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Protein

Deleted in azoospermia protein 3

Gene

DAZ3

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.

GO - Molecular functioni

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:G66-30890-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in azoospermia protein 3
Gene namesi
Name:DAZ3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome Y

Organism-specific databases

HGNCiHGNC:15965. DAZ3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & 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.
See also OMIM:415000

Organism-specific databases

DisGeNETi57054.
MalaCardsiDAZ3.
MIMi415000. phenotype.
OpenTargetsiENSG00000187191.
Orphaneti1646. Partial chromosome Y deletion.
PharmGKBiPA27151.

Polymorphism and mutation databases

BioMutaiDAZ3.
DMDMi44887842.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000815561 – 486Deleted in azoospermia protein 3Add BLAST486

Proteomic databases

PeptideAtlasiQ9NR90.
PRIDEiQ9NR90.

PTM databases

iPTMnetiQ9NR90.
PhosphoSitePlusiQ9NR90.

Expressioni

Tissue specificityi

Testis specific.1 Publication

Gene expression databases

BgeeiENSG00000187191.
ExpressionAtlasiQ9NR90. differential.
GenevisibleiQ9NR90. 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

Structurei

3D structure databases

ProteinModelPortaliQ9NR90.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 115RRMPROSITE-ProRule annotationAdd BLAST76
Domaini170 – 190DAZ-like 1Add BLAST21
Domaini194 – 214DAZ-like 2Add BLAST21
Domaini218 – 238DAZ-like 3Add BLAST21
Domaini242 – 262DAZ-like 4Add BLAST21
Domaini266 – 286DAZ-like 5Add BLAST21
Domaini290 – 310DAZ-like 6Add BLAST21
Domaini314 – 334DAZ-like 7Add BLAST21
Domaini338 – 358DAZ-like 8Add BLAST21
Domaini362 – 382DAZ-like 9Add BLAST21
Domaini386 – 406DAZ-like 10Add BLAST21
Domaini410 – 430DAZ-like 11Add BLAST21
Domaini434 – 454DAZ-like 12Add 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 12 DAZ-like domains.Curated
Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

GeneTreeiENSGT00530000063480.
HOGENOMiHOG000112149.
HOVERGENiHBG048860.
InParanoidiQ9NR90.
OrthoDBiEOG091G02CS.
TreeFamiTF324396.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 1 hit.
[Graphical view]
SMARTiSM00360. RRM. 1 hit.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiPS50102. RRM. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NR90-1) [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 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
Length:486
Mass (Da):54,989
Last modified:October 1, 2000 - v1
Checksum:iAB0FAFC47AA6FC84
GO
Isoform 2 (identifier: Q9NR90-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     222-269: Missing.

Show »
Length:438
Mass (Da):49,520
Checksum:i48CF1E54E673A3C4
GO

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_040218222 – 269Missing in isoform 2. 1 PublicationAdd BLAST48

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.
CCDSiCCDS35489.1. [Q9NR90-2]
RefSeqiNP_065097.2. NM_020364.3. [Q9NR90-2]
UniGeneiHs.592257.
Hs.70936.

Genome annotation databases

EnsembliENST00000382365; ENSP00000371802; ENSG00000187191. [Q9NR90-2]
GeneIDi57054.
KEGGihsa:57054.
UCSCiuc004fwk.4. human. [Q9NR90-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS35489.1. [Q9NR90-2]
RefSeqiNP_065097.2. NM_020364.3. [Q9NR90-2]
UniGeneiHs.592257.
Hs.70936.

3D structure databases

ProteinModelPortaliQ9NR90.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ9NR90.
PhosphoSitePlusiQ9NR90.

Polymorphism and mutation databases

BioMutaiDAZ3.
DMDMi44887842.

Proteomic databases

PeptideAtlasiQ9NR90.
PRIDEiQ9NR90.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382365; ENSP00000371802; ENSG00000187191. [Q9NR90-2]
GeneIDi57054.
KEGGihsa:57054.
UCSCiuc004fwk.4. human. [Q9NR90-1]

Organism-specific databases

CTDi57054.
DisGeNETi57054.
GeneCardsiDAZ3.
GeneReviewsiDAZ3.
H-InvDBHIX0093747.
HGNCiHGNC:15965. DAZ3.
HPAiHPA047113.
MalaCardsiDAZ3.
MIMi400027. gene.
415000. phenotype.
neXtProtiNX_Q9NR90.
OpenTargetsiENSG00000187191.
Orphaneti1646. Partial chromosome Y deletion.
PharmGKBiPA27151.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00530000063480.
HOGENOMiHOG000112149.
HOVERGENiHBG048860.
InParanoidiQ9NR90.
OrthoDBiEOG091G02CS.
TreeFamiTF324396.

Enzyme and pathway databases

BioCyciZFISH:G66-30890-MONOMER.

Miscellaneous databases

GeneWikiiDAZ3.
GenomeRNAii57054.
PROiQ9NR90.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187191.
ExpressionAtlasiQ9NR90. differential.
GenevisibleiQ9NR90. HS.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 1 hit.
[Graphical view]
SMARTiSM00360. RRM. 1 hit.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiPS50102. RRM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDAZ3_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 125 of the entry and version 1 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

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.