ENSMUSG00000024044


Mus musculus

Features
Gene ID: ENSMUSG00000024044
  
Biological name :Epb41l3
  
Synonyms : Band 4.1-like protein 3 Band 4.1-like protein 3, N-terminally processed / Epb41l3 / Q9WV92
  
Possible biological names infered from orthology : erythrocyte membrane protein band 4.1 like 3 / Q9Y2J2
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: E1.3
Gene start: 69075683
Gene end: 69289989
  
Corresponding Affymetrix probe sets: 10446553 (MoGene1.0st)   1419062_at (Mouse Genome 430 2.0 Array)   1426010_a_at (Mouse Genome 430 2.0 Array)   1440595_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000153133
Ensembl peptide - ENSMUSP00000108300
Ensembl peptide - ENSMUSP00000153138
Ensembl peptide - ENSMUSP00000153611
Ensembl peptide - ENSMUSP00000153228
Ensembl peptide - ENSMUSP00000153198
Ensembl peptide - ENSMUSP00000153195
Ensembl peptide - ENSMUSP00000153190
Ensembl peptide - ENSMUSP00000153146
Ensembl peptide - ENSMUSP00000079098
NCBI entrez gene - 13823     See in Manteia.
MGI - MGI:103008
RefSeq - XM_017317240
RefSeq - XM_017317229
RefSeq - XM_017317230
RefSeq - XM_017317231
RefSeq - XM_017317232
RefSeq - XM_017317233
RefSeq - XM_017317234
RefSeq - XM_017317235
RefSeq - XM_017317236
RefSeq - XM_017317237
RefSeq - XM_017317238
RefSeq - XM_017317239
RefSeq - NM_013813
RefSeq - XM_006523603
RefSeq - XM_006523604
RefSeq - XM_006523606
RefSeq - XM_006523608
RefSeq - XM_006523610
RefSeq - XM_006523611
RefSeq - XM_006523612
RefSeq - XM_006523613
RefSeq - XM_006523614
RefSeq - XM_006523615
RefSeq - XM_006523616
RefSeq - XM_006523618
RefSeq - XM_011246274
RefSeq - XM_011246275
RefSeq - XM_011246276
RefSeq - XM_011246277
RefSeq - XM_011246278
RefSeq - XM_011246279
RefSeq - XM_011246281
RefSeq - XM_011246282
RefSeq - XM_011246283
RefSeq - XM_011246284
RefSeq - XM_011246285
RefSeq - XM_011246286
RefSeq - XM_011246288
RefSeq - XM_011246289
RefSeq - XM_011246290
RefSeq - XM_017317226
RefSeq - XM_017317227
RefSeq - XM_017317228
RefSeq Peptide - NP_038841
RefSeq Peptide - NP_001342665
swissprot - A0A286YDD0
swissprot - A0A286YD94
swissprot - A0A286YD84
swissprot - A0A286YCY8
swissprot - A0A286YCY1
swissprot - A0A286YCT6
swissprot - A7YY80
swissprot - Q9WV92
swissprot - A0A286YDY4
Ensembl - ENSMUSG00000024044
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 epb41l3aENSDARG00000002255Danio rerio
 epb41l3bENSDARG00000019917Danio rerio
 EPB41L3ENSGALG00000038678Gallus gallus
 Q9Y2J2ENSG00000082397Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Epb41l1 / band 4.1-like protein 1 isoform d / Q9H4G0* / erythrocyte membrane protein band 4.1 like 1*ENSMUSG0000002762448
O70318 / Epb41l2 / Mus musculus erythrocyte membrane protein band 4.1 like 2 (Epb41l2), transcript variant 3, mRNA. / O43491* / erythrocyte membrane protein band 4.1 like 2*ENSMUSG0000001997848
Epb41 / P48193 / erythrocyte membrane protein band 4.1 / P11171*ENSMUSG0000002890644
Ptpn4 / Q9WU22 / Tyrosine-protein phosphatase non-receptor type 4 / P29074* / protein tyrosine phosphatase, non-receptor type 4*ENSMUSG0000002638423
Q8BGS1 / Epb41l5 / Band 4.1-like protein 5 / Q9HCM4* / erythrocyte membrane protein band 4.1 like 5*ENSMUSG0000002638321
P52963 / Epb41l4a / Band 4.1-like protein 4A / Q9HCS5* / erythrocyte membrane protein band 4.1 like 4A*ENSMUSG0000002437621
Frmd3 / Q8BHD4 / FERM domain-containing protein 3 / A2A2Y4* / FERM domain containing 3*ENSMUSG0000004912218
Ptpn3 / A2ALK8 / protein tyrosine phosphatase, non-receptor type 3 / P26045*ENSMUSG0000003876418
Q9JMC8 / Epb41l4b / Band 4.1-like protein 4B / Q9H329* / erythrocyte membrane protein band 4.1 like 4B*ENSMUSG0000002843417
Frmd5 / Q6P5H6 / FERM domain-containing protein 5 / Q7Z6J6* / FERM domain containing 5*ENSMUSG0000002723816


