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
Aliases	DAZ1, DAZ, SPGY, deleted in azoospermia 1
External IDs	OMIM: 400003; HomoloGene: 88435; GeneCards: DAZ1; OMA:DAZ1 - orthologs
Gene location (Human) Chr. Y chromosome (human)[1] Band Yq11.223 Start 23,129,355 bp[1] End 23,199,010 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad right testis left testis fundus body of stomach skin of abdomen Achilles tendon skin of leg right lobe of liver n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function translation activator activity protein binding RNA binding nucleic acid binding mRNA binding mRNA 3'-UTR binding Cellular component nucleus cytoplasm intracellular anatomical structure protein-containing complex Biological process multicellular organism development cell differentiation positive regulation of translational initiation spermatogenesis 3'-UTR-mediated mRNA stabilization germ cell development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1617 n/a Ensembl ENSG00000188120 n/a UniProt Q9NQZ3 n/a RefSeq (mRNA) NM_004081 NM_001388496 n/a RefSeq (protein) NP_004072 n/a Location (UCSC) Chr Y: 23.13 – 23.2 Mb n/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]