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Q92904 (DAZL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length295 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 295295Deleted in azoospermia-like
PRO_0000081559

Regions

Domain40 – 11576RRM
Domain167 – 19024DAZ-like
Region80 – 13253Homodimerization By similarity

Amino acid modifications

Modified residue2761Phosphotyrosine By similarity

Natural variations

Alternative sequence11M → MAAPSCGGDRKARLTPSLPH E in isoform 2.
VSP_043208
Natural variant121T → A Common polymorphism. Ref.13
Corresponds to variant rs11710967 [ dbSNP | Ensembl ].
VAR_017780
Natural variant541T → 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 variant1151R → G Severely impaired RNA-binding. Ref.14
VAR_069231

Experimental info

Sequence conflict31T → I in AAB63596. Ref.3
Sequence conflict2531Q → R in AAB84361. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 1, 1997. Version 1.
Checksum: 21B360739B35B95F

FASTA29533,178
        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 

« Hide

Isoform 2 [UniParc].

Checksum: F4380E654EFB350D
Show »

FASTA31535,224

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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 expand/collapse EMBL AC list , 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.
RefSeqNP_001177740.1. NM_001190811.1.
NP_001342.2. NM_001351.3.
UniGeneHs.131179.

3D structure databases

ProteinModelPortalQ92904.
SMRQ92904. Positions 32-117.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107987. 6 interactions.
IntActQ92904. 1 interaction.
STRING9606.ENSP00000382373.

PTM databases

PhosphoSiteQ92904.

Polymorphism databases

DMDM27805453.

Proteomic databases

PaxDbQ92904.
PRIDEQ92904.

Protocols and materials databases

DNASU1618.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000250863; ENSP00000250863; ENSG00000092345. [Q92904-2]
ENST00000399444; ENSP00000382373; ENSG00000092345. [Q92904-1]
GeneID1618.
KEGGhsa:1618.
UCSCuc003cba.3. human. [Q92904-2]
uc003cbb.3. human. [Q92904-1]

Organism-specific databases

CTD1618.
GeneCardsGC03M016603.
HGNCHGNC:2685. DAZL.
HPAHPA019593.
HPA019777.
MIM601486. gene.
neXtProtNX_Q92904.
PharmGKBPA27155.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG260394.
HOGENOMHOG000246400.
HOVERGENHBG000573.
OMARSYVIPP.
OrthoDBEOG7BGHN4.
PhylomeDBQ92904.
TreeFamTF324396.

Gene expression databases

ArrayExpressQ92904.
BgeeQ92904.
CleanExHS_DAZL.
GenevestigatorQ92904.

Family and domain databases

Gene3D3.30.70.330. 1 hit.
InterProIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamPF00076. RRM_1. 1 hit.
[Graphical view]
SMARTSM00360. RRM. 1 hit.
[Graphical view]
PROSITEPS50102. RRM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDAZL.
GenomeRNAi1618.
NextBio6646.
PROQ92904.
SOURCESearch...

Entry information

Entry nameDAZL_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM