UniProtKB - Q9NR90 (DAZ3_HUMAN)
Protein
Deleted in azoospermia protein 3
Gene
DAZ3
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.
Miscellaneous
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: GO_Central
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: GO_Central
- spermatogenesis Source: UniProtKB-KW
Keywordsi
Molecular function | Developmental protein, RNA-binding |
Biological process | Differentiation, Spermatogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q9NR90 |
Names & Taxonomyi
Protein namesi | Recommended name: Deleted in azoospermia protein 3 |
Gene namesi | Name:DAZ3 |
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:ENSG00000187191.14 |
HGNCi | HGNC:15965, DAZ3 |
MIMi | 400027, gene |
neXtProti | NX_Q9NR90 |
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-SubCell
Other locations
- cytoplasm Source: GO_Central
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Spermatogenic failure Y-linked 2 (SPGFY2)2 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 | 57054 |
GeneReviewsi | DAZ3 |
MalaCardsi | DAZ3 |
MIMi | 415000, phenotype |
OpenTargetsi | ENSG00000187191 |
Orphaneti | 1646, Partial chromosome Y deletion |
PharmGKBi | PA27151 |
Miscellaneous databases
Pharosi | Q9NR90, Tbio |
Polymorphism and mutation databases
BioMutai | DAZ3 |
DMDMi | 44887842 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000081556 | 1 – 486 | Deleted in azoospermia protein 3Add BLAST | 486 |
Proteomic databases
PeptideAtlasi | Q9NR90 |
PRIDEi | Q9NR90 |
ProteomicsDBi | 82306 [Q9NR90-1] 82307 [Q9NR90-2] |
PTM databases
iPTMneti | Q9NR90 |
PhosphoSitePlusi | Q9NR90 |
Expressioni
Tissue specificityi
Testis specific.1 Publication
Gene expression databases
Bgeei | ENSG00000187191, Expressed in fundus of stomach and 6 other tissues |
ExpressionAtlasi | Q9NR90, baseline |
Genevisiblei | Q9NR90, HS |
Organism-specific databases
HPAi | ENSG00000187191, Tissue enhanced (stomach, testis) |
Interactioni
Subunit structurei
Forms a heterodimer with BOLL and DAZL.
Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
4 PublicationsMiscellaneous databases
RNActi | Q9NR90, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 40 – 115 | RRMPROSITE-ProRule annotationAdd BLAST | 76 | |
Domaini | 167 – 190 | DAZ 1PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 191 – 214 | DAZ 2PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 215 – 238 | DAZ 3PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 239 – 262 | DAZ 4PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 263 – 286 | DAZ 5PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 287 – 310 | DAZ 6PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 311 – 334 | DAZ 7PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 335 – 358 | DAZ 8PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 359 – 382 | DAZ 9PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 383 – 406 | DAZ 10PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 407 – 430 | DAZ 11PROSITE-ProRule annotationAdd BLAST | 24 | |
Domaini | 431 – 454 | DAZ 12PROSITE-ProRule annotationAdd BLAST | 24 |
Domaini
The DAZ domains are essential and mediate the interaction with DAZAP1 and DAZAP2.
