DAZL_HUMAN
ID DAZL_HUMAN Reviewed; 295 AA.
AC Q92904; O15396; Q5HYB4; Q92909;
DT 17-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1997, sequence version 1.
DT 03-AUG-2022, entry version 189.
DE RecName: Full=Deleted in azoospermia-like;
DE AltName: Full=DAZ homolog;
DE AltName: Full=DAZ-like autosomal;
DE AltName: Full=Deleted in azoospermia-like 1;
DE AltName: Full=SPGY-like-autosomal;
GN Name=DAZL; Synonyms=DAZH, DAZL1, DAZLA, SPGYLA;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=8896558; DOI=10.1038/ng1196-292;
RA Saxena R., Brown L.G., Hawkins T., Alagappan R.K., Skaletsky H.,
RA Reeve M.P., Reijo R.A., Rozen S., Dinulos M.B., Disteche C.M., Page D.C.;
RT "The DAZ gene cluster on the human Y chromosome arose from an autosomal
RT gene that was transposed, repeatedly amplified and pruned.";
RL Nat. Genet. 14:292-299(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=8968755; DOI=10.1093/hmg/5.12.2005;
RA Shan Z., Hirschmann P., Seebacher T., Edelmann A., Jauch A., Morell J.,
RA Urbitsch P., Vogt P.H.;
RT "A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene
RT boule is autosomal and expressed only in the human male gonad.";
RL Hum. Mol. Genet. 5:2005-2011(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=8968756; DOI=10.1093/hmg/5.12.2013;
RA Yen P.H., Chai N.-N., Salido E.C.;
RT "The human autosomal gene DAZLA: testis specificity and a candidate for
RT male infertility.";
RL Hum. Mol. Genet. 5:2013-2017(1996).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RX PubMed=9294855; DOI=10.1093/molehr/3.8.705;
RA Chai N.-N., Phillips A., Fernandez A., Yen P.H.;
RT "A putative human male infertility gene DAZLA: genomic structure and
RT methylation status.";
RL Mol. Hum. Reprod. 3:705-708(1997).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP DOMAIN, AND INTERACTION WITH DAZAP1 AND DAZAP2.
RC TISSUE=Testis;
RX PubMed=10857750; DOI=10.1006/geno.2000.6169;
RA Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., Yen P.H.;
RT "Identification of two novel proteins that interact with germ-cell-specific
RT RNA-binding proteins DAZ and DAZL1.";
RL Genomics 65:266-273(2000).
RN [11]
RP INTERACTION WITH BOLL.
RX PubMed=11390979; DOI=10.1073/pnas.131090498;
RA Xu E.Y., Moore F.L., Reijo Pera R.A.;
RT "A gene family required for human germ cell development evolved from an
RT ancient meiotic gene conserved in metazoans.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001).
RN [12]
RP INTERACTION WITH PUM2.
RX PubMed=12511597; DOI=10.1073/pnas.0234478100;
RA Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J.,
RA Dorfman D.M., Reijo Pera R.A.;
RT "Human Pumilio-2 is expressed in embryonic stem cells and germ cells and
RT interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003).
RN [13]
RP VARIANTS ALA-12 AND ALA-54.
RX PubMed=12414900; DOI=10.1210/jc.2002-020016;
RA Teng Y.-N., Lin Y.-M., Lin Y.-H., Tsao S.-Y., Hsu C.-C., Lin S.-J.,
RA Tsai W.-C., Kuo P.-L.;
RT "Association of a single-nucleotide polymorphism of the deleted-in-
RT azoospermia-like gene with susceptibility to spermatogenic failure.";
RL J. Clin. Endocrinol. Metab. 87:5258-5264(2002).
RN [14]
RP VARIANT GLY-115.
RX PubMed=22021443; DOI=10.1073/pnas.1105211108;
RA Jenkins H.T., Malkova B., Edwards T.A.;
RT "Kinked beta-strands mediate high-affinity recognition of mRNA targets by
RT the germ-cell regulator DAZL.";
RL Proc. Natl. Acad. Sci. U.S.A. 108:18266-18271(2011).
CC -!- FUNCTION: RNA-binding protein, which is essential for gametogenesis in
CC both males and females. Plays a central role during spermatogenesis.
