ENSMUSG00000028906


Mus musculus

Features
Gene ID: ENSMUSG00000028906
  
Biological name :Epb41
  
Synonyms : Epb41 / erythrocyte membrane protein band 4.1 / P48193
  
Possible biological names infered from orthology : P11171
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: D2.3
Gene start: 131923413
Gene end: 132075321
  
Corresponding Affymetrix probe sets: 10516823 (MoGene1.0st)   1424092_at (Mouse Genome 430 2.0 Array)   1430369_at (Mouse Genome 430 2.0 Array)   1444150_at (Mouse Genome 430 2.0 Array)   1458807_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116599
Ensembl peptide - ENSMUSP00000101601
Ensembl peptide - ENSMUSP00000120236
Ensembl peptide - ENSMUSP00000148515
Ensembl peptide - ENSMUSP00000123623
Ensembl peptide - ENSMUSP00000122234
Ensembl peptide - ENSMUSP00000121764
Ensembl peptide - ENSMUSP00000030739
Ensembl peptide - ENSMUSP00000060375
Ensembl peptide - ENSMUSP00000081274
Ensembl peptide - ENSMUSP00000101590
Ensembl peptide - ENSMUSP00000101592
Ensembl peptide - ENSMUSP00000101594
Ensembl peptide - ENSMUSP00000101595
NCBI entrez gene - 269587     See in Manteia.
MGI - MGI:95401
RefSeq - XM_017320243
RefSeq - XM_006538908
RefSeq - XM_006538909
RefSeq - XM_006538910
RefSeq - XM_006538911
RefSeq - XM_006538912
RefSeq - XM_006538913
RefSeq - XM_006538915
RefSeq - XM_006538916
RefSeq - XM_006538917
RefSeq - XM_017320237
RefSeq - XM_017320238
RefSeq - XM_017320239
RefSeq - XM_017320241
RefSeq - NM_001128606
RefSeq - NM_001128607
RefSeq - NM_183428
RefSeq - XM_006538893
RefSeq - XM_006538894
RefSeq - XM_006538895
RefSeq - XM_006538896
RefSeq - XM_006538897
RefSeq - XM_006538899
RefSeq - XM_006538900
RefSeq - XM_006538901
RefSeq - XM_006538902
RefSeq - XM_006538907
RefSeq Peptide - NP_906273
RefSeq Peptide - NP_001122078
RefSeq Peptide - NP_001122079
swissprot - A2A839
swissprot - F6S4K9
swissprot - F7BUB8
swissprot - A2AD32
swissprot - A2A838
swissprot - P48193
swissprot - A0A1D5RLV1
swissprot - F7CR30
swissprot - A2A842
swissprot - A2A841
Ensembl - ENSMUSG00000028906
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 epb41aENSDARG00000099283Danio rerio
 EPB41ENSGALG00000001329Gallus gallus
 EPB41ENSG00000159023Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
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*ENSMUSG0000001997851
Q9WV92 / Epb41l3 / Band 4.1-like protein 3 Band 4.1-like protein 3, N-terminally processed / Q9Y2J2* / erythrocyte membrane protein band 4.1 like 3*ENSMUSG0000002404448
Epb41l1 / band 4.1-like protein 1 isoform d / Q9H4G0* / erythrocyte membrane protein band 4.1 like 1*ENSMUSG0000002762442
Ptpn4 / Q9WU22 / Tyrosine-protein phosphatase non-receptor type 4 / P29074* / protein tyrosine phosphatase, non-receptor type 4*ENSMUSG0000002638424
P52963 / Epb41l4a / Band 4.1-like protein 4A / Q9HCS5* / erythrocyte membrane protein band 4.1 like 4A*ENSMUSG0000002437621
Q8BGS1 / Epb41l5 / Band 4.1-like protein 5 / Q9HCM4* / erythrocyte membrane protein band 4.1 like 5*ENSMUSG0000002638321
Q9JMC8 / Epb41l4b / Band 4.1-like protein 4B / Q9H329* / erythrocyte membrane protein band 4.1 like 4B*ENSMUSG0000002843419
Ptpn3 / A2ALK8 / protein tyrosine phosphatase, non-receptor type 3 / P26045*ENSMUSG0000003876419
Frmd5 / Q6P5H6 / FERM domain-containing protein 5 / Q7Z6J6* / FERM domain containing 5*ENSMUSG0000002723818
Frmd3 / Q8BHD4 / FERM domain-containing protein 3 / A2A2Y4* / FERM domain containing 3*ENSMUSG0000004912218


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:0007010 cytoskeleton organization IEA
 biological_processGO:0007016 cytoskeletal anchoring at plasma membrane IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0008360 regulation of cell shape IEA
 biological_processGO:0030036 actin cytoskeleton organization ISS
 biological_processGO:0030866 cortical actin cytoskeleton organization IEA
 biological_processGO:0031032 actomyosin structure organization IBA
 biological_processGO:0032092 positive regulation of protein binding IEA
 biological_processGO:0051301 cell division IEA
 biological_processGO:1904778 positive regulation of protein localization to cell cortex IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0015629 actin cytoskeleton ISS
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030863 cortical cytoskeleton IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0099738 cell cortex region IEA
 molecular_functionGO:0003779 actin binding ISS
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton IBA
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005545 1-phosphatidylinositol binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0030507 spectrin binding ISS
 molecular_functionGO:0047485 protein N-terminus binding IEA
 molecular_functionGO:0051219 phosphoprotein binding IEA


Pathways (from Reactome)
Pathway description
Neurexins and neuroligins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000240 extramedullary hematopoiesis "formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000245 abnormal erythropoiesis "atypical process of red blood cell formation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001585 hemolytic anemia "an anemic condition resulting from an increased rate of erythrocyte destruction" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002447 abnormal erythrocyte morphology "structural anomaly of the cells in the blood that carry oxygen, red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002591 decreased mean corpuscular volume "less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Epb41tm1b(KOMP)Mbp/Epb41+
Genetic Background: C57BL/6N-Epb41tm1b(KOMP)Mbp/J

 MP:0002640 reticulocytosis "an increase in the number of reticulocytes in the blood" [J:78271, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002641 anisopoikilocytosis "presence in blood of RBCs of abnormal shapes and sizes" [J:78271, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002812 spherocytosis "the presence of sphere-shaped erythrocytes in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005343 increased circulating aspartate transaminase level "greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005561 increased mean corpuscular hemoglobin "greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005562 decreased mean corpuscular hemoglobin "less than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Epb41tm1b(KOMP)Mbp/Epb41+
Genetic Background: C57BL/6N-Epb41tm1b(KOMP)Mbp/J

 MP:0005641 increased mean corpuscular hemoglobin concentration "greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:8936]
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Allelic Composition: Epb41tm1b(KOMP)Mbp/Epb41+
Genetic Background: C57BL/6N-Epb41tm1b(KOMP)Mbp/J

 MP:0008476 increased spleen red pulp amount "increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008807 increased liver iron level "increase in the amount of iron present in the liver tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008808 decreased spleen iron level "reduction in the amount of iron present in the spleen tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008956 decreased cellular hemoglobin content "decrease in the mean of the red blood cell hemoglobin concentration (RBC CH) histogram, which represents the distribution of red blood cells by the amount of hemoglobin present in each individual cell independent of cell volume" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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"]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010375 increased kidney iron level "increase in the amount of iron present in the renal tissue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Epas1tm1b(EUCOMM)Hmgu/Epas1+
Genetic Background: C57BL/6N-Epas1tm1b(EUCOMM)Hmgu/H

  


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






 

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