ENSG00000114742


Homo sapiens

Features
Gene ID: ENSG00000114742
  
Biological name :WDR48
  
Synonyms : Q8TAF3 / WDR48 / WD repeat domain 48
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p22.2
Gene start: 39051998
Gene end: 39096671
  
Corresponding Affymetrix probe sets: 221735_at (Human Genome U133 Plus 2.0 Array)   222157_s_at (Human Genome U133 Plus 2.0 Array)   56919_at (Human Genome U133 Plus 2.0 Array)   65591_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000406025
Ensembl peptide - ENSP00000401421
Ensembl peptide - ENSP00000415963
Ensembl peptide - ENSP00000416900
Ensembl peptide - ENSP00000307491
Ensembl peptide - ENSP00000388720
NCBI entrez gene - 57599     See in Manteia.
OMIM - 612167
RefSeq - XM_017006960
RefSeq - NM_001303402
RefSeq - NM_001303403
RefSeq - NM_001346226
RefSeq - NM_020839
RefSeq - XM_005265346
RefSeq - XM_011533971
RefSeq Peptide - NP_065890
RefSeq Peptide - NP_001290331
RefSeq Peptide - NP_001290332
RefSeq Peptide - NP_001333155
swissprot - F8W9K4
swissprot - C9JC24
swissprot - F8W6P2
swissprot - F8W7Q3
swissprot - Q8TAF3
swissprot - A0A024R2L1
swissprot - F8W7Y5
Ensembl - ENSG00000114742
  
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
 Q6PFM9ENSDARG00000038543Danio rerio
 wdr48aENSDARG00000102734Danio rerio
 WDR48ENSGALG00000006052Gallus gallus
 Wdr48ENSMUSG00000032512Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR020472  G-protein beta WD-40 repeat
 IPR021772  Protein of unknown function DUF3337
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000724 double-strand break repair via homologous recombination IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007338 single fertilization IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016579 protein deubiquitination IDA
 biological_processGO:0035264 multicellular organism growth IEA
 biological_processGO:0036297 interstrand cross-link repair TAS
 biological_processGO:0042769 DNA damage response, detection of DNA damage TAS
 biological_processGO:0043588 skin development IEA
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:0048705 skeletal system morphogenesis IEA
 biological_processGO:0048872 homeostasis of number of cells IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0072520 seminiferous tubule development IEA
 biological_processGO:1902525 regulation of protein monoubiquitination IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity TAS


Pathways (from Reactome)
Pathway description
Recognition of DNA damage by PCNA-containing replication complex
Ub-specific processing proteases
Fanconi Anemia Pathway


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000140153 WDR20 / Q8TBZ3 / WD repeat domain 20  / complex
 ENSG00000140525 FANCI / Q9NVI1 / Fanconi anemia complementation group I  / reaction
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / reaction / complex
 ENSG00000132646 PCNA / P12004 / proliferating cell nuclear antigen  / reaction / complex
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / reaction / complex
 ENSG00000169083 AR / P10275 / androgen receptor  / complex
 ENSG00000144554 FANCD2 / Q9BXW9 / Fanconi anemia complementation group D2  / reaction
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / complex / reaction
 ENSG00000152484 USP12 / O75317 / ubiquitin specific peptidase 12  / complex
 ENSG00000162607 USP1 / O94782 / ubiquitin specific peptidase 1  / complex






 

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