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Deleted in azoospermia-like (DAZ homolog) (DAZ-like autosomal) (Deleted in azoospermia-like 1) (SPGY-like-autosomal)

 DAZL_HUMAN              Reviewed;         295 AA.
Q92904; O15396; Q5HYB4; Q92909;
17-JAN-2003, integrated into UniProtKB/Swiss-Prot.
01-FEB-1997, sequence version 1.
22-NOV-2017, entry version 162.
RecName: Full=Deleted in azoospermia-like;
AltName: Full=DAZ homolog;
AltName: Full=DAZ-like autosomal;
AltName: Full=Deleted in azoospermia-like 1;
AltName: Full=SPGY-like-autosomal;
Name=DAZL; Synonyms=DAZH, DAZL1, DAZLA, SPGYLA;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
TISSUE=Testis;
PubMed=8896558; DOI=10.1038/ng1196-292;
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.;
"The DAZ gene cluster on the human Y chromosome arose from an
autosomal gene that was transposed, repeatedly amplified and pruned.";
Nat. Genet. 14:292-299(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
TISSUE=Testis;
PubMed=8968755; DOI=10.1093/hmg/5.12.2005;
Shan Z., Hirschmann P., Seebacher T., Edelmann A., Jauch A.,
Morell J., Urbitsch P., Vogt P.H.;
"A SPGY copy homologous to the mouse gene Dazla and the Drosophila
gene boule is autosomal and expressed only in the human male gonad.";
Hum. Mol. Genet. 5:2005-2011(1996).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
TISSUE=Testis;
PubMed=8968756; DOI=10.1093/hmg/5.12.2013;
Yen P.H., Chai N.-N., Salido E.C.;
"The human autosomal gene DAZLA: testis specificity and a candidate
for male infertility.";
Hum. Mol. Genet. 5:2013-2017(1996).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
PubMed=9294855; DOI=10.1093/molehr/3.8.705;
Chai N.-N., Phillips A., Fernandez A., Yen P.H.;
"A putative human male infertility gene DAZLA: genomic structure and
methylation status.";
Mol. Hum. Reprod. 3:705-708(1997).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Testis;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Testis;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
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.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16641997; DOI=10.1038/nature04728;
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.;
"The DNA sequence, annotation and analysis of human chromosome 3.";
Nature 440:1194-1198(2006).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
DOMAIN, AND INTERACTION WITH DAZAP1 AND DAZAP2.
TISSUE=Testis;
PubMed=10857750; DOI=10.1006/geno.2000.6169;
Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., Yen P.H.;
"Identification of two novel proteins that interact with germ-cell-
specific RNA-binding proteins DAZ and DAZL1.";
Genomics 65:266-273(2000).
[11]
INTERACTION WITH BOLL.
PubMed=11390979; DOI=10.1073/pnas.131090498;
Xu E.Y., Moore F.L., Reijo Pera R.A.;
"A gene family required for human germ cell development evolved from
an ancient meiotic gene conserved in metazoans.";
Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001).
[12]
INTERACTION WITH PUM2.
PubMed=12511597; DOI=10.1073/pnas.0234478100;
Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J.,
Dorfman D.M., Reijo Pera R.A.;
"Human Pumilio-2 is expressed in embryonic stem cells and germ cells
and interacts with DAZ (Deleted in AZoospermia) and DAZ-like
proteins.";
Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003).
[13]
VARIANTS ALA-12 AND ALA-54.
PubMed=12414900; DOI=10.1210/jc.2002-020016;
Teng Y.-N., Lin Y.-M., Lin Y.-H., Tsao S.-Y., Hsu C.-C., Lin S.-J.,
Tsai W.-C., Kuo P.-L.;
"Association of a single-nucleotide polymorphism of the deleted-in-
azoospermia-like gene with susceptibility to spermatogenic failure.";
J. Clin. Endocrinol. Metab. 87:5258-5264(2002).
[14]
VARIANT GLY-115.
