Q9NR90 (DAZ3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Deleted in azoospermia protein 3

Gene names

Name:

DAZ3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	486 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation.
Subunit structure	Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3. Ref.4 Ref.6 Ref.7 Ref.8
Subcellular location	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. Ref.5
Tissue specificity	Testis specific. Ref.1
Domain	The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
Polymorphism	The number as well as the precise structure of the DAZ proteins probably differs within the population.
Involvement in disease	Defects in DAZ3 may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:415000]. It is a disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility. Ref.10 Ref.11
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.
Sequence similarities	Belongs to the RRM DAZ family. Contains 12 DAZ-like domains. Contains 1 RRM (RNA recognition motif) domain.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat
Ligand	RNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	RNA binding Inferred from electronic annotation. Source: UniProtKB-KW nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NR90-1)

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.

Isoform 2 (identifier: Q9NR90-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 486	486	Deleted in azoospermia protein 3		PRO_0000081556
Regions
	Domain	40 – 115	76	RRM
	Domain	170 – 190	21	DAZ-like 1
	Domain	194 – 214	21	DAZ-like 2
	Domain	218 – 238	21	DAZ-like 3
	Domain	242 – 262	21	DAZ-like 4
	Domain	266 – 286	21	DAZ-like 5
	Domain	290 – 310	21	DAZ-like 6
	Domain	314 – 334	21	DAZ-like 7
	Domain	338 – 358	21	DAZ-like 8
	Domain	362 – 382	21	DAZ-like 9
	Domain	386 – 406	21	DAZ-like 10
	Domain	410 – 430	21	DAZ-like 11
	Domain	434 – 454	21	DAZ-like 12
Natural variations
	Alternative sequence	222 – 269	48	Missing in isoform 2.		VSP_040218

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: AB0FAFC47AA6FC84	FASTA	486	54,989
	10 20 30 40 50 60 MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF 70 80 90 100 110 120 GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 130 140 150 160 170 180 ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT 190 200 210 220 230 240 GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF 250 260 270 280 290 300 PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT 310 320 330 340 350 360 GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPFQVATGY QFPVYNYQAF 370 380 390 400 410 420 PAYPNSPVQV TTGYQLPVYN YQAFPAYPNS PFQVATGYQF PVYNYQAFPA YPNSPVQVTT 430 440 450 460 470 480 GYQLPVYNYQ AFPAYPNSAV QVTTGYQFHV YNYQMPPQCP VGEQRRNLWT EAYKWWYLVC LIQRRD
	Isoform 2 [UniParc]. Checksum: 48CF1E54E673A3C4	FASTA	438	49,520
	10 20 30 40 50 60 MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF 70 80 90 100 110 120 GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 130 140 150 160 170 180 ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT 190 200 210 220 230 240 GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF 250 260 270 280 290 300 PAYPNSPFQV ATGYQFPVYN YQAFPAYPNS PVQVTTGYQL PVYNYQAFPA YPNSPFQVAT 310 320 330 340 350 360 GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPFQVATGY QFPVYNYQAF 370 380 390 400 410 420 PAYPNSPVQV TTGYQLPVYN YQAFPAYPNS AVQVTTGYQF HVYNYQMPPQ CPVGEQRRNL 430 WTEAYKWWYL VCLIQRRD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 10936047] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), GENE STRUCTURE, GENE NOMENCLATURE, TISSUE SPECIFICITY. Tissue: Testis.
[2]	"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes." Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T.A. , Hou S.-F., Latrielle P., Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.-P., Waterston R.H., Wilson R.K., Rozen S., Page D.C. Nature 423:825-837(2003) [PubMed: 12815422] [Abstract] 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[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: 10857750] [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: 11058556] [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: 10903443] [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: 11390979] [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: 12511597] [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: 12752250] [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: 11095434] [Abstract] Cited for: INVOLVEMENT IN SPGFY2.
[11]	"Partial DAZ deletions in a family with five infertile brothers." Gianotten J., Hoffer M.J.V., De Vries J.W.A., Leschot N.J., Gerris J., van der Veen F. Fertil. Steril. 79:1652-1655(2003) [PubMed: 12801575] [Abstract] Cited for: INVOLVEMENT IN SPGFY2.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF248481 mRNA. Translation: AAF91330.1. AC006338 Genomic DNA. No translation available. BC113005 mRNA. Translation: AAI13006.1.
IPI	IPI00006501. IPI00742060.
RefSeq	NP_065097.2. NM_020364.3.
UniGene	Hs.592257. Hs.70936.
3D structure databases
ProteinModelPortal	Q9NR90.
SMR	Q9NR90. Positions 32-117.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NR90.
Polymorphism databases
DMDM	44887842.
Proteomic databases
PRIDE	Q9NR90.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382431; ENSP00000371868; ENSG00000205944.
GeneID	57054.
KEGG	hsa:57054.
UCSC	uc004fvv.1. human.
Organism-specific databases
CTD	57054.
GeneCards	GC0YM026909.
H-InvDB	HIX0093747.
HGNC	HGNC:15965. DAZ3.
MIM	400027. gene. 415000. phenotype.
neXtProt	NX_Q9NR90.
Orphanet	1646. Partial chromosome Y deletion.
PharmGKB	PA27151.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000063480.
HOVERGEN	HBG048860.
Gene expression databases
Bgee	Q9NR90.
Genevestigator	Q9NR90.
GermOnline	ENSG00000205944. Homo sapiens.
Family and domain databases
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. [Graphical view]
Gene3D	G3DSA:3.30.70.330. a_b_plait_nuc_bd. 1 hit.
Pfam	PF00076. RRM_1. 1 hit. [Graphical view]
SMART	SM00360. RRM. 1 hit. [Graphical view]
PROSITE	PS50102. RRM. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	62828.
SOURCE	Search...

Entry information

Entry name

DAZ3_HUMAN

Accession

Primary (citable) accession number: Q9NR90
Secondary accession number(s): Q2KHN7

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
Last sequence update:	October 1, 2000
Last modified:	January 25, 2012
This is version 84 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.