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Protein

Deleted in azoospermia protein 1

Gene

DAZ1

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. 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.

Caution

GO - Molecular functioni

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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Spermatogenesis

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

EuPathDBiHostDB:ENSG00000188120.14
HGNCiHGNC:2682 DAZ1
MIMi400003 gene
neXtProtiNX_Q9NQZ3

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)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
GeneReviewsiDAZ1
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 baseline
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

BioGridi10798610 interactors.
IntActiQ9NQZ3 8 interactors.
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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0118 Eukaryota
COG0724 LUCA
GeneTreeiENSGT00530000063480
HOGENOMiHOG000207950
HOVERGENiHBG048860
InParanoidiQ9NQZ3
OrthoDBiEOG091G02CS
PhylomeDBiQ9NQZ3
TreeFamiTF324396

Family and domain databases

CDDicd12672 RRM_DAZL, 3 hits
Gene3Di3.30.70.3303 hits
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, 3 hits
SMARTiView protein in SMART
SM00360 RRM, 3 hits
SUPFAMiSSF54928 SSF54928, 3 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 3 hits

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

Similar proteinsi

Entry informationi

Entry nameiDAZ1_HUMAN
AccessioniPrimary (citable) accession number: Q9NQZ3
Secondary accession number(s): Q1RMF9, Q9NQZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: April 25, 2018
This is version 154 of the entry and version 2 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