CC Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU
CC triplets, and thereby regulating the translation of key transcripts (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Homodimer and heterodimer. Multiple DAZL RRMs can bind to a
CC single RNA containing multiple GUU triplets (By similarity). Forms a
CC heterodimer with DAZ. Interacts with BOLL, DAZAP1 and DAZAP2. Interacts
CC with PUM2. {ECO:0000250, ECO:0000269|PubMed:10857750,
CC ECO:0000269|PubMed:11390979, ECO:0000269|PubMed:12511597}.
CC -!- INTERACTION:
CC Q92904; Q9NQZ3: DAZ1; NbExp=2; IntAct=EBI-998153, EBI-997955;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
CC Note=Predominantly cytoplasmic. Nuclear in spermatogonia until near the
CC end of the meiotic prophase and cytoplasmic localization from then
CC onward. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q92904-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q92904-2; Sequence=VSP_043208;
CC -!- TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:8896558,
CC ECO:0000269|PubMed:8968755, ECO:0000269|PubMed:8968756}.
CC -!- DOMAIN: The DAZ domain mediates the interaction with DAZAP1 and DAZAP2.
CC {ECO:0000269|PubMed:10857750}.
CC -!- SIMILARITY: Belongs to the RRM DAZ family. {ECO:0000255|PROSITE-
CC ProRule:PRU01238}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; U65918; AAC50813.1; -; mRNA.
DR EMBL; U66726; AAB39935.1; -; mRNA.
DR EMBL; U66078; AAB63596.1; -; mRNA.
DR EMBL; U77476; AAB84361.1; -; Genomic_DNA.
DR EMBL; U77467; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; U77468; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; U77469; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; U77470; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; U77471; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; U77472; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; U77473; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; U77474; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; U77475; AAB84361.1; JOINED; Genomic_DNA.
DR EMBL; AK303026; BAG64152.1; -; mRNA.
DR EMBL; BX648638; CAI45996.1; -; mRNA.
DR EMBL; AC010139; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW64279.1; -; Genomic_DNA.
DR EMBL; BC027595; AAH27595.1; -; mRNA.
DR CCDS; CCDS43059.1; -. [Q92904-1]
DR CCDS; CCDS54556.1; -. [Q92904-2]
DR RefSeq; NP_001177740.1; NM_001190811.1. [Q92904-2]
DR RefSeq; NP_001342.2; NM_001351.3. [Q92904-1]
DR AlphaFoldDB; Q92904; -.
DR SMR; Q92904; -.
DR BioGRID; 107987; 145.
DR IntAct; Q92904; 5.
DR STRING; 9606.ENSP00000250863; -.
DR iPTMnet; Q92904; -.
DR PhosphoSitePlus; Q92904; -.
DR BioMuta; DAZL; -.
DR DMDM; 27805453; -.
DR EPD; Q92904; -.
DR MassIVE; Q92904; -.
DR PaxDb; Q92904; -.
DR PeptideAtlas; Q92904; -.
DR PRIDE; Q92904; -.
DR ProteomicsDB; 75589; -. [Q92904-1]
DR ProteomicsDB; 75590; -. [Q92904-2]
DR Antibodypedia; 6122; 329 antibodies from 38 providers.
DR DNASU; 1618; -.
DR Ensembl; ENST00000250863.12; ENSP00000250863.8; ENSG00000092345.14. [Q92904-2]
DR Ensembl; ENST00000399444.7; ENSP00000382373.3; ENSG00000092345.14. [Q92904-1]
DR GeneID; 1618; -.
DR KEGG; hsa:1618; -.
DR MANE-Select; ENST00000399444.7; ENSP00000382373.3; NM_001351.4; NP_001342.2.
DR UCSC; uc003cba.4; human. [Q92904-1]
DR CTD; 1618; -.
DR DisGeNET; 1618; -.
DR GeneCards; DAZL; -.
DR HGNC; HGNC:2685; DAZL.
DR HPA; ENSG00000092345; Tissue enriched (testis).
DR MIM; 601486; gene.
DR neXtProt; NX_Q92904; -.
DR OpenTargets; ENSG00000092345; -.
DR PharmGKB; PA27155; -.
DR VEuPathDB; HostDB:ENSG00000092345; -.
DR eggNOG; KOG0118; Eukaryota.
DR GeneTree; ENSGT00530000063480; -.
DR HOGENOM; CLU_084802_0_0_1; -.
DR InParanoid; Q92904; -.
DR OMA; QSECSVH; -.
DR OrthoDB; 1610446at2759; -.
DR PhylomeDB; Q92904; -.
DR TreeFam; TF324396; -.
DR PathwayCommons; Q92904; -.
DR SignaLink; Q92904; -.
DR BioGRID-ORCS; 1618; 33 hits in 1065 CRISPR screens.
DR ChiTaRS; DAZL; human.
DR GeneWiki; DAZL; -.
DR GenomeRNAi; 1618; -.
DR Pharos; Q92904; Tbio.
DR PRO; PR:Q92904; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q92904; protein.
DR Bgee; ENSG00000092345; Expressed in oocyte and 54 other tissues.
DR ExpressionAtlas; Q92904; baseline and differential.
DR Genevisible; Q92904; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0003730; F:mRNA 3'-UTR binding; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; TAS:ProtInc.
DR GO; GO:0008494; F:translation activator activity; IDA:UniProtKB.
DR GO; GO:0070935; P:3'-UTR-mediated mRNA stabilization; IBA:GO_Central.
DR GO; GO:0007281; P:germ cell development; TAS:ProtInc.
DR GO; GO:0045948; P:positive regulation of translational initiation; IDA:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR CDD; cd12672; RRM_DAZL; 1.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR037366; BOULE/DAZ.
DR InterPro; IPR043628; DAZ_dom.
DR InterPro; IPR037551; DAZ_RRM_vert.
DR InterPro; IPR034779; DAZL.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR000504; RRM_dom.
DR PANTHER; PTHR11176; PTHR11176; 1.
DR PANTHER; PTHR11176:SF4; PTHR11176:SF4; 1.
DR Pfam; PF18872; Daz; 1.
DR Pfam; PF00076; RRM_1; 1.
DR SMART; SM00360; RRM; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS51890; DAZ; 1.
DR PROSITE; PS50102; RRM; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Developmental protein; Differentiation;
KW Nucleus; Phosphoprotein; Reference proteome; RNA-binding; Spermatogenesis;
KW Translation regulation.
FT CHAIN 1..295
FT /note="Deleted in azoospermia-like"
FT /id="PRO_0000081559"
FT DOMAIN 40..115
FT /note="RRM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 167..190
FT /note="DAZ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 80..132
FT /note="Homodimerization"
FT /evidence="ECO:0000250"
FT MOD_RES 276
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q64368"
FT VAR_SEQ 1
FT /note="M -> MAAPSCGGDRKARLTPSLPHE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_043208"
FT VARIANT 12
FT /note="T -> A (in dbSNP:rs11710967)"
FT /evidence="ECO:0000269|PubMed:12414900"
FT /id="VAR_017780"
FT VARIANT 54
FT /note="T -> A (may be associated with susceptibility to
FT spermatogenic failure in Asian individuals; this
FT substitution may lead to affect the DAZL transcript
FT stability and prevent its translation; dbSNP:rs121918346)"
FT /evidence="ECO:0000269|PubMed:12414900"
FT /id="VAR_017781"
FT VARIANT 115
FT /note="R -> G (severely impaired RNA-binding)"
FT /evidence="ECO:0000269|PubMed:22021443"
FT /id="VAR_069231"
FT CONFLICT 3
FT /note="T -> I (in Ref. 3; AAB63596)"
FT /evidence="ECO:0000305"
FT CONFLICT 253
FT /note="Q -> R (in Ref. 4; AAB84361)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 295 AA; 33178 MW; 21B360739B35B95F CRC64;
MSTANPETPN STISREASTQ SSSAATSQGY ILPEGKIMPN TVFVGGIDVR MDETEIRSFF
ARYGSVKEVK IITDRTGVSK GYGFVSFFND VDVQKIVESQ INFHGKKLKL GPAIRKQNLC
AYHVQPRPLV FNHPPPPQFQ NVWTNPNTET YMQPTTTMNP ITQYVQAYPT YPNSPVQVIT
GYQLPVYNYQ MPPQWPVGEQ RSYVVPPAYS AVNYHCNEVD PGAEVVPNEC SVHEATPPSG
NGPQKKSVDR SIQTVVSCLF NPENRLRNSV VTQDDYFKDK RVHHFRRSRA MLKSV
