ENSG00000188120


Homo sapiens

Features
Gene ID: ENSG00000188120
  
Biological name :DAZ1
  
Synonyms : DAZ1 / deleted in azoospermia 1 / Q9NQZ3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: Y
Strand: -1
Band: q11.223
Gene start: 23129355
Gene end: 23199094
  
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 - ENSP00000371950
Ensembl peptide - ENSP00000484907
Ensembl peptide - ENSP00000444407
Ensembl peptide - ENSP00000400716
Ensembl peptide - ENSP00000384573
NCBI entrez gene - 1617     See in Manteia.
OMIM - 400003
RefSeq - XM_011531483
RefSeq - NM_004081
RefSeq - XM_011531482
RefSeq Peptide - NP_004072
swissprot - A0A140VJH5
swissprot - Q9NQZ3
swissprot - A0A087X2D7
swissprot - A0A0A0MSR9
Ensembl - ENSG00000188120
  
Related genetic diseases (OMIM): 400003 - ?Sertoli-cell-only syndrome
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(%)
DAZ3 / Q9NR90 / deleted in azoospermia 3ENSG0000018719146
DAZ2 / Q13117 / deleted in azoospermia 2ENSG0000020594442
DAZ4 / Q86SG3 / deleted in azoospermia 4ENSG0000020591641
DAZL / Q92904 / deleted in azoospermia likeENSG0000009234522
BOLL / Q8N9W6 / boule homolog, RNA binding proteinENSG0000015243010


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 IDA
 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 IDA


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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