ENSMUSG00000033788


Mus musculus

Features
Gene ID: ENSMUSG00000033788
  
Biological name :Dysf
  
Synonyms : Dysf / Dysferlin / Q9ESD7
  
Possible biological names infered from orthology : O75923
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: C3
Gene start: 84008590
Gene end: 84211060
  
Corresponding Affymetrix probe sets: 10539517 (MoGene1.0st)   1451891_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000109452
Ensembl peptide - ENSMUSP00000109449
Ensembl peptide - ENSMUSP00000109454
Ensembl peptide - ENSMUSP00000145518
Ensembl peptide - ENSMUSP00000145511
Ensembl peptide - ENSMUSP00000145292
Ensembl peptide - ENSMUSP00000144970
Ensembl peptide - ENSMUSP00000144748
Ensembl peptide - ENSMUSP00000144705
Ensembl peptide - ENSMUSP00000132297
Ensembl peptide - ENSMUSP00000080579
Ensembl peptide - ENSMUSP00000087022
NCBI entrez gene - 26903     See in Manteia.
MGI - MGI:1349385
RefSeq - XM_006506184
RefSeq - XM_006506170
RefSeq - XM_006506171
RefSeq - XM_006506172
RefSeq - XM_006506173
RefSeq - XM_006506174
RefSeq - XM_006506175
RefSeq - XM_006506176
RefSeq - XM_006506177
RefSeq - XM_006506178
RefSeq - XM_006506179
RefSeq - XM_006506181
RefSeq - XM_006506182
RefSeq - XM_006506183
RefSeq - NM_001077694
RefSeq - NM_001310152
RefSeq - NM_021469
RefSeq - XM_006506163
RefSeq - XM_006506164
RefSeq - XM_006506165
RefSeq - XM_006506166
RefSeq - XM_006506167
RefSeq - XM_006506168
RefSeq - XM_006506169
RefSeq Peptide - NP_067444
RefSeq Peptide - NP_001071162
RefSeq Peptide - NP_001297081
swissprot - A0A0N4SWH3
swissprot - A0A0N4SWG7
swissprot - A0A0N4SVX9
swissprot - E9QL12
swissprot - A0A0N4SUN3
swissprot - Q9ESD7
swissprot - A0A0N4SUJ2
swissprot - A0A0N4SV63
swissprot - E9Q423
swissprot - E9PXU9
Ensembl - ENSMUSG00000033788
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dysfENSDARG00000007370Danio rerio
 DYSFENSGALG00000016105Gallus gallus
 DYSFENSG00000135636Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Myof / Q69ZN7 / Myoferlin / Q9NZM1*ENSMUSG0000004861255
Fer1l5 / P0DM40 / Fer-1-like protein 5 / A0AVI2* / fer-1 like family member 5*ENSMUSG0000003743239
Otof / otoferlin isoform 3 / Q9HC10* / otoferlin*ENSMUSG0000006237232
Fer1l6 / fer-1 like family member 6 / Q2WGJ9*ENSMUSG0000003710630
Fer1l4ENSMUSG0000001333829


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR006614  Peroxin/Ferlin domain
 IPR012560  Ferlin A-domain
 IPR012561  Ferlin B-domain
 IPR012968  FerIin domain
 IPR029998  Dysferlin
 IPR032362  Ferlin, C-terminal domain
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001778 plasma membrane repair IMP
 biological_processGO:0006906 vesicle fusion IMP
 cellular_componentGO:0005768 endosome ISO
 cellular_componentGO:0005769 early endosome ISO
 cellular_componentGO:0005770 late endosome ISO
 cellular_componentGO:0005815 microtubule organizing center ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030027 lamellipodium IDA
 cellular_componentGO:0030139 endocytic vesicle ISO
 cellular_componentGO:0030315 T-tubule ISO
 cellular_componentGO:0030659 cytoplasmic vesicle membrane TAS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042383 sarcolemma IEA
 molecular_functionGO:0005509 calcium ion binding ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding ISS
 molecular_functionGO:0005544 calcium-dependent phospholipid binding ISO
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Smooth Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Frem1bat/Frem1+
Genetic Background: C57BL/6J-Frem1bat

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
Show

Allelic Composition: Dsg3tm1Stan/Dsg3tm1Stan
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000750 abnormal muscle regeneration "inability or defects in ability to repair muscle after injuries" [J:42574]
Show

