ENSG00000088367


Homo sapiens

Features
Gene ID: ENSG00000088367
  
Biological name :EPB41L1
  
Synonyms : EPB41L1 / erythrocyte membrane protein band 4.1 like 1 / Q9H4G0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q11.23
Gene start: 36091504
Gene end: 36232799
  
Corresponding Affymetrix probe sets: 212336_at (Human Genome U133 Plus 2.0 Array)   212339_at (Human Genome U133 Plus 2.0 Array)   222066_at (Human Genome U133 Plus 2.0 Array)   230289_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000413262
Ensembl peptide - ENSP00000408877
Ensembl peptide - ENSP00000487049
Ensembl peptide - ENSP00000489867
Ensembl peptide - ENSP00000202028
Ensembl peptide - ENSP00000337168
Ensembl peptide - ENSP00000363052
Ensembl peptide - ENSP00000363056
Ensembl peptide - ENSP00000363057
Ensembl peptide - ENSP00000363061
Ensembl peptide - ENSP00000385244
Ensembl peptide - ENSP00000388281
Ensembl peptide - ENSP00000390262
Ensembl peptide - ENSP00000393106
Ensembl peptide - ENSP00000396366
Ensembl peptide - ENSP00000399214
Ensembl peptide - ENSP00000404341
Ensembl peptide - ENSP00000406464
NCBI entrez gene - 2036     See in Manteia.
OMIM - 602879
RefSeq - XM_017027720
RefSeq - NM_177996
RefSeq - XM_011528667
RefSeq - XM_011528671
RefSeq - XM_011528673
RefSeq - XM_011528677
RefSeq - XM_011528681
RefSeq - XM_011528682
RefSeq - XM_011528683
RefSeq - XM_011528685
RefSeq - XM_017027711
RefSeq - XM_017027712
RefSeq - XM_017027713
RefSeq - XM_017027714
RefSeq - XM_017027715
RefSeq - XM_017027716
RefSeq - XM_017027717
RefSeq - XM_017027718
RefSeq - XM_017027719
RefSeq - NM_001258329
RefSeq - NM_001258330
RefSeq - NM_001258331
RefSeq - NM_012156
RefSeq Peptide - NP_001245258
RefSeq Peptide - NP_001245259
RefSeq Peptide - NP_001245260
RefSeq Peptide - NP_036288
RefSeq Peptide - NP_818932
swissprot - Q9H4G0
swissprot - X6RC15
swissprot - A0A0C4DH22
swissprot - Q4VXN0
swissprot - Q4VXN1
swissprot - Q4VXN2
swissprot - Q4VXN5
swissprot - A0A1B0GTW6
swissprot - Q4VXN6
swissprot - H0Y482
swissprot - H7C2K6
swissprot - Q4VXN7
swissprot - Q4VXN8
Ensembl - ENSG00000088367
  
Related genetic diseases (OMIM): 614257 - ?Mental retardation, autosomal dominant 11, 614257
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
 si:dkey-178k16.1ENSDARG00000076364Danio rerio
 EPB41L1ENSGALG00000034171Gallus gallus
 Epb41l1ENSMUSG00000027624Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Y2J2 / EPB41L3 / erythrocyte membrane protein band 4.1 like 3ENSG0000008239750
O43491 / EPB41L2 / erythrocyte membrane protein band 4.1 like 2ENSG0000007981947
EPB41 / P11171 / erythrocyte membrane protein band 4.1ENSG0000015902342
PTPN4 / P29074 / protein tyrosine phosphatase, non-receptor type 4ENSG0000008817925
Q9H329 / EPB41L4B / erythrocyte membrane protein band 4.1 like 4BENSG0000009520322
Q9HCM4 / EPB41L5 / erythrocyte membrane protein band 4.1 like 5ENSG0000011510922
Q9HCS5 / EPB41L4A / erythrocyte membrane protein band 4.1 like 4AENSG0000012959520
PTPN3 / P26045 / protein tyrosine phosphatase, non-receptor type 3ENSG0000007015920
FRMD5 / Q7Z6J6 / FERM domain containing 5ENSG0000017187720
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:0030866 cortical actin cytoskeleton organization IEA
 biological_processGO:0031032 actomyosin structure organization IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
Trafficking of AMPA receptors
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:0001249 Mental retardation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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