Protein motifs (from Interpro)
Interpro ID Name
 IPR000299  FERM domain
 IPR000798  Ezrin/radixin/moesin-like
 IPR007477  SAB domain
 IPR008379  Band 4.1, C-terminal
 IPR011993  PH-like domain superfamily
 IPR014352  FERM/acyl-CoA-binding protein superfamily
 IPR014847  FERM adjacent (FA)
 IPR018979  FERM, N-terminal
 IPR018980  FERM, C-terminal PH-like domain
 IPR019747  FERM conserved site
 IPR019748  FERM central domain
 IPR019749  Band 4.1 domain
 IPR029071  Ubiquitin-like domain superfamily
 IPR030691  Band 4.1-like protein 3
 IPR035963  FERM superfamily, second domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001558 regulation of cell growth IEA
 biological_processGO:0002175 protein localization to paranode region of axon IMP
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007016 cytoskeletal anchoring at plasma membrane TAS
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0030865 cortical cytoskeleton organization TAS
 biological_processGO:0030866 cortical actin cytoskeleton organization IEA
 biological_processGO:0030913 paranodal junction assembly IMP
 biological_processGO:0031032 actomyosin structure organization IBA
 biological_processGO:0043217 myelin maintenance IMP
 biological_processGO:0048812 neuron projection morphogenesis IMP
 biological_processGO:0071205 protein localization to juxtaparanode region of axon IMP
 biological_processGO:0072659 protein localization to plasma membrane IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IBA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005911 cell-cell junction ISS
 cellular_componentGO:0014069 postsynaptic density IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030673 axolemma IDA
 cellular_componentGO:0033270 paranode region of axon IDA
 cellular_componentGO:0044224 juxtaparanode region of axon IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0008092 cytoskeletal protein binding IEA


Pathways (from Reactome)
Pathway description
Neurexins and neuroligins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
Show

Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 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: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gabra2tm1Uru/Gabra2tm2.1Uru,Tg(Scn10a-cre)1Rkun/0
Genetic Background: involves: C57BL/6 * DBA/2 * SJL

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 MP:0010050 hypermyelination "anomaly in the process by which myelin sheaths are formed and maintained around neurons resulting in increased myelin formation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

 MP:0010734 abnormal paranode morphology "any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode" [PMID:16224497]
Show

Allelic Composition: Epb41l3tm1Bhat/Epb41l3tm1.1Bhat,Tmem163Tg(ACTB-cre)2Mrt/0
Genetic Background: involves: FVB/N

 MP:0010735 abnormal paranodal axoglial junction morphology "any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components" [PMID:19224642]
Show

Allelic Composition: Ptch1tm1Kmmt/Ptch1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Epb41l3tm1Bhat/Epb41l3tm1.1Bhat,Tmem163Tg(ACTB-cre)2Mrt/0
Genetic Background: involves: FVB/N

 MP:0010738 abnormal internode morphology "any structrual anomaly of the intervening axon segment that is located between the juxtaparanodes and is surrounded by a single compact myelin sheath" [PMID:18929652]
Show

Allelic Composition: Snap25tm1Mtaka/Snap25tm1Mtaka
Genetic Background: B6N.129P2-Snap25tm1Mtaka

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031012 Cask / O70589 / Peripheral plasma membrane protein CASK / O14936* / calcium/calmodulin dependent serine protein kinase*  / complex / reaction
 ENSMUSG00000051790 Nlgn2 / Q69ZK9 / Neuroligin-2 / Q8NFZ4*  / complex / reaction
 ENSMUSG00000031302 Nlgn3 / Q8BYM5 / Neuroligin-3 / Q9NZ94*  / reaction / complex
 ENSMUSG00000063887 Nlgn1 / Q99K10 / Neuroligin-1 / Q8N2Q7*  / reaction / complex






 

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