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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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 in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts By similarity.
Subunit structure	Homodimer and heterodimer. Multiple DAZL RRMs can bind to a single RNA containing multiple GUU triplets By similarity. Forms a heterodimer with DAZ. Interacts with BOLL, DAZAP1 and DAZAP2. Interacts with PUM2. Ref.10 Ref.11 Ref.12
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.10
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	Alternative splicing Polymorphism
Ligand	RNA-binding
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	germ cell development Traceable author statement PubMed 9288969. Source: ProtInc multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of translational initiation Inferred from direct assay PubMed 16001084. Source: UniProtKB spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Traceable author statement PubMed 9288969. Source: ProtInc nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	RNA binding Traceable author statement Ref.2. Source: ProtInc nucleotide binding Inferred from electronic annotation. Source: InterPro translation activator activity Inferred from direct assay PubMed 16001084. Source: UniProtKB
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q92904-1)

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: Q92904-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAAPSCGGDRKARLTPSLPHE

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
Amino acid modifications
	Modified residue	276	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	1	1	M → MAAPSCGGDRKARLTPSLPH E in isoform 2.		VSP_043208
	Natural variant	12	1	T → A Common polymorphism. Ref.13 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.13		VAR_017781
	Natural variant	115	1	R → G Severely impaired RNA-binding. Ref.14		VAR_069231
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)
	Isoform 1 [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
	Isoform 2 [UniParc]. Checksum: F4380E654EFB350D	FASTA	315	35,224
	10 20 30 40 50 60 MAAPSCGGDR KARLTPSLPH ESTANPETPN STISREASTQ SSSAATSQGY ILPEGKIMPN 70 80 90 100 110 120 TVFVGGIDVR MDETEIRSFF ARYGSVKEVK IITDRTGVSK GYGFVSFFND VDVQKIVESQ 130 140 150 160 170 180 INFHGKKLKL GPAIRKQNLC AYHVQPRPLV FNHPPPPQFQ NVWTNPNTET YMQPTTTMNP 190 200 210 220 230 240 ITQYVQAYPT YPNSPVQVIT GYQLPVYNYQ MPPQWPVGEQ RSYVVPPAYS AVNYHCNEVD 250 260 270 280 290 300 PGAEVVPNEC SVHEATPPSG NGPQKKSVDR SIQTVVSCLF NPENRLRNSV VTQDDYFKDK 310 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[7]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"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 1). Tissue: Testis.
[10]	"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: DOMAIN, INTERACTION WITH DAZAP1 AND DAZAP2. Tissue: Testis.
[11]	"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.
[12]	"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.
[13]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS ALA-12 AND ALA-54.
[14]	"Kinked beta-strands mediate high-affinity recognition of mRNA targets by the germ-cell regulator DAZL." Jenkins H.T., Malkova B., Edwards T.A. Proc. Natl. Acad. Sci. U.S.A. 108:18266-18271(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLY-115.
+	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. AK303026 mRNA. Translation: BAG64152.1. BX648638 mRNA. Translation: CAI45996.1. AC010139 Genomic DNA. No translation available. CH471055 Genomic DNA. Translation: EAW64279.1. BC027595 mRNA. Translation: AAH27595.1.
IPI	IPI00871660.
RefSeq	NP_001177740.1. NM_001190811.1. NP_001342.2. NM_001351.3.
UniGene	Hs.131179.
3D structure databases
ProteinModelPortal	Q92904.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92904. 1 interaction.
STRING	9606.ENSP00000382373.
PTM databases
PhosphoSite	Q92904.
Polymorphism databases
DMDM	27805453.
Proteomic databases
PaxDb	Q92904.
PRIDE	Q92904.
Protocols and materials databases
DNASU	1618.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000250863; ENSP00000250863; ENSG00000092345. ENST00000399444; ENSP00000382373; ENSG00000092345.
GeneID	1618.
KEGG	hsa:1618.
UCSC	uc003cbb.3. human.
Organism-specific databases
CTD	1618.
GeneCards	GC03M016603.
HGNC	HGNC:2685. DAZL.
HPA	HPA019593. HPA019777.
MIM	601486. gene.
neXtProt	NX_Q92904.
PharmGKB	PA27155.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG260394.
HOGENOM	HOG000246400.
HOVERGEN	HBG000573.
OMA	YVIPPAY.
OrthoDB	EOG4T783S.
Gene expression databases
ArrayExpress	Q92904.
Bgee	Q92904.
CleanEx	HS_DAZL.
Genevestigator	Q92904.
GermOnline	ENSG00000092345. Homo sapiens.
Family and domain databases
Gene3D	3.30.70.330. 1 hit.
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. [Graphical view]
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
GenomeRNAi	1618.
NextBio	6646.
SOURCE	Search...

Entry information

Entry name

DAZL_HUMAN

Accession

Primary (citable) accession number: Q92904
Secondary accession number(s): O15396, Q5HYB4, Q92909

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 17, 2003
Last sequence update:	February 1, 1997
Last modified:	May 1, 2013
This is version 119 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.