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
PTPN3 / P26045 / protein tyrosine phosphatase, non-receptor type 3ENSG0000007015920
Q9HCS5 / EPB41L4A / erythrocyte membrane protein band 4.1 like 4AENSG0000012959520
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]
Show

 HP:0001249 Mental retardation 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr