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Protein

Deleted in azoospermia protein 4

Gene

DAZ4

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

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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in azoospermia protein 4
Gene namesi
Name:DAZ4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome Y

Organism-specific databases

EuPathDBiHostDB:ENSG00000205916.11
HGNCiHGNC:15966 DAZ4
MIMi400003 gene
neXtProtiNX_Q86SG3

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

DisGeNETi57135
MalaCardsiDAZ4
MIMi415000 phenotype
OpenTargetsiENSG00000188120
ENSG00000205916
ENSG00000205944
Orphaneti1646 Partial chromosome Y deletion
PharmGKBiPA27152

Polymorphism and mutation databases

BioMutaiDAZ4
DMDMi44887840

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000815571 – 579Deleted in azoospermia protein 4Add BLAST579

Proteomic databases

PaxDbiQ86SG3
PeptideAtlasiQ86SG3
PRIDEiQ86SG3
ProteomicsDBi69582
69583 [Q86SG3-2]

PTM databases

iPTMnetiQ86SG3
PhosphoSitePlusiQ86SG3

Expressioni

Tissue specificityi

Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).3 Publications

Gene expression databases

BgeeiENSG00000205916 Expressed in 12 organ(s), highest expression level in right testis
CleanExiHS_DAZ4
ExpressionAtlasiQ86SG3 baseline
GenevisibleiQ86SG3 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

Protein-protein interaction databases

STRINGi9606.ENSP00000401363

Structurei

3D structure databases

ProteinModelPortaliQ86SG3
SMRiQ86SG3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 115RRM 1PROSITE-ProRule annotationAdd BLAST76
Domaini205 – 280RRM 2PROSITE-ProRule annotationAdd BLAST76
Domaini335 – 355DAZ-like 1Add BLAST21
Domaini359 – 379DAZ-like 2Add BLAST21
Domaini384 – 404DAZ-like 3Add BLAST21
Domaini407 – 427DAZ-like 4Add BLAST21
Domaini431 – 451DAZ-like 5Add BLAST21
Domaini455 – 475DAZ-like 6Add BLAST21
Domaini479 – 499DAZ-like 7Add BLAST21
Domaini503 – 523DAZ-like 8Add BLAST21
Domaini527 – 547DAZ-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
HOVERGENiHBG048860
InParanoidiQ86SG3
TreeFamiTF324396

Family and domain databases

CDDicd12672 RRM_DAZL, 2 hits
Gene3Di3.30.70.330, 2 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, 2 hits
PTHR11176:SF8 PTHR11176:SF8, 2 hits
PfamiView protein in Pfam
PF00076 RRM_1, 2 hits
SMARTiView protein in SMART
SM00360 RRM, 2 hits
SUPFAMiSSF54928 SSF54928, 2 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q86SG3-1) [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 QAYSAYPHSP GQVITGCQLL
360 370 380 390 400
VYNYQEYPTY PDSAFQVTTG YQLPVYNYQP FPAYPRSPFQ VTAGYQLPVY
410 420 430 440 450
NYQAFPAYPN SPFQVATGYQ FPVYNYQPFP AYPSSPFQVT AGYQLPVYNY
460 470 480 490 500
QAFPAYPNSP FQVATGYQFP VYNYQAFPAY PNSPVQVTTG YQLPVYNYQA
510 520 530 540 550
FPAYPSSPFQ VTTGYQLPVY NYQAFPAYPN SAVQVTTGYQ FHVYNYQMPP
560 570
QCPVGEQRRN LWTEAYKWWY LVCLIQRRD
Length:579
Mass (Da):64,785
Last modified:March 1, 2004 - v2
Checksum:iBE0537C8DD4E9174
GO
Isoform 2 (identifier: Q86SG3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-165: Missing.
     166-166: Q → M
     486-509: Missing.

Show »
Length:390
Mass (Da):44,085
Checksum:iA9567AFD5659A9D5
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q13117DAZ2_HUMAN
Deleted in azoospermia protein 2
DAZ2
558Annotation score:
E7EU39E7EU39_HUMAN
Deleted in azoospermia protein 2
DAZ4 DAZ2
366Annotation score:
E9PBY2E9PBY2_HUMAN
Deleted in azoospermia protein 2
DAZ2
654Annotation score:
E7ENA6E7ENA6_HUMAN
Deleted in azoospermia protein 2
DAZ2
438Annotation score:
E7EU38E7EU38_HUMAN
Deleted in azoospermia protein 4
DAZ4
651Annotation score:
E7ENA5E7ENA5_HUMAN
Deleted in azoospermia protein 4
DAZ4
558Annotation score:
A0A0A0MSS9A0A0A0MSS9_HUMAN
Deleted in azoospermia protein 4
DAZ4
486Annotation score:
I3L0B6I3L0B6_HUMAN
Deleted in azoospermia protein 2
DAZ2
486Annotation score:
A0A140T8Y1A0A140T8Y1_HUMAN
Deleted in azoospermia protein 4
DAZ4
603Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti238T → S in AAF91332 (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_0094541 – 165Missing in isoform 2. 1 PublicationAdd BLAST165
Alternative sequenceiVSP_009455166Q → M in isoform 2. 1 Publication1
Alternative sequenceiVSP_009456486 – 509Missing in isoform 2. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF248482 mRNA Translation: AAF91331.1
AF248483 mRNA Translation: AAF91332.1
AC006338 Genomic DNA No translation available.
BC047480 mRNA Translation: AAH47480.1
BC047617 mRNA Translation: AAH47617.1
CCDSiCCDS55557.1 [Q86SG3-2]
RefSeqiNP_001005375.1, NM_001005375.2 [Q86SG3-1]
NP_065153.1, NM_020420.3 [Q86SG3-2]
UniGeneiHs.522868
Hs.70936

Genome annotation databases

EnsembliENST00000449750; ENSP00000389300; ENSG00000205916 [Q86SG3-2]
ENST00000634662; ENSP00000489430; ENSG00000205916 [Q86SG3-1]
GeneIDi57135
KEGGihsa:57135
UCSCiuc065cvv.1 human [Q86SG3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDAZ4_HUMAN
AccessioniPrimary (citable) accession number: Q86SG3
Secondary accession number(s): Q9NR88, Q9NR89
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: September 12, 2018
This is version 142 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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