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Q92904

- DAZL_HUMAN

UniProt

Q92904 - DAZL_HUMAN

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Protein

Deleted in azoospermia-like

Gene

DAZL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

  1. mRNA 3'-UTR binding Source: Ensembl
  2. nucleotide binding Source: InterPro
  3. RNA binding Source: ProtInc
  4. translation activator activity Source: UniProtKB

GO - Biological processi

  1. female meiosis II Source: Ensembl
  2. germ cell development Source: ProtInc
  3. multicellular organismal development Source: UniProtKB-KW
  4. oocyte maturation Source: Ensembl
  5. positive regulation of meiosis Source: Ensembl
  6. positive regulation of translational initiation Source: UniProtKB
  7. spermatogenesis Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis, Translation regulation

Keywords - Ligandi

RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in azoospermia-like
Alternative name(s):
DAZ homolog
DAZ-like autosomal
Deleted in azoospermia-like 1
SPGY-like-autosomal
Gene namesi
Name:DAZL
Synonyms:DAZH, DAZL1, DAZLA, SPGYLA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:2685. DAZL.

Subcellular locationi

Cytoplasm By similarity. Nucleus By similarity
Note: Predominantly cytoplasmic. Nuclear in spermatogonia until near the end of the meiotic prophase and cytoplasmic localization from then onward.By similarity

GO - Cellular componenti

  1. cytoplasm Source: ProtInc
  2. nucleus Source: UniProtKB-KW
  3. polysome Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27155.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 295295Deleted in azoospermia-likePRO_0000081559Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei276 – 2761PhosphotyrosineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ92904.
PRIDEiQ92904.

PTM databases

PhosphoSiteiQ92904.

Expressioni

Tissue specificityi

Testis specific.3 Publications

Gene expression databases

BgeeiQ92904.
CleanExiHS_DAZL.
ExpressionAtlasiQ92904. baseline and differential.
GenevestigatoriQ92904.

Organism-specific databases

HPAiHPA019593.
HPA019777.

Interactioni

Subunit structurei

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.By similarity3 Publications

Protein-protein interaction databases

BioGridi107987. 6 interactions.
IntActiQ92904. 1 interaction.
STRINGi9606.ENSP00000382373.

Structurei

3D structure databases

ProteinModelPortaliQ92904.
SMRiQ92904. Positions 32-117.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini40 – 11576RRMPROSITE-ProRule annotationAdd
BLAST
Domaini167 – 19024DAZ-likeAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni80 – 13253HomodimerizationBy similarityAdd
BLAST

Domaini

The DAZ-like domain mediates the interaction with DAZAP1 and DAZAP2.1 Publication

Sequence similaritiesi

Belongs to the RRM DAZ family.Curated
Contains 1 DAZ-like domain.Curated
Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG260394.
GeneTreeiENSGT00530000063480.
HOGENOMiHOG000246400.
HOVERGENiHBG000573.
InParanoidiQ92904.
OMAiRSYVIPP.
OrthoDBiEOG7BGHN4.
PhylomeDBiQ92904.
TreeFamiTF324396.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 1 hit.
[Graphical view]
SMARTiSM00360. RRM. 1 hit.
[Graphical view]
PROSITEiPS50102. RRM. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q92904-1) [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

        10         20         30         40         50
MSTANPETPN STISREASTQ SSSAATSQGY ILPEGKIMPN TVFVGGIDVR
60 70 80 90 100
MDETEIRSFF ARYGSVKEVK IITDRTGVSK GYGFVSFFND VDVQKIVESQ
110 120 130 140 150
INFHGKKLKL GPAIRKQNLC AYHVQPRPLV FNHPPPPQFQ NVWTNPNTET
160 170 180 190 200
YMQPTTTMNP ITQYVQAYPT YPNSPVQVIT GYQLPVYNYQ MPPQWPVGEQ
210 220 230 240 250
RSYVVPPAYS AVNYHCNEVD PGAEVVPNEC SVHEATPPSG NGPQKKSVDR
260 270 280 290
SIQTVVSCLF NPENRLRNSV VTQDDYFKDK RVHHFRRSRA MLKSV
Length:295
Mass (Da):33,178
Last modified:February 1, 1997 - v1
Checksum:i21B360739B35B95F
GO
Isoform 2 (identifier: Q92904-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:315
Mass (Da):35,224
Checksum:iF4380E654EFB350D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti3 – 31T → I in AAB63596. (PubMed:8968756)Curated
Sequence conflicti253 – 2531Q → R in AAB84361. (PubMed:9294855)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121T → A Common polymorphism. 1 Publication
Corresponds to variant rs11710967 [ dbSNP | Ensembl ].
VAR_017780
Natural varianti54 – 541T → 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. 1 Publication
VAR_017781
Natural varianti115 – 1151R → G Severely impaired RNA-binding. 1 Publication
VAR_069231