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
GeneTreei | ENSGT00530000063480 |
InParanoidi | Q9NR90 |
OMAi | YQFPAYP |
OrthoDBi | 1610446at2759 |
TreeFami | TF324396 |
Family and domain databases
CDDi | cd12672, RRM_DAZL, 1 hit |
Gene3Di | 3.30.70.330, 1 hit |
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, 8 hits PTHR11176:SF8, PTHR11176:SF8, 8 hits |
Pfami | View protein in Pfam PF18872, Daz, 12 hits PF00076, RRM_1, 1 hit |
SMARTi | View protein in SMART SM00360, RRM, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS51890, DAZ, 12 hits PS50102, RRM, 1 hit |
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: Q9NR90-1) [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 VTQHVQAYSA YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF
210 220 230 240 250
QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV
260 270 280 290 300
ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT
310 320 330 340 350
GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPFQVATGY
360 370 380 390 400
QFPVYNYQAF PAYPNSPVQV TTGYQLPVYN YQAFPAYPNS PFQVATGYQF
410 420 430 440 450
PVYNYQAFPA YPNSPVQVTT GYQLPVYNYQ AFPAYPNSAV QVTTGYQFHV
460 470 480
YNYQMPPQCP VGEQRRNLWT EAYKWWYLVC LIQRRD
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7ETR3 | E7ETR3_HUMAN | Deleted in azoospermia protein 3 | DAZ3 | 366 | Annotation score: | ||
E7ERQ6 | E7ERQ6_HUMAN | Deleted in azoospermia protein 3 | DAZ3 | 390 | Annotation score: |
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_040218 | 222 – 269 | Missing in isoform 2. 1 PublicationAdd BLAST | 48 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF248481 mRNA Translation: AAF91330.1 AC006338 Genomic DNA No translation available. BC113005 mRNA Translation: AAI13006.1 |
CCDSi | CCDS35489.1 [Q9NR90-2] |
RefSeqi | NP_065097.2, NM_020364.3 [Q9NR90-2] |
Genome annotation databases
Ensembli | ENST00000382365; ENSP00000371802; ENSG00000187191 [Q9NR90-2] |
GeneIDi | 57054 |
KEGGi | hsa:57054 |
UCSCi | uc004fwk.4, human [Q9NR90-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF248481 mRNA Translation: AAF91330.1 AC006338 Genomic DNA No translation available. BC113005 mRNA Translation: AAI13006.1 |
CCDSi | CCDS35489.1 [Q9NR90-2] |
RefSeqi | NP_065097.2, NM_020364.3 [Q9NR90-2] |
3D structure databases
SMRi | Q9NR90 |
ModBasei | Search... |
PTM databases
iPTMneti | Q9NR90 |
PhosphoSitePlusi | Q9NR90 |
Polymorphism and mutation databases
BioMutai | DAZ3 |
DMDMi | 44887842 |
Proteomic databases
PeptideAtlasi | Q9NR90 |
PRIDEi | Q9NR90 |
ProteomicsDBi | 82306 [Q9NR90-1] 82307 [Q9NR90-2] |
Protocols and materials databases
Antibodypediai | 21898, 66 antibodies |
Genome annotation databases
Ensembli | ENST00000382365; ENSP00000371802; ENSG00000187191 [Q9NR90-2] |
GeneIDi | 57054 |
KEGGi | hsa:57054 |
UCSCi | uc004fwk.4, human [Q9NR90-1] |
Organism-specific databases
CTDi | 57054 |
DisGeNETi | 57054 |
EuPathDBi | HostDB:ENSG00000187191.14 |
GeneCardsi | DAZ3 |
GeneReviewsi | DAZ3 |
HGNCi | HGNC:15965, DAZ3 |
HPAi | ENSG00000187191, Tissue enhanced (stomach, testis) |
MalaCardsi | DAZ3 |
MIMi | 400027, gene 415000, phenotype |
neXtProti | NX_Q9NR90 |
OpenTargetsi | ENSG00000187191 |
Orphaneti | 1646, Partial chromosome Y deletion |
PharmGKBi | PA27151 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00530000063480 |
InParanoidi | Q9NR90 |
OMAi | YQFPAYP |
OrthoDBi | 1610446at2759 |
TreeFami | TF324396 |
Enzyme and pathway databases
PathwayCommonsi | Q9NR90 |
Miscellaneous databases
BioGRID-ORCSi | 57054, 4 hits in 65 CRISPR screens |
ChiTaRSi | DAZ3, human |
GeneWikii | DAZ3 |
GenomeRNAii | 57054 |
Pharosi | Q9NR90, Tbio |
PROi | PR:Q9NR90 |
RNActi | Q9NR90, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000187191, Expressed in fundus of stomach and 6 other tissues |
ExpressionAtlasi | Q9NR90, baseline |
Genevisiblei | Q9NR90, HS |
Family and domain databases
CDDi | cd12672, RRM_DAZL, 1 hit |
Gene3Di | 3.30.70.330, 1 hit |
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, 8 hits PTHR11176:SF8, PTHR11176:SF8, 8 hits |
Pfami | View protein in Pfam PF18872, Daz, 12 hits PF00076, RRM_1, 1 hit |
SMARTi | View protein in SMART SM00360, RRM, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS51890, DAZ, 12 hits PS50102, RRM, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DAZ3_HUMAN | |
Accessioni | Q9NR90Primary (citable) accession number: Q9NR90 Secondary accession number(s): Q2KHN7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2004 |
Last sequence update: | October 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 155 of the entry and version 1 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