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Entry version 161 (16 Oct 2019)
Sequence version 3 (16 Dec 2008)
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Protein

Dysferlin

Gene

Dysf

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

Key calcium ion sensor involved in the Ca2+-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress.3 Publications

Miscellaneous

Mice lacking Dysf maintain a functional dystrophin glycoprotein complex (DGC) but their muscle cells are defective in repairing the plasma membrane disruptions and accumulates vesicles at the sarcolemma. They develop a progressive muscular dystrophy and cardiomyopathy.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi18CalciumBy similarity1
Metal bindingi19Calcium; via carbonyl oxygenBy similarity1
Metal bindingi21CalciumBy similarity1
Metal bindingi40CalciumBy similarity1

<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

<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>Keywordsi

LigandCalcium, Lipid-binding, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-MMU-445355 Smooth Muscle Contraction

<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:
Dysferlin
Alternative name(s):
Dystrophy-associated fer-1-like protein
Fer-1-like protein 1
<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:Dysf
Synonyms:Fer1l1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<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 6

Organism-specific databases

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

More...
MGIi
MGI:1349385 Dysf

<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 – 2056CytoplasmicSequence analysisAdd BLAST2056
<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>Transmembranei2057 – 2077HelicalSequence analysisAdd BLAST21
Topological domaini2078 – 2090ExtracellularSequence analysisAdd BLAST13

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Defects in Dysf are the cause of a slowly progressive muscular dystrophy observed in SJL mice. It affects primarily the proximal muscles and it is inherited as autosomal recessive trait.2 Publications

<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_00000578801 – 2090DysferlinAdd BLAST2090

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 residuei166PhosphothreonineBy similarity1
Isoform 2 (identifier: Q9ESD7-2)
Modified residuei164PhosphoserineCombined sources1
Modified residuei167PhosphoserineCombined sources1
Modified residuei209PhosphoserineCombined sources1
Modified residuei219PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9ESD7

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

More...
PaxDbi
Q9ESD7

PeptideAtlas

More...
PeptideAtlasi
Q9ESD7

PRoteomics IDEntifications database

More...
PRIDEi
Q9ESD7

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9ESD7

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

More...
PhosphoSitePlusi
Q9ESD7

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9ESD7

<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 skeletal and cardiac muscles (at protein level). Expressed in skeletal muscle and heart. Also found in brain, liver and kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSMUSG00000033788 Expressed in 150 organ(s), highest expression level in heart left ventricle

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9ESD7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9ESD7 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 CAV3.

Interacts with AHNAK; the interaction is direct and Ca2+-independent.

Interacts with AHNAK2; the interaction is direct and Ca2+-independent (By similarity).

Interacts with ANXA1; the interaction is Ca2+- and injury state-dependent.

Interacts with ANXA2; the interaction is Ca2+- and injury state-dependent.

Interacts with CACNA1S and PARVB.

Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation.

Interacts with RIPOR2; this interaction occurs during early myogenic differentiation (By similarity).

By similarity4 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
205052, 3 interactors

Protein interaction database and analysis system

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IntActi
Q9ESD7, 4 interactors

Molecular INTeraction database

More...
MINTi
Q9ESD7

STRING: functional protein association networks

More...
STRINGi
10090.ENSMUSP00000080579

<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

3D structure databases

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

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SMRi
Q9ESD7

Database of comparative protein structure models

More...
ModBasei
Search...

<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
Domaini209 – 304C2 2PROSITE-ProRule annotationAdd BLAST96
Domaini368 – 486C2 3PROSITE-ProRule annotationAdd BLAST119
Domaini1149 – 1254C2 4PROSITE-ProRule annotationAdd BLAST106
Domaini1346 – 1433C2 5PROSITE-ProRule annotationAdd BLAST88
Domaini1575 – 1673C2 6PROSITE-ProRule annotationAdd BLAST99
Domaini1823 – 1936C2 7PROSITE-ProRule annotationAdd BLAST114

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 biasi1048 – 1107Arg-richAdd BLAST60

<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

All seven C2 domains associate with lipid membranes in a calcium-dependent manner. Domains C2 1 and 3 have the highest affinity for calcium, the C2 domain 1 seems to be largely unstructured in the absence of bound ligands (By similarity).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

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eggNOGi
KOG1326 Eukaryota
ENOG410XPT2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156187

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000006771

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9ESD7

KEGG Orthology (KO)

More...
KOi
K18261

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

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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
IPR029998 Dysferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012560 Ferlin_A-domain
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR006614 Peroxin/Ferlin

