DAZ1

Deleted in azoospermia 1, also known as DAZ1, is a protein which in humans is encoded by the DAZ1 gene.[3][4]

DAZ1
Identifiers
AliasesDAZ1, DAZ, SPGY, deleted in azoospermia 1
External IDsOMIM: 400003 HomoloGene: 88435 GeneCards: DAZ1
Gene location (Human)
Chr.Y chromosome (human)[1]
BandYq11.223Start23,129,355 bp[1]
End23,199,094 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1617

n/a

Ensembl

ENSG00000188120

n/a

UniProt

Q9NQZ3

n/a

RefSeq (mRNA)

NM_004081

n/a

RefSeq (protein)

NP_004072

n/a

Location (UCSC)Chr Y: 23.13 – 23.2 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Function

This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to pre-meiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains.[3]

Interactions

DAZ1 has been shown to interact with DAZAP2,[5] DAZL[5][6] and DAZ associated protein 1.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000188120 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Entrez Gene: DAZ1 deleted in azoospermia 1".
  4. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O (Aug 1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature Genetics. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487.
  5. Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (May 2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics. 65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID 10857750.
  6. Ruggiu M, Cooke HJ (Jul 2000). "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein". Gene. 252 (1–2): 119–26. doi:10.1016/S0378-1119(00)00219-5. PMID 10903443.

Further reading


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