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Q86SG3

- DAZ4_HUMAN

UniProt

Q86SG3 - DAZ4_HUMAN

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Protein
Deleted in azoospermia protein 4
Gene
DAZ4
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. RNA binding Source: UniProtKB-KW
  2. nucleotide binding Source: InterPro

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. multicellular organismal development Source: UniProtKB-KW
  3. spermatogenesis Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis

Keywords - Ligandi

RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in azoospermia protein 4
Gene namesi
Name:DAZ4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome Y

Organism-specific databases

HGNCiHGNC:15966. DAZ4.

Subcellular locationi

Cytoplasm. Nucleus
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.1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
Note: 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.2 Publications

Organism-specific databases

MIMi415000. phenotype.
Orphaneti1646. Partial chromosome Y deletion.
PharmGKBiPA27152.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 579579Deleted in azoospermia protein 4
PRO_0000081557Add
BLAST

Proteomic databases

PRIDEiQ86SG3.

PTM databases

PhosphoSiteiQ86SG3.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ86SG3.
CleanExiHS_DAZ4.
GenevestigatoriQ86SG3.

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

BioGridi121396. 1 interaction.
STRINGi9606.ENSP00000371742.

Structurei

3D structure databases

ProteinModelPortaliQ86SG3.
SMRiQ86SG3. Positions 32-117, 142-286.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini40 – 11576RRM 1
Add
BLAST
Domaini205 – 28076RRM 2
Add
BLAST
Domaini335 – 35521DAZ-like 1
Add
BLAST
Domaini359 – 37921DAZ-like 2
Add
BLAST
Domaini384 – 40421DAZ-like 3
Add
BLAST
Domaini407 – 42721DAZ-like 4
Add
BLAST
Domaini431 – 45121DAZ-like 5
Add
BLAST
Domaini455 – 47521DAZ-like 6
Add
BLAST
Domaini479 – 49921DAZ-like 7
Add
BLAST
Domaini503 – 52321DAZ-like 8
Add
BLAST
Domaini527 – 54721DAZ-like 9
Add
BLAST

Domaini

The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.

Sequence similaritiesi

Belongs to the RRM DAZ family.
Contains 9 DAZ-like domains.

Keywords - Domaini

Repeat

Phylogenomic databases

HOVERGENiHBG048860.
InParanoidiQ86SG3.
OrthoDBiEOG7BGHN4.
TreeFamiTF324396.

Family and domain databases

Gene3Di3.30.70.330. 3 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 2 hits.
[Graphical view]
SMARTiSM00360. RRM. 2 hits.
[Graphical view]
PROSITEiPS50102. RRM. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR    50
MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ 100
IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET 150
YLQPQITPNP VTQHVQSAAN PETPNSTISR EASTQSSSAA ASQGWVLPEG 200
KIVPNTVFVG GIDARMDETE IGSCFGRYGS VKEVKIITNR TGVSKGYGFV 250
SFVNDVDVQK IVGSQIHFHG KKLKLGPAIR KQKLCARHVQ PRPLVVNPPP 300
PPQFQNVWRN PNTETYLQPQ ITPNPVTQHV QAYSAYPHSP GQVITGCQLL 350
VYNYQEYPTY PDSAFQVTTG YQLPVYNYQP FPAYPRSPFQ VTAGYQLPVY 400
NYQAFPAYPN SPFQVATGYQ FPVYNYQPFP AYPSSPFQVT AGYQLPVYNY 450
QAFPAYPNSP FQVATGYQFP VYNYQAFPAY PNSPVQVTTG YQLPVYNYQA 500
FPAYPSSPFQ VTTGYQLPVY NYQAFPAYPN SAVQVTTGYQ FHVYNYQMPP 550
QCPVGEQRRN LWTEAYKWWY LVCLIQRRD 579
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

Polymorphismi

The number as well as the precise structure of the DAZ proteins probably differs within the population.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 165165Missing in isoform 2.
VSP_009454Add
BLAST
Alternative sequencei166 – 1661Q → M in isoform 2.
VSP_009455
Alternative sequencei486 – 50924Missing in isoform 2.
VSP_009456Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti238 – 2381T → S in AAF91332. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS55556.1. [Q86SG3-1]
CCDS55557.1. [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

EnsembliENST00000382314; ENSP00000371751; ENSG00000205916. [Q86SG3-2]
ENST00000440066; ENSP00000401363; ENSG00000205916. [Q86SG3-1]
ENST00000449750; ENSP00000389300; ENSG00000205916. [Q86SG3-2]
GeneIDi57135.
KEGGihsa:57135.
UCSCiuc004fvm.3. human. [Q86SG3-1]
uc004fvn.3. human. [Q86SG3-2]

Polymorphism databases

DMDMi44887840.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS55556.1. [Q86SG3-1 ]
CCDS55557.1. [Q86SG3-2 ]
RefSeqi NP_001005375.1. NM_001005375.2. [Q86SG3-1 ]
NP_065153.1. NM_020420.3. [Q86SG3-2 ]
UniGenei Hs.522868.
Hs.70936.