PubMed=22021443; DOI=10.1073/pnas.1105211108;
Jenkins H.T., Malkova B., Edwards T.A.;
"Kinked beta-strands mediate high-affinity recognition of mRNA targets
by the germ-cell regulator DAZL.";
Proc. Natl. Acad. Sci. U.S.A. 108:18266-18271(2011).
-!- 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). {ECO:0000250}.
-!- SUBUNIT: 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. {ECO:0000250,
ECO:0000269|PubMed:10857750, ECO:0000269|PubMed:11390979,
ECO:0000269|PubMed:12511597}.
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus
{ECO:0000250}. Note=Predominantly cytoplasmic. Nuclear in
spermatogonia until near the end of the meiotic prophase and
cytoplasmic localization from then onward. {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q92904-1; Sequence=Displayed;
Name=2;
IsoId=Q92904-2; Sequence=VSP_043208;
-!- TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:8896558,
ECO:0000269|PubMed:8968755, ECO:0000269|PubMed:8968756}.
-!- DOMAIN: The DAZ-like domain mediates the interaction with DAZAP1
and DAZAP2. {ECO:0000269|PubMed:10857750}.
-!- SIMILARITY: Belongs to the RRM DAZ family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; U65918; AAC50813.1; -; mRNA.
EMBL; U66726; AAB39935.1; -; mRNA.
EMBL; U66078; AAB63596.1; -; mRNA.
EMBL; U77476; AAB84361.1; -; Genomic_DNA.
EMBL; U77467; AAB84361.1; JOINED; Genomic_DNA.
EMBL; U77468; AAB84361.1; JOINED; Genomic_DNA.
EMBL; U77469; AAB84361.1; JOINED; Genomic_DNA.
EMBL; U77470; AAB84361.1; JOINED; Genomic_DNA.
EMBL; U77471; AAB84361.1; JOINED; Genomic_DNA.
EMBL; U77472; AAB84361.1; JOINED; Genomic_DNA.
EMBL; U77473; AAB84361.1; JOINED; Genomic_DNA.
EMBL; U77474; AAB84361.1; JOINED; Genomic_DNA.
EMBL; U77475; AAB84361.1; JOINED; Genomic_DNA.
EMBL; AK303026; BAG64152.1; -; mRNA.
EMBL; BX648638; CAI45996.1; -; mRNA.
EMBL; AC010139; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471055; EAW64279.1; -; Genomic_DNA.
EMBL; BC027595; AAH27595.1; -; mRNA.
CCDS; CCDS43059.1; -. [Q92904-1]
CCDS; CCDS54556.1; -. [Q92904-2]
RefSeq; NP_001177740.1; NM_001190811.1. [Q92904-2]
RefSeq; NP_001342.2; NM_001351.3. [Q92904-1]
UniGene; Hs.131179; -.
ProteinModelPortal; Q92904; -.
SMR; Q92904; -.
BioGrid; 107987; 6.
IntAct; Q92904; 1.
STRING; 9606.ENSP00000250863; -.
iPTMnet; Q92904; -.
PhosphoSitePlus; Q92904; -.
BioMuta; DAZL; -.
DMDM; 27805453; -.
EPD; Q92904; -.
PaxDb; Q92904; -.
PeptideAtlas; Q92904; -.
PRIDE; Q92904; -.
DNASU; 1618; -.
Ensembl; ENST00000250863; ENSP00000250863; ENSG00000092345. [Q92904-2]
Ensembl; ENST00000399444; ENSP00000382373; ENSG00000092345. [Q92904-1]
GeneID; 1618; -.
KEGG; hsa:1618; -.
UCSC; uc003cba.4; human. [Q92904-1]
CTD; 1618; -.
DisGeNET; 1618; -.
EuPathDB; HostDB:ENSG00000092345.13; -.
GeneCards; DAZL; -.
HGNC; HGNC:2685; DAZL.
HPA; HPA019593; -.
HPA; HPA019777; -.
