DAZ3
Deleted in azoospermia protein 3
Also known as: DAZ3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NR90
- Gene
- DAZ3
- Ensembl
- ENSG00000187191
- Chromosome
- Y
- Canonical length
- 486 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
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. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
486 residues, UniProt reviewed canonical sequence.
>Q9NR90|DAZ3
1 MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF
61 GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC
121 ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT
181 GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF
241 PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT
301 GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPFQVATGY QFPVYNYQAF
361 PAYPNSPVQV TTGYQLPVYN YQAFPAYPNS PFQVATGYQF PVYNYQAFPA YPNSPVQVTT
421 GYQLPVYNYQ AFPAYPNSAV QVTTGYQFHV YNYQMPPQCP VGEQRRNLWT EAYKWWYLVC
481 LIQRRDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DAZ3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 2.3 nTPM
Expression across tissuesHPA
Tissue
- testis: 2.3 nTPM
- stomach: 0.6 nTPM
- skin: 0.3 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
Single-cell type
- adipocytes: 0 nCPM
- adrenal cortex cells: 0 nCPM
- adrenal medulla cells: 0 nCPM
- alveolar cells type 1: 0 nCPM
- alveolar cells type 2: 0 nCPM
- b-cells: 0 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DAZ3.
Disease | AllUniProt
Conditions DAZ3 is implicated in, by any mechanism.
- Spermatogenic failure Y-linked 2 (SPGFY2) MIM:415000
OntologyGO
Biological processes
- 3'-UTR-mediated mRNA stabilization
- cell differentiation
- positive regulation of translational initiation
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DAZ3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DAZ3 as an antibody target. Whether an autoantibody or antibody against DAZ3 could matter depends on whether native DAZ3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DAZ3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DAZ3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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