UniProtKB - Q9NQZ3 (DAZ1_HUMAN)
Protein
Deleted in azoospermia protein 1
Gene
DAZ1
Organism
Homo sapiens (Human)
Status
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
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.
GO - Molecular functioni
- mRNA 3'-UTR binding Source: GO_Central
- translation activator activity Source: UniProtKB
GO - Biological processi
- 3'-UTR-mediated mRNA stabilization Source: GO_Central
- cell differentiation Source: UniProtKB-KW
- multicellular organism development Source: UniProtKB-KW
- positive regulation of translational initiation Source: UniProtKB
- spermatogenesis Source: UniProtKB-KW
Keywordsi
Molecular function | Developmental protein, RNA-binding |
Biological process | Differentiation, Spermatogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q9NQZ3 |
Names & Taxonomyi
Protein namesi | Recommended name: Deleted in azoospermia protein 1 |
Gene namesi | Name:DAZ1 Synonyms:DAZ, SPGY |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000188120.14 |
HGNCi | HGNC:2682, DAZ1 |
MIMi | 400003, gene |
neXtProti | NX_Q9NQZ3 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Other locations
- Cytoplasm 1 Publication
Note: Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis.
Nucleus
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 1617 |
GeneReviewsi | DAZ1 |
MalaCardsi | DAZ1 |
MIMi | 415000, phenotype |
OpenTargetsi | ENSG00000188120 |
Orphaneti | 1646, Partial chromosome Y deletion |
PharmGKBi | PA27149 |
Miscellaneous databases
Pharosi | Q9NQZ3, Tbio |
Polymorphism and mutation databases
BioMutai | DAZ1 |
DMDMi | 44887841 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000081554 | 1 – 744 | Deleted in azoospermia protein 1Add BLAST | 744 |
Proteomic databases
PaxDbi | Q9NQZ3 |
PRIDEi | Q9NQZ3 |
ProteomicsDBi | 61241 82232 [Q9NQZ3-1] |
PTM databases
iPTMneti | Q9NQZ3 |
PhosphoSitePlusi | Q9NQZ3 |
Expressioni
Tissue specificityi
Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).3 Publications
Gene expression databases
Bgeei | ENSG00000188120, Expressed in fundus of stomach and 33 other tissues |
ExpressionAtlasi | Q9NQZ3, baseline and differential |
Genevisiblei | Q9NQZ3, HS |
Organism-specific databases
HPAi | ENSG00000188120, Group enriched (stomach, testis) |
Interactioni
Subunit structurei
Forms a heterodimer with BOLL and DAZL.
Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
4 PublicationsBinary interactionsi
Q9NQZ3
With | #Exp. | IntAct |
---|---|---|
PUM2 [Q8TB72] | 5 | EBI-997955,EBI-311190 |
Protein-protein interaction databases
BioGRIDi | 107986, 10 interactors |
IntActi | Q9NQZ3, 8 interactors |
Miscellaneous databases
RNActi | Q9NQZ3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 40 – 115 | RRM 1PROSITE-ProRule annotationAdd BLAST | 76 | |
Domaini | 205 – 280 | RRM 2PROSITE-ProRule annotationAdd BLAST | 76 | |
Domaini | 370 – 445 | RRM 3PROSITE-ProRule annotationAdd BLAST | 76 | |
Domaini | 497 – 520 | DAZ 1PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 521 – 544 | DAZ 2PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 545 – 568 | DAZ 3PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 569 – 592 | DAZ 4PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 593 – 616 | DAZ 5PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 617 – 640 | DAZ 6PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 641 – 664 | DAZ 7PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 665 – 688 | DAZ 8PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 689 – 712 | DAZ 9PROSITE-ProRule annotationAdd BLAST | 24 |
Domaini
The DAZ domains are essential and mediate the interaction with DAZAP1 and DAZAP2.
