ENSG00000187191


Homo sapiens

Features
Gene ID: ENSG00000187191
  
Biological name :DAZ3
  
Synonyms : DAZ3 / deleted in azoospermia 3 / Q9NR90
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: Y
Strand: -1
Band: q11.23
Gene start: 24763069
Gene end: 24813492
  
Corresponding Affymetrix probe sets: 207909_x_at (Human Genome U133 Plus 2.0 Array)   207912_s_at (Human Genome U133 Plus 2.0 Array)   208281_x_at (Human Genome U133 Plus 2.0 Array)   208282_x_at (Human Genome U133 Plus 2.0 Array)   216351_x_at (Human Genome U133 Plus 2.0 Array)   216922_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000324965
Ensembl peptide - ENSP00000401049
Ensembl peptide - ENSP00000371802
NCBI entrez gene - 57054     See in Manteia.
OMIM - 400027
RefSeq - NM_020364
RefSeq Peptide - NP_065097
swissprot - E7ETR3
swissprot - E7ERQ6
swissprot - Q9NR90
Ensembl - ENSG00000187191
  
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
 dazlENSDARG00000036214Danio rerio
 DAZLENSGALG00000011243Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DAZ2 / Q13117 / deleted in azoospermia 2ENSG0000020594478
DAZ1 / Q9NQZ3 / deleted in azoospermia 1ENSG0000018812078
DAZ4 / Q86SG3 / deleted in azoospermia 4ENSG0000020591677
DAZL / Q92904 / deleted in azoospermia likeENSG0000009234537
BOLL / Q8N9W6 / boule homolog, RNA binding proteinENSG0000015243017


Protein motifs (from Interpro)
Interpro ID Name
 IPR000504  RNA recognition motif domain
 IPR034778  Deleted in azoospermia protein 1-4
 IPR035979  RNA-binding domain superfamily
 IPR037366  BOULE/DAZ family
 IPR037551  DAZ, RNA recognition motif, vertebrates


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007281 germ cell development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0045948 positive regulation of translational initiation IBA
 biological_processGO:0070935 3"-UTR-mediated mRNA stabilization IBA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003729 mRNA binding IEA
 molecular_functionGO:0003730 mRNA 3"-UTR binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008494 translation activator activity IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000027 Azoospermia 
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000798 Oligospermia 
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 HP:0001450 Y-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators]
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 HP:0003251 Male infertility 
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 HP:0008734 Decreased testicular size 
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 HP:0011961 Non-obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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