HPA; HPA047113; -.
MIM; 601486; gene.
neXtProt; NX_Q92904; -.
OpenTargets; ENSG00000092345; -.
PharmGKB; PA27155; -.
eggNOG; KOG0118; Eukaryota.
eggNOG; COG0724; LUCA.
GeneTree; ENSGT00530000063480; -.
HOGENOM; HOG000246400; -.
HOVERGEN; HBG000573; -.
InParanoid; Q92904; -.
OMA; RSYVIPP; -.
OrthoDB; EOG091G02CS; -.
PhylomeDB; Q92904; -.
TreeFam; TF324396; -.
GeneWiki; DAZL; -.
GenomeRNAi; 1618; -.
PRO; PR:Q92904; -.
Proteomes; UP000005640; Chromosome 3.
Bgee; ENSG00000092345; -.
CleanEx; HS_DAZL; -.
ExpressionAtlas; Q92904; baseline and differential.
Genevisible; Q92904; HS.
GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
GO; GO:0005622; C:intracellular; IDA:UniProtKB.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0005844; C:polysome; IEA:Ensembl.
GO; GO:0043234; C:protein complex; IDA:UniProtKB.
GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
GO; GO:0003730; F:mRNA 3'-UTR binding; IBA:GO_Central.
GO; GO:0003723; F:RNA binding; TAS:ProtInc.
GO; GO:0008494; F:translation activator activity; IDA:UniProtKB.
GO; GO:0070935; P:3'-UTR-mediated mRNA stabilization; IBA:GO_Central.
GO; GO:0007147; P:female meiosis II; IEA:Ensembl.
GO; GO:0007281; P:germ cell development; TAS:ProtInc.
GO; GO:0007275; P:multicellular organism development; IEA:UniProtKB-KW.
GO; GO:0001556; P:oocyte maturation; IEA:Ensembl.
GO; GO:0045836; P:positive regulation of meiotic nuclear division; IEA:Ensembl.
GO; GO:0045948; P:positive regulation of translational initiation; IDA:UniProtKB.
GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
InterPro; IPR034779; DAZL.
InterPro; IPR035979; RBD_domain_sf.
InterPro; IPR000504; RRM_dom.
PANTHER; PTHR11176:SF4; PTHR11176:SF4; 1.
Pfam; PF00076; RRM_1; 1.
SMART; SM00360; RRM; 1.
SUPFAM; SSF54928; SSF54928; 1.
PROSITE; PS50102; RRM; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Cytoplasm;
Developmental protein; Differentiation; Nucleus; Phosphoprotein;
Polymorphism; Reference proteome; RNA-binding; Spermatogenesis;
Translation regulation.
CHAIN 1 295 Deleted in azoospermia-like.
/FTId=PRO_0000081559.
DOMAIN 40 115 RRM. {ECO:0000255|PROSITE-
ProRule:PRU00176}.
DOMAIN 167 190 DAZ-like.
REGION 80 132 Homodimerization. {ECO:0000250}.
MOD_RES 276 276 Phosphotyrosine.
{ECO:0000250|UniProtKB:Q64368}.
VAR_SEQ 1 1 M -> MAAPSCGGDRKARLTPSLPHE (in isoform
2). {ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:17974005}.
/FTId=VSP_043208.
VARIANT 12 12 T -> A (common polymorphism;
dbSNP:rs11710967).
{ECO:0000269|PubMed:12414900}.
/FTId=VAR_017780.
VARIANT 54 54 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;
dbSNP:rs121918346).
{ECO:0000269|PubMed:12414900}.
/FTId=VAR_017781.
VARIANT 115 115 R -> G (severely impaired RNA-binding).
{ECO:0000269|PubMed:22021443}.
/FTId=VAR_069231.
CONFLICT 3 3 T -> I (in Ref. 3; AAB63596).
{ECO:0000305}.
CONFLICT 253 253 Q -> R (in Ref. 4; AAB84361).
{ECO:0000305}.
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


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