ENSG00000135597


Homo sapiens

Features
Gene ID: ENSG00000135597
  
Biological name :REPS1
  
Synonyms : Q96D71 / RALBP1 associated Eps domain containing 1 / REPS1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q24.1
Gene start: 138903493
Gene end: 138988261
  
Corresponding Affymetrix probe sets: 215201_at (Human Genome U133 Plus 2.0 Array)   215922_at (Human Genome U133 Plus 2.0 Array)   224366_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435392
Ensembl peptide - ENSP00000435236
Ensembl peptide - ENSP00000487438
Ensembl peptide - ENSP00000258062
Ensembl peptide - ENSP00000356635
Ensembl peptide - ENSP00000386699
Ensembl peptide - ENSP00000392065
Ensembl peptide - ENSP00000397941
Ensembl peptide - ENSP00000401729
Ensembl peptide - ENSP00000402609
Ensembl peptide - ENSP00000403740
Ensembl peptide - ENSP00000431474
Ensembl peptide - ENSP00000432157
Ensembl peptide - ENSP00000434251
Ensembl peptide - ENSP00000435131
NCBI entrez gene - 85021     See in Manteia.
OMIM - 614825
RefSeq - XM_017011389
RefSeq - NM_001128617
RefSeq - NM_001286611
RefSeq - NM_001286612
RefSeq - NM_031922
RefSeq - XM_005267177
RefSeq - XM_005267178
RefSeq - XM_005267179
RefSeq - XM_011536202
RefSeq - XM_017011387
RefSeq - XM_017011388
RefSeq Peptide - NP_001122089
RefSeq Peptide - NP_001273540
RefSeq Peptide - NP_001273541
RefSeq Peptide - NP_114128
swissprot - H0YCR2
swissprot - Q96D71
swissprot - H0YE73
swissprot - H0YE89
swissprot - H7C1V2
swissprot - H7C225
swissprot - H0YDT0
swissprot - E9PMG1
swissprot - F2Z3L2
swissprot - H0YCF0
Ensembl - ENSG00000135597
  
Related genetic diseases (OMIM): 617916 - ?Neurodegeneration with brain iron accumulation 7, 617916
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
 reps1ENSDARG00000002877Danio rerio
 REPS1ENSGALG00000013829Gallus gallus
 Reps1ENSMUSG00000019854Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2ENSG0000016989134
EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15ENSG0000008583218
Q9UBC2 / EPS15L1 / epidermal growth factor receptor pathway substrate 15 like 1ENSG0000012752717
ITSN2 / Q9NZM3 / intersectin 2ENSG0000019839916
ITSN1 / Q15811 / intersectin 1ENSG0000020572615
EHD1 / Q9H4M9 / EH domain containing 1ENSG000001100477
EHD4 / Q9H223 / EH domain containing 4ENSG000001039667
EHD2 / Q9NZN4 / EH domain containing 2ENSG000000244227
EHD3 / Q9NZN3 / EH domain containing 3ENSG000000130167
SRL / Q86TD4 / sarcalumeninENSG000001857395


Protein motifs (from Interpro)
Interpro ID Name
 IPR000261  EH domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR026814  RalBP1-associated Eps domain-containing protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006898 receptor-mediated endocytosis IEA
 biological_processGO:0061024 membrane organization TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017124 SH3 domain binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


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






 

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