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Protein

Deleted in azoospermia protein 1

Gene

DAZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells.1 Publication

GO - Molecular functioni

  • mRNA 3'-UTR binding Source: GO_Central
  • nucleotide binding Source: InterPro
  • translation activator activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:G66-31431-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in azoospermia protein 1
Gene namesi
Name:DAZ1
Synonyms:DAZ, SPGY
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome Y

Organism-specific databases

HGNCiHGNC:2682. DAZ1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure Y-linked 2 (SPGFY2)3 Publications
The disease may be caused by mutations affecting the gene represented in this entry. AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility.
Disease descriptionA disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
See also OMIM:415000

Organism-specific databases

DisGeNETi1617.
MalaCardsiDAZ1.
MIMi415000. phenotype.
OpenTargetsiENSG00000188120.
Orphaneti1646. Partial chromosome Y deletion.
PharmGKBiPA27149.

Polymorphism and mutation databases

BioMutaiDAZ1.
DMDMi44887841.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000815541 – 744Deleted in azoospermia protein 1Add BLAST744

Proteomic databases

PaxDbiQ9NQZ3.
PRIDEiQ9NQZ3.

PTM databases

iPTMnetiQ9NQZ3.
PhosphoSitePlusiQ9NQZ3.

Expressioni

Tissue specificityi

Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).3 Publications

Gene expression databases

BgeeiENSG00000188120.
CleanExiHS_DAZ1.
ExpressionAtlasiQ9NQZ3. differential.
GenevisibleiQ9NQZ3. HS.

Organism-specific databases

HPAiHPA047113.

Interactioni

Subunit structurei

Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PUM2Q8TB725EBI-997955,EBI-311190

Protein-protein interaction databases

BioGridi107986. 10 interactors.
IntActiQ9NQZ3. 8 interactors.
MINTiMINT-254473.
STRINGi9606.ENSP00000384573.

Structurei

3D structure databases

ProteinModelPortaliQ9NQZ3.
SMRiQ9NQZ3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 115RRM 1PROSITE-ProRule annotationAdd BLAST76
Domaini205 – 280RRM 2PROSITE-ProRule annotationAdd BLAST76
Domaini370 – 445RRM 3PROSITE-ProRule annotationAdd BLAST76
Domaini500 – 520DAZ-like 1Add BLAST21
Domaini524 – 544DAZ-like 2Add BLAST21
Domaini549 – 569DAZ-like 3Add BLAST21
Domaini572 – 592DAZ-like 4Add BLAST21
Domaini596 – 616DAZ-like 5Add BLAST21
Domaini620 – 640DAZ-like 6Add BLAST21
Domaini644 – 664DAZ-like 7Add BLAST21
Domaini668 – 688DAZ-like 8Add BLAST21
Domaini692 – 712DAZ-like 9Add BLAST21

Domaini

The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.

Sequence similaritiesi

Belongs to the RRM DAZ family.Curated
Contains 9 DAZ-like domains.Curated
Contains 3 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0118. Eukaryota.
COG0724. LUCA.
GeneTreeiENSGT00530000063480.
HOGENOMiHOG000207950.
HOVERGENiHBG048860.
InParanoidiQ9NQZ3.
OrthoDBiEOG091G02CS.
PhylomeDBiQ9NQZ3.
TreeFamiTF324396.

Family and domain databases

Gene3Di3.30.70.330. 5 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 3 hits.
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NQZ3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR
60 70 80 90 100
MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ
110 120 130 140 150
IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET
160 170 180 190 200
YLQPQITPNP VTQHVQSAAN PETPNSTISR EASTQSSSAA ASQGWVLPEG
210 220 230 240 250
KIVPNTVFVG GIDARMDETE IGSCFGRYGS VKEVKIITNR TGVSKGYGFV
260 270 280 290 300
SFVNDVDVQK IVGSQIHFHG KKLKLGPAIR KQKLCARHVQ PRPLVVNPPP
310 320 330 340 350
PPQFQNVWRN PNTETYLQPQ ITPNPVTQHV QSAANPETPN STISREASTQ
360 370 380 390 400
SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF GRYGSVKEVK
410 420 430 440 450
IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC
460 470 480 490 500
ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA
510 520 530 540 550
YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP
560 570 580 590 600
RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS
610 620 630 640 650
PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT GYQFPVYNYQ AFPAYPNSPV
660 670 680 690 700
QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF PAYPNSAVQV
710 720 730 740
TTGYQFHVYN YQMPPQCPVG EQRRNLWTEA YKWWYLVCLI QRRD
Length:744
Mass (Da):82,764
Last modified:March 1, 2004 - v2
Checksum:i341CB19EFC82F757
GO
Isoform 2 (identifier: Q9NQZ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     589-613: YNYQPFPAYPSSPFQVTAGYQLPVY → CEICKILVLKNAAAFLCHSKVNRSI
     614-744: Missing.

