DAZ1

Protein identityUniProt · HPA

UniProt accession

Q9NQZ3

Gene

DAZ1

Ensembl

ENSG00000188120

Chromosome

Y

Canonical length

744 aa

Protein class

Disease related genes, Human 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 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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

744 residues, UniProt reviewed canonical sequence.

>Q9NQZ3|DAZ1
     1  MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF
    61  GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC
   121  ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQSAAN PETPNSTISR
   181  EASTQSSSAA ASQGWVLPEG KIVPNTVFVG GIDARMDETE IGSCFGRYGS VKEVKIITNR
   241  TGVSKGYGFV SFVNDVDVQK IVGSQIHFHG KKLKLGPAIR KQKLCARHVQ PRPLVVNPPP
   301  PPQFQNVWRN PNTETYLQPQ ITPNPVTQHV QSAANPETPN STISREASTQ SSSAAASQGW
   361  VLPEGKIVPN TVFVGGIDAR MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND
   421  VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET
   481  YLQPQITPNP VTQHVQAYSA YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV
   541  YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS
   601  PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV
   661  YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF PAYPNSAVQV TTGYQFHVYN YQMPPQCPVG
   721  EQRRNLWTEA YKWWYLVCLI QRRD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DAZ1 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)

0.45

Highest tissue expression

1.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DAZ1.

Disease | AllUniProt

Conditions DAZ1 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

• mRNA 3'-UTR binding
• translation activator activity

Cellular components

• cytoplasm
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Nucleotide-binding alpha-beta plait domain superfamily
• RNA-binding domain superfamily
• DAZ, RNA recognition motif, vertebrates
• DAZ domain
• RNA recognition motif
• Daz repeat

KeywordsUniProt

• Cytoplasm
• Developmental protein
• Differentiation
• Nucleus
• Repeat
• RNA-binding
• Spermatogenesis

InteractionsUniProt · HPA

Protein binding partners of DAZ1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DAZAP1
• DAZAP2
• DZIP1
• DZIP3
• PUM2
• BOLL
• DAZL