ENSMUSG00000032512


Mus musculus

Features
Gene ID: ENSMUSG00000032512
  
Biological name :Wdr48
  
Synonyms : Q8BH57 / Wdr48 / WD repeat domain 48
  
Possible biological names infered from orthology : Q8TAF3
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: F3
Gene start: 119894878
Gene end: 119926587
  
Corresponding Affymetrix probe sets: 10590191 (MoGene1.0st)   1426723_at (Mouse Genome 430 2.0 Array)   1443836_x_at (Mouse Genome 430 2.0 Array)   1447765_at (Mouse Genome 430 2.0 Array)   1452162_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000149793
Ensembl peptide - ENSMUSP00000150321
Ensembl peptide - ENSMUSP00000042509
Ensembl peptide - ENSMUSP00000149478
NCBI entrez gene - 67561     See in Manteia.
MGI - MGI:1914811
RefSeq - NM_026236
RefSeq - XM_006512246
RefSeq Peptide - NP_080512
swissprot - A0A1L1SS76
swissprot - Q8BH57
Ensembl - ENSMUSG00000032512
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q6PFM9ENSDARG00000038543Danio rerio
 wdr48aENSDARG00000102734Danio rerio
 WDR48ENSGALG00000006052Gallus gallus
 WDR48ENSG00000114742Homo sapiens


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 IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IMP
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0007338 single fertilization IMP
 biological_processGO:0008584 male gonad development IMP
 biological_processGO:0016579 protein deubiquitination ISO
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0043588 skin development IMP
 biological_processGO:0048568 embryonic organ development IMP
 biological_processGO:0048705 skeletal system morphogenesis IMP
 biological_processGO:0048872 homeostasis of number of cells IMP
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IMP
 biological_processGO:0072520 seminiferous tubule development IMP
 biological_processGO:1902525 regulation of protein monoubiquitination IMP
 cellular_componentGO:0005634 nucleus ISO
 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 ISO
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IEA


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
 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0003205 testicular atrophy "wasting of the male reproductive glands resulting in reduced size" [RGD:Rat Genome Database submission]
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Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0005431 oocyte depletion "reduced numbers or absence of germ cells in the female" [llw2:Linda Washburn , Mouse Genome Informatics Curator, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0005501 abnormal skin physiology "atypical function of the membranous protective covering of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0009674 decreased birth weight "reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]
Show

Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

 MP:0011102 partial embryonic lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Ifngr1tm1Dmer/Ifngr1tm1Dmer,Tg(Thy1-cre)1Vln/0
Genetic Background: B6.Cg-Ifngr1tm1Dmer Tg(Thy1-cre)1Vln

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027342 Pcna / P17918 / proliferating cell nuclear antigen / P12004*  / reaction / complex
 ENSMUSG00000039187 Fanci / Q8K368 / Fanconi anemia group I protein homolog / Q9NVI1* / Fanconi anemia complementation group I*  / reaction
 ENSMUSG00000028884 Rpa2 / replication protein A2 / P15927*  / reaction / complex
 ENSMUSG00000000751 Rpa1 / Q8VEE4 / Replication protein A 70 kDa DNA-binding subunit / P27694* / replication protein A1*  / complex / reaction
 ENSMUSG00000034023 Fancd2 / Q80V62 / Fanconi anemia group D2 protein homolog / Q9BXW9* / Fanconi anemia complementation group D2*  / reaction
 ENSMUSG00000012483 Rpa3 / Q9CQ71 / Replication protein A 14 kDa subunit / P35244* / replication protein A3*  / complex / reaction
 ENSMUSG00000028560 Usp1 / Q8BJQ2 / ubiquitin specific peptidase 1 / O94782*  / complex
 ENSMUSG00000046532 Ar / P19091 / Androgen receptor / P10275*  / complex
 ENSMUSG00000029640 Usp12 / Q9D9M2 / ubiquitin specific peptidase 12 / O75317*  / complex






 

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