The PANTHER Classification System

More...
PANTHERi
PTHR12546 PTHR12546, 1 hit
PTHR12546:SF44 PTHR12546:SF44, 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 (3+)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 3 <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 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9ESD7-1) [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
MLRVFILFAE NVHTPDSDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF
60 70 80 90 100
EWDLKGIPLD QSSELLVVVK DHETMGRNRF LGEAKIPLQE VLATPSLSAS
110 120 130 140 150
FNAPLLDAKQ QPTGASLVLQ VSYTPPPGAV PLFPPPASLA PSPTLPDMDL
160 170 180 190 200
VPDTGGEEDT EDQGLTGDEA EPFLDQSAAV GPGGPTTPRK PPSHPPPHYP
210 220 230 240 250
GAKRKRSSAP PRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK PVVKVTAAGQ
260 270 280 290 300
TKRTRIQKGN SPLFNETLFF NVFDSPLELF DEPIFITVVD SRSLRTDALL
310 320 330 340 350
GEFRMDVGTV YREPRHAYLR KWLLLSDPDD FSAGARGYLK ASLCVLGPGD
360 370 380 390 400
EAPLDKKDPS EDKEDIEGNL LRPTGVALRG AHFCLKLFRA EDLPQMDDAV
410 420 430 440 450
MDNVKQIFGF DSNKKNLVDP FVEVSFAGKM LCSKILEKTA NPQWNQNITL
460 470 480 490 500
PAMFPSMCEK MRIRVMDWDR LTHNDTVATT YLGMSKISAT GGEIEEEPAG
510 520 530 540 550
VLKSPQATDL DDNLGFLPTF GPCYVNLYGS PREFTGFPDP YAELNTGKGE
560 570 580 590 600
GVAYRGRVLL SLETKLVEHS EQKVEDLPAD DILRVEKYLR RRKYSLFAAF
610 620 630 640 650
YSATMLQDVD DAIQFEVSIG NYGNKFDTTC LPLASTTQYS RAVFDGGSLP
660 670 680 690 700
LPVGCHYYYL PWGNVKPVVV LSSYWEDISH RIEIQNQLLR VADRLEANLE
710 720 730 740 750
QVHLALKAQC SSEDVDALVA QLTDELLADC SQPLCDIHEI PSATHLDQYL
760 770 780 790 800
LRLRTRHLSQ IKEAALALKL GHSELSTALE QAEDWLLHLR ALAEEPQNSL
810 820 830 840 850
PDIIIWMLQG DKRVAYQRVP AHEVLFSRRG PSYCGRNCGK LQTIFLKYPM
860 870 880 890 900
EGMPGARMPV QIRIKLWFGL SVDEKEFNQF AEGKLSVFAE TYENQTKLAL
910 920 930 940 950
VGNWGTTGLT YPKFSDVTGK IKLPKDSFRP SAGWAWAGDW FVCPEKTLLH
960 970 980 990 1000
DADAGHLSFV EEVFENQTRL PGGQWIYMSD NYTDVNGEKV LPKDDIECPL
1010 1020 1030 1040 1050
GWKWEDEEWS TDLNRAVDEQ GWEYSITIPP DRKPKHWVPV EKMYYTHRRR
1060 1070 1080 1090 1100
RWVRLRRRDL SQMEALKRHR QAEAEGEGWE YASLFGWKFH LEYRKTDAFR
1110 1120 1130 1140 1150
RRRWRRRMEP LEKTGPAAVF ALEGALGGMV DDKSEDSMSV STLSFGVNRP
1160 1170 1180 1190 1200
TISCIFDYGN RYHLRCYLYQ ARDLPAMDKD SFSDPYAIVS FLHQSQKTVV
1210 1220 1230 1240 1250
EKNTLNPTWD QTLIFYEIEI FGEPASIAEH PPCIVVELYD HDTYGADEFM
1260 1270 1280 1290 1300
GRCICQPSLE RMPRLAWFPL TRGSQPAGEL LAAFELIQRE KPAIHHIPGF
1310 1320 1330 1340 1350
EMHETSRILD ETEDTDLPYP PPQREANIYM VPQNIKPALQ RTAIEILAWG
1360 1370 1380 1390 1400
LRNMKSYQMA SISSPSLVVE CGGQTVQSCV IRNLRKNPNF DVCTLFMEVM
1410 1420 1430 1440 1450
LPREDLYCPP IVVKVIDNRQ FGRRPVVGQC TIRSLENFLC DPYSAESPSP
1460 1470 1480 1490 1500
QGGPDDVSLL SPGEDVLIDI DDKEPLIPVQ EEEFIDWWSK FFASVGEREK
1510 1520 1530 1540 1550
CGSYLEKDFD TLKVYDTQLE NVEAFGGLSD FCNTFKLYRG RTQEETDDPS
1560 1570 1580 1590 1600
VIGEFKGLFK IYPLPEDPAI PMPPRQFHQL AAQGPQECLV RIYIVRAFGL
1610 1620 1630 1640 1650
QPKDPNGKCD PYIKISIGKK SVSDQDNYIP CTLEPVFGKM FELTCTLPLE
1660 1670 1680 1690 1700
KDLKITLYDY DLLSKDEKIG ETVIDLENRL LSKFGARCGL PQTYCVSGPN
1710 1720 1730 1740 1750
QWRDQLRPSQ LLHLFCQQHR IKAPVYRTDR VTFQDKDYTI EEIEAGRLPN
1760 1770 1780 1790 1800
PHLGPVEERL ALHVLQQQGL VPEHVESRPL YSPLQPDIEQ GKLQMWIDIF
1810 1820 1830 1840 1850
PKVLGRPGPP FNITPRKARR FFLRCIIWNT KDVILDDLSL TGEKMSDIYV
1860 1870 1880 1890 1900
KGWMVGFEEH KQKTDVHYRS LGGEGNFNWR FVFPFDYLPA EQVCAVAKKD
1910 1920 1930 1940 1950
AFWRLDKTES KIPARVVFQI WDNDKFSFDD FLGSLQLDLN RMPKPAKTAE
1960 1970 1980 1990 2000
KCSLDQLDDT FHPEWFVSLF EQKTVKGWWP CVTEEGEKKM LAGKLEMTLE
2010 2020 2030 2040 2050
IVAESEHEER PAGQGRDEPN MNPKLEDPRR PDTSFLWFTS PYKTMKFILW
2060 2070 2080 2090
RRFRCAIILF IILFILLLFL GVFVYAFPNY AAMKLVKPFR
Length:2,090
Mass (Da):237,911
Last modified:December 16, 2008 - v3
<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:i0EBD1E2353946143
GO
Isoform 2 (identifier: Q9ESD7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MLRVFILFAENVHTPDSDISDAYCSAVFA → MLCCLLARASNLPNVKKDRRSDPVASLIFR
     152-152: P → PGGGQSRAETWSLLSDSTMDTRYSGKKWPVPT
     496-510: EEPAGVLKSPQATDL → V
     647-654: Missing.

