ENSG00000127527


Homo sapiens

Features
Gene ID: ENSG00000127527
  
Biological name :EPS15L1
  
Synonyms : epidermal growth factor receptor pathway substrate 15 like 1 / EPS15L1 / Q9UBC2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.11
Gene start: 16355239
Gene end: 16472085
  
Corresponding Affymetrix probe sets: 221056_x_at (Human Genome U133 Plus 2.0 Array)   222112_at (Human Genome U133 Plus 2.0 Array)   222113_s_at (Human Genome U133 Plus 2.0 Array)   231926_at (Human Genome U133 Plus 2.0 Array)   232438_at (Human Genome U133 Plus 2.0 Array)   243482_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472958
Ensembl peptide - ENSP00000472771
Ensembl peptide - ENSP00000473242
Ensembl peptide - ENSP00000248070
Ensembl peptide - ENSP00000393313
Ensembl peptide - ENSP00000440103
Ensembl peptide - ENSP00000465286
Ensembl peptide - ENSP00000468866
Ensembl peptide - ENSP00000469495
Ensembl peptide - ENSP00000471662
Ensembl peptide - ENSP00000471981
Ensembl peptide - ENSP00000472135
Ensembl peptide - ENSP00000472267
NCBI entrez gene - 58513     See in Manteia.
OMIM - 616826
RefSeq - XM_017027092
RefSeq - NM_001258374
RefSeq - NM_001258375
RefSeq - NM_001258376
RefSeq - NM_021235
RefSeq - XM_017027086
RefSeq - XM_017027087
RefSeq - XM_017027088
RefSeq - XM_017027089
RefSeq - XM_017027090
RefSeq - XM_017027091
RefSeq Peptide - NP_001245303
RefSeq Peptide - NP_001245304
RefSeq Peptide - NP_001245305
RefSeq Peptide - NP_067058
swissprot - M0QY01
swissprot - Q9UBC2
swissprot - M0R1V5
swissprot - M0R2S2
swissprot - M0R330
swissprot - M0R3I1
swissprot - M0R165
swissprot - A0A024R7G6
swissprot - K7EJR2
swissprot - M0QX30
Ensembl - ENSG00000127527
  
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
 CABZ01066725.1ENSDARG00000100700Danio rerio
 eps15l1aENSDARG00000042670Danio rerio
 EPS15L1ENSGALG00000021601Gallus gallus
 Q60902ENSMUSG00000006276Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15ENSG0000008583248
ITSN2 / Q9NZM3 / intersectin 2ENSG0000019839923
ITSN1 / Q15811 / intersectin 1ENSG0000020572622
REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2ENSG0000016989115
REPS1 / Q96D71 / RALBP1 associated Eps domain containing 1ENSG0000013559715
EHD3 / Q9NZN3 / EH domain containing 3ENSG0000001301610
EHD2 / Q9NZN4 / EH domain containing 2ENSG0000002442210
EHD1 / Q9H4M9 / EH domain containing 1ENSG0000011004710
EHD4 / Q9H223 / EH domain containing 4ENSG000001039669
SRL / Q86TD4 / sarcalumeninENSG000001857396


Protein motifs (from Interpro)
Interpro ID Name
 IPR000261  EH domain
 IPR002048  EF-hand domain
 IPR003903  Ubiquitin interacting motif
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR027267  AH/BAR domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0042059 negative regulation of epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0061024 membrane organization TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030132 clathrin coat of coated pit IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
EGFR downregulation
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
Show

 HP:0001171 Ectrodactyly (hands) 
Show

 HP:0004050 Absent hands 
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
Show

 HP:0012165 Oligodactyly "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson]
Show

  


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






 

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contact: otassy@igbmc.fr