DAZ1 (deleted in azoospermia 1)

2015-03-01  

Identity

HGNC
LOCATION
Yq11.223
LOCUSID
ALIAS
DAZ,SPGY

Other Information

Locus ID:

NCBI: 1617
MIM: 400003
HGNC: 2682
Ensembl: ENSG00000188120

Variants:

dbSNP: 1617
ClinVar: 1617
TCGA: ENSG00000188120
COSMIC: DAZ1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188120ENST00000382510Q9NQZ3
ENSG00000188120ENST00000405239Q9NQZ3
ENSG00000188120ENST00000405239A0A140VJH5
ENSG00000188120ENST00000426000A0A0A0MSR9
ENSG00000188120ENST00000620725A0A087X2D7

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198650852009Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.145
160010842005The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells.87
125115972003Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins.66
118702372002High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.40
174128802007Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility.30
166745532006A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians.19
200399732010Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population.15
168487632006Phosphorylation of the ARE-binding protein DAZAP1 by ERK2 induces its dissociation from DAZ.13
160853822005Polymorphisms associated with the DAZ genes on the human Y chromosome.12
178817212007Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis.12

Citation

Dessen P

DAZ1 (deleted in azoospermia 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55626/daz1