Allelic Composition: Bmp4tm3Blh/Bmp4tm3Blh,Foxg1tm1(cre)Skm/Foxg1+
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
Show

Allelic Composition: Dsg3tm1Stan/Dsg3tm1Stan
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dysfprmd/Dysfprmd,Hprttm2(CAG-Myof)Isrd/Y
Genetic Background: involves: 129 * A/J * C57BL/6

Allelic Composition: Dysfprmd/Dysfprmd,Hprttm2(CAG-Myof)Isrd/Hprttm2(CAG-Myof)Isrd
Genetic Background: involves: 129 * A/J * C57BL/6

Allelic Composition: Dysfim/Dysfim,Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysfim,Fktntm2(FCMD)Ttd/Fktn+
Genetic Background: involves: C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysf+,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysfim,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: KitW-n/KitW-n
Genetic Background: Not Specified

Allelic Composition: Dysfprmd/Dysfprmd
Genetic Background: A/J

Allelic Composition: Dysfim/Dysfim,Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: KitW-n/KitW-n
Genetic Background: Not Specified

Allelic Composition: Dysfprmd/Dysfprmd
Genetic Background: A/J

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: KitW-n/KitW-n
Genetic Background: Not Specified

Allelic Composition: Dysfprmd/Dysfprmd
Genetic Background: A/J

Allelic Composition: Dysfim/Dysfim,Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysfim,Fktntm2(FCMD)Ttd/Fktn+
Genetic Background: involves: C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysf+,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysfim,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0003852 skeletal muscle necrosis "pathological cell death in the skeletal muscle, usually due to irreversible damage" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004121 abnormal sarcolemma morphology "structural anomaly in the plasma membrane of a muscle fiber that is cabable of conducting electrical impuses" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004262 abnormal physical strength "altered ability of an organism to exert force on physical objects or of the body to support its load" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: KitW-n/KitW-n
Genetic Background: Not Specified

Allelic Composition: Dysfprmd/Dysfprmd
Genetic Background: A/J

 MP:0004510 myositis "inflammation of skeletal muscle; local accumulation of fluid, plasma proteins, and leukocytes in the striated muscle" [MESH:C05.651.594]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dysfim/Dysfim,Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysf+,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysfim,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0009399 increased skeletal muscle fiber size "increase in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: KitW-n/KitW-n
Genetic Background: Not Specified

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dysfim/Dysf+,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysfim,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dysftm1Meho/Dysftm1Meho
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Dysfprmd/Dysfprmd
Genetic Background: A/J

Allelic Composition: Dysfim/Dysfim,Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysfim,Fktntm2(FCMD)Ttd/Fktn+
Genetic Background: involves: C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysf+,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0009412 skeletal muscle fiber degeneration "pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dysfprmd/Dysfprmd
Genetic Background: A/J

Allelic Composition: Dysfim/Dysfim,Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysf+,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0009414 skeletal muscle fiber necrosis "pathological cell death in the skeletal muscle fibers, usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dysftm1Meho/Dysftm1Meho
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Dysfprmd/Dysfprmd
Genetic Background: A/J

Allelic Composition: Dysfim/Dysfim,Fktntm2(FCMD)Ttd/Fktn+
Genetic Background: involves: C57BL/6 * SJL/J

Allelic Composition: Dysfim/Dysf+,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0009419 skeletal muscle fibrosis "formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Dysfim/Dysfim,Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL/J

 MP:0009420 skeletal muscle endomysial fibrosis "replacement of the layer of connective tissue that ensheaths a muscle fiber by fibrous tissue resulting in separation of individual fibers" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dysftm1Meho/Dysftm1Meho
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Dysfprmd/Dysfprmd
Genetic Background: A/J

 MP:0010090 increased circulating creatine kinase level "an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dysftm1Kcam/Dysftm1Kcam
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000032231 Anxa2 / P07356 / Annexin A2 / P07355*  / complex / reaction
 ENSMUSG00000062694 Cav3 / P51637 / Caveolin-3 / P56539*  / reaction / complex
 ENSMUSG00000042828 Q1XH17 / Trim72 / Tripartite motif-containing protein 72 / Q6ZMU5* / tripartite motif containing 72*  / complex / reaction
 ENSMUSG00000024659 Anxa1 / P10107 / Annexin A1 / P04083*  / complex / reaction
 ENSMUSG00000018340 Anxa6 / P14824 / Annexin A6 / P08133*  / complex / reaction






 

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