVPVE LRVNIWLGLS AVEKKFNSFA EGTFTVFAEM 
       860        870        880        890        900
YENQALVFGK WGTSGLVGRH KFSDVTGKIK LKREFFLPPK GWEWEGDWVV 
       910        920        930        940        950
DPERSLLTEA DAGHTEFTDE VYQNENRYPG GEWKQAEDTY TDANGDKAAS 
       960        970        980        990       1000
PSEMTCPPGW EWEDDAWIYD INRAVDEKGW EYGITIPPDN KPKSWVAAEK 
      1010       1020       1030       1040       1050
MYHTHRRRRL VRKRKKDLTQ TASSTARAME ELEDREGWEY ASLIGWKFHW 
      1060       1070       1080       1090       1100
KQRSSDTFRR RRWRRKMAPS ETHGAAAIFK LEGALGADTT EDGEEKGPEK 
      1110       1120       1130       1140       1150
QKHSATTVFG ANTPIVSCNF DRVYIYHLRC YIYQARNLMA LDKDSFSDPY 
      1160       1170       1180       1190       1200
AHVSFLHRSK TTEIIHSTLN PTWDQTIIFD EVEIFGEPQT VLQNPPNVTI 
      1210       1220       1230       1240       1250
ELFDNDQVGK DEFLGRSICS PLVKLNSETD ITPKLLWHPV MNGDKACGDV 
      1260       1270       1280       1290       1300
LVTAELILRN KDGSNLPILP SQRAPNLYMV PQGIRPVVQL TAIEILAWGL 
      1310       1320       1330       1340       1350
RNMKNYQMAS VTSPSLVVEC GGERVESVVI KSLKKTPNFP SSVLFMKVFL 
      1360       1370       1380       1390       1400
PKEELYMPPL VIKVIDHRQF GRKPVVGQCT IDHLDRFRCD PYAGKEDIVP 
      1410       1420       1430       1440       1450
QLKASLMSAP PCREVVIEIE DTKPLLASKL SEKEEEIVDW WSKFYASSGE 
      1460       1470       1480       1490       1500
HEKCGQYIQK GYSKLKIYDC ELEDVADFEG LTDFSDTFKL YRGKSDENED 
      1510       1520       1530       1540       1550
PSVVGEFKGS FRIYPLPDDP SVPAPPRQFR ELPDSVPQEC TVRIYIVQGL 
      1560       1570       1580       1590       1600
QLQPQDNNGL CDPYIKITLG KKVIEDRDHY IPNTLNPVFG RMYELSCYLP 
      1610       1620       1630       1640       1650
QEKDLKISVY DYDTFTRDEK VGETTIDLEN RFLSRFGSHC GIPEQYCVSG 
      1660       1670       1680       1690       1700
VNTWRDQLRP TQLLQNVARF KGFPPPVLSE DGSRIRYGGR DYHLDEFEAN 
      1710       1720       1730       1740       1750
KILHQHLGAP EERLALHILR TQGLVPEHVE TRTLHSTFQP NISQGKLQMW 
      1760       1770       1780       1790       1800
VDVFPKSLGP PGPPFNITPR KAKKYYLRVI IWNTKDVILD EKSITGEDMS 
      1810       1820       1830       1840       1850
DIYVKGWISG SEENKQKTDV HYRSLDGEGN FNWRFVFPFD YLPAEQLCIV 
      1860       1870       1880       1890       1900
AKKEHFWSID QTEFRVPPRL IIQIWDNDKF SLDDYLGFLE LDLHRTIIPA 
      1910       1920       1930       1940       1950
KTSEKCSLDM IPDLKAMDPL KAKTASLFEQ RSMKGWWPCY ADKDGTRVMA 
      1960       1970       1980       1990       2000
GKVEMTLEVL NEREADERPA GKGRSEPNMN PKLDPPNRPE TSFLWFTNPC 
      2010       2020       2030       2040 
KTMRFIVWRR FKWVIIGLLL LLILLLFVAV LLYSLPNYLS MKIVRPNA
Length:2,048
Mass (Da):233,324
Last modified:March 20, 2007 - v2
<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:i00D1596472CDFB8E
GO
Isoform 2 (identifier: Q69ZN7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     472-472: E → EDFSSSGAGAASYT
     906-908: LLT → SPR
     909-2048: Missing.

Show »
Length:921
Mass (Da):103,418
Checksum:i76A64E2BC25F2B93
GO
Isoform 3 (identifier: Q69ZN7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     282-292: IDVGFVYDEPG → VSDSSILLSMI
     293-2048: Missing.

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Length:292
Mass (Da):32,410
Checksum:iA854517A1C76D948
GO
Isoform 4 (identifier: Q69ZN7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1346-1570: Missing.

