DAZ3

Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.^[3][4]

DAZ3
Identifiers
Aliases	DAZ3, pDP1679, deleted in azoospermia 3
External IDs	OMIM: 400027; HomoloGene: 133282; GeneCards: DAZ3; OMA:DAZ3 - orthologs
Gene location (Human) Chr. Y chromosome (human)[1] Band Yq11.23 Start 24,763,069 bp[1] End 24,813,492 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad fundus body of stomach male reproductive system testicle n/a More reference expression data BioGPS n/a
Gene ontology Molecular function RNA binding nucleic acid binding translation activator activity protein binding mRNA binding mRNA 3'-UTR binding Cellular component nucleus cytoplasm intracellular anatomical structure protein-containing complex Biological process multicellular organism development cell differentiation spermatogenesis positive regulation of translational initiation 3'-UTR-mediated mRNA stabilization germ cell development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57054 n/a Ensembl ENSG00000187191 n/a UniProt Q9NR90 n/a RefSeq (mRNA) NM_020364 n/a RefSeq (protein) NP_065097 n/a Location (UCSC) Chr Y: 24.76 – 24.81 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

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 premeiotic 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 one copy of the 10.8 kb repeat.^[4]