Show »
Length:2,100
Mass (Da):239,289
Checksum:i3C8A7837C2F78273
GO
Isoform 3 (identifier: Q9ESD7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MLRVFILFAENVHTPDSDISDAYCSAVFA → MLCCLLARASNLPNVKKDRRSDPVASLIFR
     496-510: EEPAGVLKSPQATDL → V
     647-654: Missing.

Show »
Length:2,069
Mass (Da):235,908
Checksum:iBA9E838D870C6396
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PXU9E9PXU9_MOUSE
Dysferlin
Dysf
2,083Annotation 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>
E9QL12E9QL12_MOUSE
Dysferlin
Dysf
2,082Annotation 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>
A0A0N4SUJ2A0A0N4SUJ2_MOUSE
Dysferlin
Dysf
2,090Annotation 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>
A0A0N4SUN3A0A0N4SUN3_MOUSE
Dysferlin
Dysf
2,104Annotation 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>
A0A0N4SWH3A0A0N4SWH3_MOUSE
Dysferlin
Dysf
2,103Annotation 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>
E9Q423E9Q423_MOUSE
Dysferlin
Dysf
2,099Annotation 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>
A0A0N4SV63A0A0N4SV63_MOUSE
Dysferlin
Dysf
2,120Annotation 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>
A0A0N4SVX9A0A0N4SVX9_MOUSE
Dysferlin
Dysf
2,114Annotation 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>
A0A0N4SWG7A0A0N4SWG7_MOUSE
Dysferlin
Dysf
2,103Annotation 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 BAD21394 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAB63111 differs from that shown. The sequence differs significantly from amino acid position 1855.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 conflicti467D → G in CAB63111 (PubMed:10508505).Curated1
Sequence conflicti476T → I in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti510L → V in CAB63111 (PubMed:10508505).Curated1
Sequence conflicti684I → T in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti690 – 691RV → GI in AAG17046 (PubMed:11234777).Curated2
Sequence conflicti698N → G in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti712S → T in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti717A → S in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti727L → I in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti885L → F in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti909 – 910LT → FS in AAG17046 (PubMed:11234777).Curated2
Sequence conflicti931S → T in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti953D → A in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti1175P → A in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti1187A → S in CAB63111 (PubMed:10508505).Curated1
Sequence conflicti1694Y → C in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti1701Q → K in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti1705Q → K in AAG17046 (PubMed:11234777).Curated1
Sequence conflicti1806R → Q in AAG17046 (PubMed:11234777).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_0359301 – 29MLRVF…SAVFA → MLCCLLARASNLPNVKKDRR SDPVASLIFR in isoform 2 and isoform 3. 2 PublicationsAdd BLAST29
Alternative sequenceiVSP_035931152P → PGGGQSRAETWSLLSDSTMD TRYSGKKWPVPT in isoform 2. 1 Publication1
Alternative sequenceiVSP_035932496 – 510EEPAG…QATDL → V in isoform 2 and isoform 3. 2 PublicationsAdd BLAST15
Alternative sequenceiVSP_035933647 – 654Missing in isoform 2 and isoform 3. 2 Publications8