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Length:1,823
Mass (Da):207,604
Checksum:i0D5CFD8AFE594A61
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 are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9Q390E9Q390_MOUSE
Myoferlin
Myof
2,048Annotation 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>
A0A286YDF5A0A286YDF5_MOUSE
Myoferlin
Myof
2,061Annotation 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>
A0A286YCZ3A0A286YCZ3_MOUSE
Myoferlin
Myof
1,307Annotation 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>
A0A286YDV5A0A286YDV5_MOUSE
Myoferlin
Myof
186Annotation 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>
A0A286YE65A0A286YE65_MOUSE
Myoferlin
Myof
85Annotation 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 AAH25649 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAD32409 differs from that shown. Reason: Frameshift.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 conflicti186K → E in BAC39820 (PubMed:16141072).Curated1
Sequence conflicti1322G → R in BAC36043 (PubMed:16141072).Curated1

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_024013282 – 292IDVGFVYDEPG → VSDSSILLSMI in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_024014293 – 2048Missing in isoform 3. 1 PublicationAdd BLAST1756
Alternative sequenceiVSP_024015472E → EDFSSSGAGAASYT in isoform 2. 1 Publication1
Alternative sequenceiVSP_024016906 – 908LLT → SPR in isoform 2. 1 Publication3
Alternative sequenceiVSP_024017909 – 2048Missing in isoform 2. 1 PublicationAdd BLAST1140
Alternative sequenceiVSP_0359341346 – 1570Missing in isoform 4. 1 PublicationAdd BLAST225

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
AK173131 mRNA Translation: BAD32409.1 Sequence problems.
AK031666 mRNA Translation: BAC27500.1
AK075903 mRNA Translation: BAC36043.1
AK086107 mRNA Translation: BAC39611.1
AK087176 mRNA Translation: BAC39820.2
AK087302 mRNA Translation: BAC39840.1
AC115360 Genomic DNA No translation available.
BC025649 mRNA Translation: AAH25649.1 Different initiation.
BC044825 mRNA Translation: AAH44825.1
BC055953 mRNA Translation: AAH55953.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS37970.1 [Q69ZN7-1]

NCBI Reference Sequences

More...RefSeqi		NP_001093104.1, NM_001099634.1 [Q69ZN7-1]
NP_001289069.1, NM_001302140.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENSMUST00000041475; ENSMUSP00000045036; ENSMUSG00000048612 [Q69ZN7-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		226101

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		mmu:226101

UCSC genome browser

More...UCSCi		uc008hit.1 mouse [Q69ZN7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AK173131 mRNA Translation: BAD32409.1 Sequence problems.
AK031666 mRNA Translation: BAC27500.1
AK075903 mRNA Translation: BAC36043.1
AK086107 mRNA Translation: BAC39611.1
AK087176 mRNA Translation: BAC39820.2
AK087302 mRNA Translation: BAC39840.1
AC115360 Genomic DNA No translation available.
BC025649 mRNA Translation: AAH25649.1 Different initiation.
BC044825 mRNA Translation: AAH44825.1
BC055953 mRNA Translation: AAH55953.1
CCDSiCCDS37970.1 [Q69ZN7-1]
RefSeqiNP_001093104.1, NM_001099634.1 [Q69ZN7-1]
NP_001289069.1, NM_001302140.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi230471, 2 interactors
IntActiQ69ZN7, 4 interactors
MINTiQ69ZN7
STRINGi10090.ENSMUSP00000045036

PTM databases

iPTMnetiQ69ZN7
PhosphoSitePlusiQ69ZN7
SwissPalmiQ69ZN7

Proteomic databases

jPOSTiQ69ZN7
PaxDbiQ69ZN7
PeptideAtlasiQ69ZN7
PRIDEiQ69ZN7

Genome annotation databases

EnsembliENSMUST00000041475; ENSMUSP00000045036; ENSMUSG00000048612 [Q69ZN7-1]
GeneIDi226101
KEGGimmu:226101
UCSCiuc008hit.1 mouse [Q69ZN7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26509
MGIiMGI:1919192 Myof

Rodent Unidentified Gene-Encoded large proteins database

More...Rougei		Search...

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00940000154741
InParanoidiQ69ZN7
KOiK22125
OMAiRGWWPCS
OrthoDBi20162at2759
PhylomeDBiQ69ZN7
TreeFamiTF316871

Miscellaneous databases

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

More...ChiTaRSi		Myof mouse

Protein Ontology

More...PROi		PR:Q69ZN7

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSMUSG00000048612 Expressed in 171 organ(s), highest expression level in urinary bladder urothelium
ExpressionAtlasiQ69ZN7 baseline and differential
GenevisibleiQ69ZN7 MM

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_MOUSE
<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: Q69ZN7
Secondary accession number(s): Q7TMG0
, Q80V33, Q8BU64, Q8BU70, Q8BUC1, Q8BVY6, Q8C0D1, Q8R3B4
<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: March 20, 2007
Last sequence update: March 20, 2007
Last modified: October 16, 2019
This is version 123 of the entry and version 2 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

<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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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