Note: No experimental confirmation available.
Show »
Length:613
Mass (Da):67,295
Checksum:iB7BA2C0A1704A86F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti287R → G in AAF91405 (PubMed:10936047).Curated1

Polymorphismi

The number as well as the precise structure of the DAZ proteins probably differs within the population.1 Publication

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056239589 – 613YNYQP…QLPVY → CEICKILVLKNAAAFLCHSK VNRSI in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_056240614 – 744Missing in isoform 2. 1 PublicationAdd BLAST131

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010088 Genomic DNA. No translation available.
AC053490 Genomic DNA. No translation available.
AC006338 Genomic DNA. No translation available.
BC114927 mRNA. Translation: AAI14928.1.
AF271087 Transcribed RNA. Translation: AAF91405.1.
AF271088 mRNA. Translation: AAF91406.1.
CCDSiCCDS48209.1. [Q9NQZ3-1]
RefSeqiNP_004072.3. NM_004081.5. [Q9NQZ3-1]
UniGeneiHs.522868.
Hs.70936.

Genome annotation databases

EnsembliENST00000382510; ENSP00000371950; ENSG00000188120. [Q9NQZ3-2]
ENST00000405239; ENSP00000384573; ENSG00000188120. [Q9NQZ3-1]
GeneIDi1617.
KEGGihsa:1617.
UCSCiuc004fvl.4. human. [Q9NQZ3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010088 Genomic DNA. No translation available.
AC053490 Genomic DNA. No translation available.
AC006338 Genomic DNA. No translation available.
BC114927 mRNA. Translation: AAI14928.1.
AF271087 Transcribed RNA. Translation: AAF91405.1.
AF271088 mRNA. Translation: AAF91406.1.
CCDSiCCDS48209.1. [Q9NQZ3-1]
RefSeqiNP_004072.3. NM_004081.5. [Q9NQZ3-1]
UniGeneiHs.522868.
Hs.70936.

3D structure databases

ProteinModelPortaliQ9NQZ3.
SMRiQ9NQZ3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107986. 10 interactors.
IntActiQ9NQZ3. 8 interactors.
MINTiMINT-254473.
STRINGi9606.ENSP00000384573.

PTM databases

iPTMnetiQ9NQZ3.
PhosphoSitePlusiQ9NQZ3.

Polymorphism and mutation databases

BioMutaiDAZ1.
DMDMi44887841.

Proteomic databases

PaxDbiQ9NQZ3.
PRIDEiQ9NQZ3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382510; ENSP00000371950; ENSG00000188120. [Q9NQZ3-2]
ENST00000405239; ENSP00000384573; ENSG00000188120. [Q9NQZ3-1]
GeneIDi1617.
KEGGihsa:1617.
UCSCiuc004fvl.4. human. [Q9NQZ3-1]

Organism-specific databases

CTDi1617.
DisGeNETi1617.
GeneCardsiDAZ1.
GeneReviewsiDAZ1.
HGNCiHGNC:2682. DAZ1.
HPAiHPA047113.
MalaCardsiDAZ1.
MIMi400003. gene.
415000. phenotype.
neXtProtiNX_Q9NQZ3.
OpenTargetsiENSG00000188120.
Orphaneti1646. Partial chromosome Y deletion.
PharmGKBiPA27149.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0118. Eukaryota.
COG0724. LUCA.
GeneTreeiENSGT00530000063480.
HOGENOMiHOG000207950.
HOVERGENiHBG048860.
InParanoidiQ9NQZ3.
OrthoDBiEOG091G02CS.
PhylomeDBiQ9NQZ3.
TreeFamiTF324396.

Enzyme and pathway databases

BioCyciZFISH:G66-31431-MONOMER.

Miscellaneous databases

GeneWikiiDAZ1.
GenomeRNAii1617.
PROiQ9NQZ3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188120.
CleanExiHS_DAZ1.
ExpressionAtlasiQ9NQZ3. differential.
GenevisibleiQ9NQZ3. HS.

Family and domain databases

Gene3Di3.30.70.330. 5 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 3 hits.
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDAZ1_HUMAN
AccessioniPrimary (citable) accession number: Q9NQZ3
Secondary accession number(s): Q1RMF9, Q9NQZ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: November 30, 2016
This is version 140 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

DAZ genes are prone to deletions but also to duplications. In a population of infertile men, DAZ genes deletions are associated with oligozoospermia but an increased number of DAZ genes is not a significant risk factor for spermatogenic failure.
The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all encoded by a strongly repeated region of the Y chromosome, in two clusters each comprising an inverted pair of DAZ genes. They are very similar, which gives their indidual characterization difficult. Thus, most experiments do not discriminate between the different members. One can therefore suppose that reported interactions with a DAZ protein involve all the 4 proteins.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome Y
    Human chromosome Y: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.