ENSG00000159023


Homo sapiens

Features
Gene ID: ENSG00000159023
  
Biological name :EPB41
  
Synonyms : EPB41 / erythrocyte membrane protein band 4.1 / P11171
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p35.3
Gene start: 28887091
Gene end: 29120046
  
Corresponding Affymetrix probe sets: 1554481_a_at (Human Genome U133 Plus 2.0 Array)   207793_s_at (Human Genome U133 Plus 2.0 Array)   214530_x_at (Human Genome U133 Plus 2.0 Array)   225051_at (Human Genome U133 Plus 2.0 Array)   236379_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496675
Ensembl peptide - ENSP00000496326
Ensembl peptide - ENSP00000496751
Ensembl peptide - ENSP00000290100
Ensembl peptide - ENSP00000317597
Ensembl peptide - ENSP00000345259
Ensembl peptide - ENSP00000348397
Ensembl peptide - ENSP00000362903
Ensembl peptide - ENSP00000362904
Ensembl peptide - ENSP00000362906
Ensembl peptide - ENSP00000490911
Ensembl peptide - ENSP00000493575
Ensembl peptide - ENSP00000493958
Ensembl peptide - ENSP00000494042
Ensembl peptide - ENSP00000494212
Ensembl peptide - ENSP00000494244
Ensembl peptide - ENSP00000494357
Ensembl peptide - ENSP00000494435
Ensembl peptide - ENSP00000494945
Ensembl peptide - ENSP00000495138
Ensembl peptide - ENSP00000495300
Ensembl peptide - ENSP00000495565
Ensembl peptide - ENSP00000495763
Ensembl peptide - ENSP00000496077
Ensembl peptide - ENSP00000496138
NCBI entrez gene - 2035     See in Manteia.
OMIM - 130500
RefSeq - XM_017000604
RefSeq - NM_001166005
RefSeq - NM_001166006
RefSeq - NM_001166007
RefSeq - NM_004437
RefSeq - NM_203342
RefSeq - NM_203343
RefSeq - XM_017000595
RefSeq - XM_017000596
RefSeq - XM_017000597
RefSeq - XM_017000598
RefSeq - XM_017000599
RefSeq - XM_017000600
RefSeq - XM_017000601
RefSeq - XM_017000602
RefSeq - XM_017000603
RefSeq - XM_005245753
RefSeq - XM_005245757
RefSeq - XM_005245760
RefSeq - XM_005245761
RefSeq - XM_005245763
RefSeq - XM_005245764
RefSeq - XM_005245765
RefSeq - XM_005245768
RefSeq - XM_005245769
RefSeq - XM_005245770
RefSeq - XM_005245772
RefSeq - XM_005245773
RefSeq - XM_005245774
RefSeq - XM_006710434
RefSeq - XM_006710439
RefSeq - XM_011540956
RefSeq - XM_011540957
RefSeq - XM_011540958
RefSeq - XM_011540959
RefSeq - XM_011540960
RefSeq - XM_011540961
RefSeq - XM_011540962
RefSeq - XM_011540963
RefSeq - XM_011540964
RefSeq - XM_011540965
RefSeq - XM_017000581
RefSeq - XM_017000582
RefSeq - XM_017000583
RefSeq - XM_017000584
RefSeq - XM_017000585
RefSeq - XM_017000586
RefSeq - XM_017000587
RefSeq - XM_017000588
RefSeq - XM_017000589
RefSeq - XM_017000590
RefSeq - XM_017000591
RefSeq - XM_017000592
RefSeq - XM_017000593
RefSeq - XM_017000594
RefSeq Peptide - NP_001159477
RefSeq Peptide - NP_001159478
RefSeq Peptide - NP_001159479
RefSeq Peptide - NP_004428
RefSeq Peptide - NP_976217
RefSeq Peptide - NP_976218
swissprot - P11171
swissprot - Q4VB86
swissprot - A0A1B0GWG0
Ensembl - ENSG00000159023
  
Related genetic diseases (OMIM): 611804 - Elliptocytosis-1, 611804
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 epb41aENSDARG00000099283Danio rerio
 EPB41ENSGALG00000001329Gallus gallus
 Epb41ENSMUSG00000028906Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O43491 / EPB41L2 / erythrocyte membrane protein band 4.1 like 2ENSG0000007981952
Q9Y2J2 / EPB41L3 / erythrocyte membrane protein band 4.1 like 3ENSG0000008239748
Q9H4G0 / EPB41L1 / erythrocyte membrane protein band 4.1 like 1ENSG0000008836742
PTPN4 / P29074 / protein tyrosine phosphatase, non-receptor type 4ENSG0000008817924
Q9H329 / EPB41L4B / erythrocyte membrane protein band 4.1 like 4BENSG0000009520323
Q9HCM4 / EPB41L5 / erythrocyte membrane protein band 4.1 like 5ENSG0000011510922
Q9HCS5 / EPB41L4A / erythrocyte membrane protein band 4.1 like 4AENSG0000012959521
PTPN3 / P26045 / protein tyrosine phosphatase, non-receptor type 3ENSG0000007015920
FRMD5 / Q7Z6J6 / FERM domain containing 5ENSG0000017187719
FRMD3 / A2A2Y4 / FERM domain containing 3ENSG0000017215918


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
 IPR035963  FERM superfamily, second domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0030036 actin cytoskeleton organization NAS
 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 IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0014731 spectrin-associated cytoskeleton TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IDA
 cellular_componentGO:0030863 cortical cytoskeleton IEA
 cellular_componentGO:0032991 protein-containing complex IMP
 cellular_componentGO:0099738 cell cortex region IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005545 1-phosphatidylinositol binding IDA
 molecular_functionGO:0008022 protein C-terminus binding IMP
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0030507 spectrin binding TAS
 molecular_functionGO:0047485 protein N-terminus binding IMP
 molecular_functionGO:0051219 phosphoprotein binding IMP


Pathways (from Reactome)
Pathway description
Neurexins and neuroligins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001878 Hemolytic anemia 
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 HP:0004445 Elliptocytosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000147044 CASK / O14936 / calcium/calmodulin dependent serine protein kinase  / reaction / complex






 

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