3D structure databases

ProteinModelPortali Q86SG3.
SMRi Q86SG3. Positions 32-117, 142-286.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121396. 1 interaction.
STRINGi 9606.ENSP00000371742.

PTM databases

PhosphoSitei Q86SG3.

Polymorphism databases

DMDMi 44887840.

Proteomic databases

PRIDEi Q86SG3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382314 ; ENSP00000371751 ; ENSG00000205916 . [Q86SG3-2 ]
ENST00000440066 ; ENSP00000401363 ; ENSG00000205916 . [Q86SG3-1 ]
ENST00000449750 ; ENSP00000389300 ; ENSG00000205916 . [Q86SG3-2 ]
GeneIDi 57135.
KEGGi hsa:57135.
UCSCi uc004fvm.3. human. [Q86SG3-1 ]
uc004fvn.3. human. [Q86SG3-2 ]

Organism-specific databases

CTDi 57135.
GeneCardsi GC0YP026979.
HGNCi HGNC:15966. DAZ4.
HPAi HPA047113.
MIMi 400003. gene.
415000. phenotype.
neXtProti NX_Q86SG3.
Orphaneti 1646. Partial chromosome Y deletion.
PharmGKBi PA27152.
GenAtlasi Search...

Phylogenomic databases

HOVERGENi HBG048860.
InParanoidi Q86SG3.
OrthoDBi EOG7BGHN4.
TreeFami TF324396.

Miscellaneous databases

ChiTaRSi DAZ4. human.
NextBioi 63055.
PROi Q86SG3.
SOURCEi Search...

Gene expression databases

Bgeei Q86SG3.
CleanExi HS_DAZ4.
Genevestigatori Q86SG3.

Family and domain databases

Gene3Di 3.30.70.330. 3 hits.
InterProi IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view ]
Pfami PF00076. RRM_1. 2 hits.
[Graphical view ]
SMARTi SM00360. RRM. 2 hits.
[Graphical view ]
PROSITEi PS50102. RRM. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome."
    Saxena R., de Vries J.W.A., Repping S., Alagappan R.K., Skaletsky H., Brown L.G., Ma P., Chen E., Hoovers J.M.N., Page D.C.
    Genomics 67:256-267(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), GENE STRUCTURE, GENE NOMENCLATURE, TISSUE SPECIFICITY.
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  4. "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1."
    Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., Yen P.H.
    Genomics 65:266-273(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DAZAP1 AND DAZAP2.
  5. "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice."
    Reijo R.A., Dorfman D.M., Slee R., Renshaw A.A., Loughlin K.R., Cooke H., Page D.C.
    Biol. Reprod. 63:1490-1496(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  6. "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein."
    Ruggiu M., Cooke H.J.
    Gene 252:119-126(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DAZL.
  7. "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans."
    Xu E.Y., Moore F.L., Reijo Pera R.A.
    Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH BOLL.
  8. "Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins."
    Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J., Dorfman D.M., Reijo Pera R.A.
    Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PUM2; DZIP1 AND DZIP3.
  9. "Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis?"
    Vogt P.H., Fernandes S.
    APMIS 111:115-127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  10. "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome."
    Moro E., Ferlin A., Yen P.H., Franchi P.G., Palka G., Foresta C.
    J. Clin. Endocrinol. Metab. 85:4069-4073(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SPGFY2.
  11. Cited for: INVOLVEMENT IN SPGFY2.
  12. "Copy number of DAZ genes in infertile men."
    Writzl K., Zorn B., Peterlin B.
    Fertil. Steril. 84:1522-1525(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENE DUPLICATION.
  13. "Restricted expression of the human DAZ protein in premeiotic germ cells."
    Huang W.J., Lin Y.W., Hsiao K.N., Eilber K.S., Salido E.C., Yen P.H.
    Hum. Reprod. 23:1280-1289(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  14. "Polymorphic expression of DAZ proteins in the human testis."
    Kim B., Lee Y., Kim Y., Lee K.H., Chun S., Rhee K., Seo J.T., Kim S.W., Paick J.S.
    Hum. Reprod. 24:1507-1515(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiDAZ4_HUMAN
AccessioniPrimary (citable) accession number: Q86SG3
Secondary accession number(s): Q9NR88, Q9NR89
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: September 3, 2014
This is version 105 of the entry and version 2 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

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.

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

External Data

Dasty 3

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