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Protein

Deleted in azoospermia protein 3

Gene

DAZ3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Spermatogenesis

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

EuPathDBiHostDB:ENSG00000187191.14
HGNCiHGNC:15965 DAZ3
MIMi400027 gene
neXtProtiNX_Q9NR90

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
GeneReviewsiDAZ3
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
ProteomicsDBi82306
82307 [Q9NR90-2]

PTM databases

iPTMnetiQ9NR90
PhosphoSitePlusiQ9NR90

Expressioni

Tissue specificityi

Testis specific.1 Publication

Gene expression databases

BgeeiENSG00000187191
ExpressionAtlasiQ9NR90 baseline and 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

Keywords - Domaini

Repeat

Phylogenomic databases

GeneTreeiENSGT00530000063480
HOGENOMiHOG000112149
HOVERGENiHBG048860
InParanoidiQ9NR90
OrthoDBiEOG091G02CS
TreeFamiTF324396

Family and domain databases

CDDicd12672 RRM_DAZL, 1 hit
Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR037366 BOULE/DAZ
IPR034778 DAZ1-4
IPR037551 DAZ_RRM_vert
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PANTHERiPTHR11176 PTHR11176, 3 hits
PTHR11176:SF8 PTHR11176:SF8, 3 hits
PfamiView protein in Pfam
PF00076 RRM_1, 1 hit
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiDAZ3_HUMAN
AccessioniPrimary (citable) accession number: Q9NR90
Secondary accession number(s): Q2KHN7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 140 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

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