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
AF188290 mRNA Translation: AAG17046.2
AK131144 mRNA Translation: BAD21394.1 Different initiation.
AC153607 Genomic DNA No translation available.
AC153608 Genomic DNA No translation available.
AJ242954 mRNA Translation: CAB63111.1 Sequence problems.
BC043692 mRNA Translation: AAH43692.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS39536.1 [Q9ESD7-2]
CCDS85081.1 [Q9ESD7-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001071162.1, NM_001077694.2
NP_001297081.1, NM_001310152.1 [Q9ESD7-3]
NP_067444.2, NM_021469.3 [Q9ESD7-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENSMUST00000081904; ENSMUSP00000080579; ENSMUSG00000033788 [Q9ESD7-2]
ENSMUST00000113818; ENSMUSP00000109449; ENSMUSG00000033788 [Q9ESD7-3]
ENSMUST00000168387; ENSMUSP00000132297; ENSMUSG00000033788 [Q9ESD7-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26903

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
mmu:26903

UCSC genome browser

More...
UCSCi
uc009cos.3 mouse [Q9ESD7-3]
uc009cot.2 mouse [Q9ESD7-2]

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
AF188290 mRNA Translation: AAG17046.2
AK131144 mRNA Translation: BAD21394.1 Different initiation.
AC153607 Genomic DNA No translation available.
AC153608 Genomic DNA No translation available.
AJ242954 mRNA Translation: CAB63111.1 Sequence problems.
BC043692 mRNA Translation: AAH43692.1
CCDSiCCDS39536.1 [Q9ESD7-2]
CCDS85081.1 [Q9ESD7-3]
RefSeqiNP_001071162.1, NM_001077694.2
NP_001297081.1, NM_001310152.1 [Q9ESD7-3]
NP_067444.2, NM_021469.3 [Q9ESD7-2]

3D structure databases

SMRiQ9ESD7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi205052, 3 interactors
IntActiQ9ESD7, 4 interactors
MINTiQ9ESD7
STRINGi10090.ENSMUSP00000080579

PTM databases

iPTMnetiQ9ESD7
PhosphoSitePlusiQ9ESD7
SwissPalmiQ9ESD7

Proteomic databases

jPOSTiQ9ESD7
PaxDbiQ9ESD7
PeptideAtlasiQ9ESD7
PRIDEiQ9ESD7

Genome annotation databases

EnsembliENSMUST00000081904; ENSMUSP00000080579; ENSMUSG00000033788 [Q9ESD7-2]
ENSMUST00000113818; ENSMUSP00000109449; ENSMUSG00000033788 [Q9ESD7-3]
ENSMUST00000168387; ENSMUSP00000132297; ENSMUSG00000033788 [Q9ESD7-1]
GeneIDi26903
KEGGimmu:26903
UCSCiuc009cos.3 mouse [Q9ESD7-3]
uc009cot.2 mouse [Q9ESD7-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8291
MGIiMGI:1349385 Dysf

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00940000156187
HOGENOMiHOG000006771
InParanoidiQ9ESD7
KOiK18261
TreeFamiTF316871

Enzyme and pathway databases

ReactomeiR-MMU-445355 Smooth Muscle Contraction

Miscellaneous databases

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

More...
ChiTaRSi
Dysf mouse

Protein Ontology

More...
PROi
PR:Q9ESD7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSMUSG00000033788 Expressed in 150 organ(s), highest expression level in heart left ventricle
ExpressionAtlasiQ9ESD7 baseline and differential
GenevisibleiQ9ESD7 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
IPR029998 Dysferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012560 Ferlin_A-domain
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR006614 Peroxin/Ferlin
PANTHERiPTHR12546 PTHR12546, 1 hit
PTHR12546:SF44 PTHR12546:SF44, 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 nameiDYSF_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: Q9ESD7
Secondary accession number(s): Q6KAR3, Q80VT0, Q9QXC0
<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: December 16, 2008
Last modified: October 16, 2019
This is version 161 of the entry and version 3 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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