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DAZL

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Protein-coding gene in the species Homo sapiens
DAZL
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2XS2, 2XS5, 2XS7, 2XSF

Identifiers
AliasesDAZL, DAZH, DAZL1, DAZLA, SPGYLA, deleted in azoospermia like
External IDsOMIM: 601486; MGI: 1342328; HomoloGene: 1034; GeneCards: DAZL; OMA:DAZL - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)
Chromosome 3 (human)Genomic location for DAZLGenomic location for DAZL
Band3p24.3Start16,586,792 bp
End16,670,306 bp
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)
Chromosome 17 (mouse)Genomic location for DAZLGenomic location for DAZL
Band17 C|17 25.86 cMStart50,586,423 bp
End50,600,664 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • oocyte

  • secondary oocyte

  • gonad

  • right testis

  • left testis

  • sperm

  • testicle

  • appendix

  • metanephros

  • lymph node
Top expressed in
  • spermatocyte

  • spermatid

  • egg cell

  • Gonadal ridge

  • secondary oocyte

  • zygote

  • primary oocyte

  • seminiferous tubule

  • ovary

  • morula
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1618

13164

Ensembl

ENSG00000092345

ENSMUSG00000010592

UniProt

Q92904

Q64368

RefSeq (mRNA)

NM_001351
NM_001190811

NM_001277863
NM_010021

RefSeq (protein)

NP_001177740
NP_001342

NP_001264792
NP_034151

Location (UCSC)Chr 3: 16.59 – 16.67 MbChr 17: 50.59 – 50.6 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Deleted in azoospermia-like is a protein that in humans is encoded by the DAZL gene.

Function

The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males.

In mice and pigs deficient in DAZL, PGCs migrate to the gonad but do not undertake germ cell determination, and may instead produce germ cell tumors.

Interactions

DAZL has been shown to interact with DAZ1.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000092345Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000010592Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (Nov 1996). "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned". Nature Genetics. 14 (3): 292–9. doi:10.1038/ng1196-292. PMID 8896558. S2CID 34964224.
  6. "Entrez Gene: DAZL deleted in azoospermia-like".
  7. Nicholls PK, Schorle H, Naqvi S, Hu YC, Fan Y, Carmell MA, Dobrinski I, Watson AL, Carlson DF, Fahrenkrug SC, Page DC (2019-11-21). "Mammalian germ cells are determined after PGC colonization of the nascent gonad". Proceedings of the National Academy of Sciences. 116 (51): 25677–25687. Bibcode:2019PNAS..11625677N. doi:10.1073/pnas.1910733116. ISSN 0027-8424. PMC 6925976. PMID 31754036.
  8. 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.
  9. 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.

Further reading


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