Q92904 (DAZL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Deleted in azoospermia-like

Alternative name(s):
DAZ homolog
DAZ-like autosomal
Deleted in azoospermia-like 1
SPGY-like-autosomal

Gene names

Name:	DAZL
Synonyms:	DAZH, DAZL1, DAZLA, SPGYLA

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	295 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	RNA-binding protein, which is essential for gametogenesis. Plays a central role during spermatogenesis. May act by binding to the 3'-UTR of mRNA and thereby regulating the translation of key transcripts By similarity.
Subunit structure	Homodimer and heterodimer By similarity. Forms a heterodimer with DAZ. Interacts with BOLL, DAZAP1 and DAZAP2. Interacts with PUM2. Ref.6 Ref.7 Ref.8
Subcellular location	Cytoplasm By similarity. Nucleus By similarity. Note: Predominantly cytoplasmic By similarity. Nuclear in spermatogonia until near the end of the meiotic prophase and cytoplasmic localization from then onward By similarity.
Tissue specificity	Testis specific. Ref.1 Ref.2 Ref.3
Domain	The DAZ-like domain mediates the interaction with DAZAP1 and DAZAP2. Ref.6
Sequence similarities	Belongs to the RRM DAZ family. Contains 1 DAZ-like domain. Contains 1 RRM (RNA recognition motif) domain.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis Translation regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Ligand	RNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	germ cell development Traceable author statement. Source: ProtInc multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of translational initiation Inferred from direct assay. Source: UniProtKB spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Traceable author statement. Source: ProtInc nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	RNA binding Traceable author statement. Source: ProtInc nucleotide binding Inferred from electronic annotation. Source: InterPro protein binding Inferred from physical interaction. Source: UniProtKB translation activator activity Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 295	295	Deleted in azoospermia-like		PRO_0000081559
Regions
	Domain	40 – 115	76	RRM
	Domain	167 – 190	24	DAZ-like
	Region	80 – 132	53	Homodimerization By similarity
Natural variations
	Natural variant	12	1	T → A Common polymorphism. Ref.9 Corresponds to variant rs11710967 [ dbSNP | Ensembl ].		VAR_017780
	Natural variant	54	1	T → A May be associated with susceptibility to spermatogenic failure in Asian individuals; this substitution may lead to affect the DAZL transcript stability and prevent its translation. Ref.9		VAR_017781
Experimental info
	Sequence conflict	3	1	T → I in AAB63596. Ref.3
	Sequence conflict	253	1	Q → R in AAB84361. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q92904 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: 21B360739B35B95F	FASTA	295	33,178
	10 20 30 40 50 60 MSTANPETPN STISREASTQ SSSAATSQGY ILPEGKIMPN TVFVGGIDVR MDETEIRSFF 70 80 90 100 110 120 ARYGSVKEVK IITDRTGVSK GYGFVSFFND VDVQKIVESQ INFHGKKLKL GPAIRKQNLC 130 140 150 160 170 180 AYHVQPRPLV FNHPPPPQFQ NVWTNPNTET YMQPTTTMNP ITQYVQAYPT YPNSPVQVIT 190 200 210 220 230 240 GYQLPVYNYQ MPPQWPVGEQ RSYVVPPAYS AVNYHCNEVD PGAEVVPNEC SVHEATPPSG 250 260 270 280 290 NGPQKKSVDR SIQTVVSCLF NPENRLRNSV VTQDDYFKDK RVHHFRRSRA MLKSV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned." Saxena R., Brown L.G., Hawkins T., Alagappan R.K., Skaletsky H., Reeve M.P., Reijo R.A., Rozen S., Dinulos M.B., Disteche C.M., Page D.C. Nat. Genet. 14:292-299(1996) [PubMed: 8896558] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Testis.
[2]	"A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad." Shan Z., Hirschmann P., Seebacher T., Edelmann A., Jauch A., Morell J., Urbitsch P., Vogt P.H. Hum. Mol. Genet. 5:2005-2011(1996) [PubMed: 8968755] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Testis.
[3]	"The human autosomal gene DAZLA: testis specificity and a candidate for male infertility." Yen P.H., Chai N.-N., Salido E.C. Hum. Mol. Genet. 5:2013-2017(1996) [PubMed: 8968756] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Testis.
[4]	"A putative human male infertility gene DAZLA: genomic structure and methylation status." Chai N.-N., Phillips A., Fernandez A., Yen P.H. Mol. Hum. Reprod. 3:705-708(1997) [PubMed: 9294855] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"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]. Tissue: Testis.
[6]	"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: DOMAIN, INTERACTION WITH DAZAP1 AND DAZAP2. Tissue: Testis.
[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.
[9]	"Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure." Teng Y.-N., Lin Y.-M., Lin Y.-H., Tsao S.-Y., Hsu C.-C., Lin S.-J., Tsai W.-C., Kuo P.-L. J. Clin. Endocrinol. Metab. 87:5258-5264(2002) [PubMed: 12414900] [Abstract] Cited for: VARIANTS ALA-12 AND ALA-54.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U65918 mRNA. Translation: AAC50813.1. U66726 mRNA. Translation: AAB39935.1. U66078 mRNA. Translation: AAB63596.1. U77476 , U77467, U77468, U77469, U77470, U77471, U77472, U77473, U77474, U77475 Genomic DNA. Translation: AAB84361.1. BC027595 mRNA. Translation: AAH27595.1.
IPI	IPI00871660.
RefSeq	NP_001342.2. NM_001351.3.
UniGene	Hs.131179.
3D structure databases
ProteinModelPortal	Q92904.
SMR	Q92904. Positions 32-117.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92904. 1 interaction.
STRING	Q92904.
PTM databases
PhosphoSite	Q92904.
Polymorphism databases
DMDM	27805453.
Proteomic databases
PRIDE	Q92904.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000399444; ENSP00000382373; ENSG00000092345.
GeneID	1618.
KEGG	hsa:1618.
UCSC	uc003cbb.1. human.
Organism-specific databases
CTD	1618.
GeneCards	GC03M016603.
H-InvDB	HIX0003114.
HGNC	HGNC:2685. DAZL.
HPA	HPA019593. HPA019777.
MIM	601486. gene.
neXtProt	NX_Q92904.
PharmGKB	PA27155.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000063480.
HOVERGEN	HBG000573.
OrthoDB	EOG4T783S.
Gene expression databases
ArrayExpress	Q92904.
Bgee	Q92904.
CleanEx	HS_DAZL.
Genevestigator	Q92904.
GermOnline	ENSG00000092345. 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	6646.
SOURCE	Search...

Entry information

Entry name

DAZL_HUMAN

Accession

Primary (citable) accession number: Q92904
Secondary accession number(s): O15396, Q92909

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 17, 2003
Last sequence update:	February 1, 1997
Last modified:	January 25, 2012
This is version 106 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.