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MAAPSCGGDRKARLTPSLPH E in isoform 2. 2 PublicationsVSP_043208

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43059.1. [Q92904-1]
CCDS54556.1. [Q92904-2]
RefSeqiNP_001177740.1. NM_001190811.1. [Q92904-2]
NP_001342.2. NM_001351.3. [Q92904-1]
UniGeneiHs.131179.

Genome annotation databases

EnsembliENST00000250863; ENSP00000250863; ENSG00000092345. [Q92904-2]
ENST00000399444; ENSP00000382373; ENSG00000092345. [Q92904-1]
GeneIDi1618.
KEGGihsa:1618.
UCSCiuc003cba.3. human. [Q92904-2]
uc003cbb.3. human. [Q92904-1]

Polymorphism databases

DMDMi27805453.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS43059.1. [Q92904-1 ]
CCDS54556.1. [Q92904-2 ]
RefSeqi NP_001177740.1. NM_001190811.1. [Q92904-2 ]
NP_001342.2. NM_001351.3. [Q92904-1 ]
UniGenei Hs.131179.

3D structure databases

ProteinModelPortali Q92904.
SMRi Q92904. Positions 32-117.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107987. 6 interactions.
IntActi Q92904. 1 interaction.
STRINGi 9606.ENSP00000382373.

PTM databases

PhosphoSitei Q92904.

Polymorphism databases

DMDMi 27805453.

Proteomic databases

PaxDbi Q92904.
PRIDEi Q92904.

Protocols and materials databases

DNASUi 1618.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000250863 ; ENSP00000250863 ; ENSG00000092345 . [Q92904-2 ]
ENST00000399444 ; ENSP00000382373 ; ENSG00000092345 . [Q92904-1 ]
GeneIDi 1618.
KEGGi hsa:1618.
UCSCi uc003cba.3. human. [Q92904-2 ]
uc003cbb.3. human. [Q92904-1 ]

Organism-specific databases

CTDi 1618.
GeneCardsi GC03M016603.
HGNCi HGNC:2685. DAZL.
HPAi HPA019593.
HPA019777.
MIMi 601486. gene.
neXtProti NX_Q92904.
PharmGKBi PA27155.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG260394.
GeneTreei ENSGT00530000063480.
HOGENOMi HOG000246400.
HOVERGENi HBG000573.
InParanoidi Q92904.
OMAi RSYVIPP.
OrthoDBi EOG7BGHN4.
PhylomeDBi Q92904.
TreeFami TF324396.

Miscellaneous databases

GeneWikii DAZL.
GenomeRNAii 1618.
NextBioi 6646.
PROi Q92904.
SOURCEi Search...

Gene expression databases

Bgeei Q92904.
CleanExi HS_DAZL.
ExpressionAtlasi Q92904. baseline and differential.
Genevestigatori Q92904.

Family and domain databases

Gene3Di 3.30.70.330. 1 hit.
InterProi IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view ]
Pfami PF00076. RRM_1. 1 hit.
[Graphical view ]
SMARTi SM00360. RRM. 1 hit.
[Graphical view ]
PROSITEi PS50102. RRM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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.

Entry informationi

Entry nameiDAZL_HUMAN
AccessioniPrimary (citable) accession number: Q92904
Secondary accession number(s): O15396, Q5HYB4, Q92909
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: February 1, 1997
Last modified: October 29, 2014
This is version 133 of the entry and version 1 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3