Sequence similaritiesi
Belongs to the RRM DAZ family.PROSITE-ProRule annotation
Keywords - Domaini
RepeatPhylogenomic databases
GeneTreei | ENSGT00530000063480 |
HOGENOMi | CLU_022076_0_0_1 |
InParanoidi | Q9NQZ3 |
PhylomeDBi | Q9NQZ3 |
TreeFami | TF324396 |
Family and domain databases
CDDi | cd12672, RRM_DAZL, 3 hits |
Gene3Di | 3.30.70.330, 3 hits |
InterProi | View protein in InterPro IPR037366, BOULE/DAZ IPR034778, DAZ1-4 IPR043628, DAZ_dom IPR037551, DAZ_RRM_vert IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR000504, RRM_dom |
PANTHERi | PTHR11176, PTHR11176, 11 hits PTHR11176:SF8, PTHR11176:SF8, 11 hits |
Pfami | View protein in Pfam PF18872, Daz, 9 hits PF00076, RRM_1, 3 hits |
SMARTi | View protein in SMART SM00360, RRM, 3 hits |
SUPFAMi | SSF54928, SSF54928, 3 hits |
PROSITEi | View protein in PROSITE PS51890, DAZ, 9 hits PS50102, RRM, 3 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NQZ3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087X2D7 | A0A087X2D7_HUMAN | Deleted in azoospermia protein 1 | DAZ1 | 486 | Annotation score: | ||
A0A0A0MSR9 | A0A0A0MSR9_HUMAN | Deleted in azoospermia protein 1 | DAZ1 | 366 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 287 | R → G in AAF91405 (PubMed:10936047).Curated | 1 |
Polymorphismi
The number as well as the precise structure of the DAZ proteins probably differs within the population.1 Publication
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056239 | 589 – 613 | YNYQP…QLPVY → CEICKILVLKNAAAFLCHSK VNRSI in isoform 2. 1 PublicationAdd BLAST | 25 | |
Alternative sequenceiVSP_056240 | 614 – 744 | Missing in isoform 2. 1 PublicationAdd BLAST | 131 |
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 |
CCDSi | CCDS48209.1 [Q9NQZ3-1] |
RefSeqi | NP_004072.3, NM_004081.5 [Q9NQZ3-1] |
Genome annotation databases
Ensembli | ENST00000382510; ENSP00000371950; ENSG00000188120 [Q9NQZ3-2] ENST00000405239; ENSP00000384573; ENSG00000188120 [Q9NQZ3-1] |
GeneIDi | 1617 |
KEGGi | hsa:1617 |
UCSCi | uc004fvl.4, human [Q9NQZ3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS48209.1 [Q9NQZ3-1] |
RefSeqi | NP_004072.3, NM_004081.5 [Q9NQZ3-1] |
3D structure databases
SMRi | Q9NQZ3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107986, 10 interactors |
IntActi | Q9NQZ3, 8 interactors |
PTM databases
iPTMneti | Q9NQZ3 |
PhosphoSitePlusi | Q9NQZ3 |
Polymorphism and mutation databases
BioMutai | DAZ1 |
DMDMi | 44887841 |
Proteomic databases
PaxDbi | Q9NQZ3 |
PRIDEi | Q9NQZ3 |
ProteomicsDBi | 61241 82232 [Q9NQZ3-1] |
Protocols and materials databases
Antibodypediai | 21891, 178 antibodies |
Genome annotation databases
Ensembli | ENST00000382510; ENSP00000371950; ENSG00000188120 [Q9NQZ3-2] ENST00000405239; ENSP00000384573; ENSG00000188120 [Q9NQZ3-1] |
GeneIDi | 1617 |
KEGGi | hsa:1617 |
UCSCi | uc004fvl.4, human [Q9NQZ3-1] |
Organism-specific databases
CTDi | 1617 |
DisGeNETi | 1617 |
EuPathDBi | HostDB:ENSG00000188120.14 |
GeneCardsi | DAZ1 |
GeneReviewsi | DAZ1 |
HGNCi | HGNC:2682, DAZ1 |
HPAi | ENSG00000188120, Group enriched (stomach, testis) |
MalaCardsi | DAZ1 |
MIMi | 400003, gene 415000, phenotype |
neXtProti | NX_Q9NQZ3 |
OpenTargetsi | ENSG00000188120 |
Orphaneti | 1646, Partial chromosome Y deletion |
PharmGKBi | PA27149 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00530000063480 |
HOGENOMi | CLU_022076_0_0_1 |
InParanoidi | Q9NQZ3 |
PhylomeDBi | Q9NQZ3 |
TreeFami | TF324396 |
Enzyme and pathway databases
PathwayCommonsi | Q9NQZ3 |
Miscellaneous databases
BioGRID-ORCSi | 1617, 2 hits in 91 CRISPR screens |
ChiTaRSi | DAZ1, human |
GeneWikii | DAZ1 |
GenomeRNAii | 1617 |
Pharosi | Q9NQZ3, Tbio |
PROi | PR:Q9NQZ3 |
RNActi | Q9NQZ3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000188120, Expressed in fundus of stomach and 33 other tissues |
ExpressionAtlasi | Q9NQZ3, baseline and differential |
Genevisiblei | Q9NQZ3, HS |
Family and domain databases
CDDi | cd12672, RRM_DAZL, 3 hits |
Gene3Di | 3.30.70.330, 3 hits |
InterProi | View protein in InterPro IPR037366, BOULE/DAZ IPR034778, DAZ1-4 IPR043628, DAZ_dom IPR037551, DAZ_RRM_vert IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR000504, RRM_dom |
PANTHERi | PTHR11176, PTHR11176, 11 hits PTHR11176:SF8, PTHR11176:SF8, 11 hits |
Pfami | View protein in Pfam PF18872, Daz, 9 hits PF00076, RRM_1, 3 hits |
SMARTi | View protein in SMART SM00360, RRM, 3 hits |
SUPFAMi | SSF54928, SSF54928, 3 hits |
PROSITEi | View protein in PROSITE PS51890, DAZ, 9 hits PS50102, RRM, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DAZ1_HUMAN | |
Accessioni | Q9NQZ3Primary (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: | December 2, 2020 | |
This is version 173 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome Y
Human chromosome Y: entries, gene names and cross-references to MIM