UniProtKB - Q92904 (DAZL_HUMAN)
Protein
Deleted in azoospermia-like
Gene
DAZL
Organism
Homo sapiens (Human)
Status
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
- mRNA 3'-UTR binding Source: GO_Central
- RNA binding Source: ProtInc
- translation activator activity Source: UniProtKB
GO - Biological processi
- 3'-UTR-mediated mRNA stabilization Source: GO_Central
- germ cell development Source: ProtInc
- multicellular organism development Source: UniProtKB-KW
- positive regulation of translational initiation Source: UniProtKB
- spermatogenesis Source: UniProtKB-KW
Keywordsi
Molecular function | Developmental protein, RNA-binding |
Biological process | Differentiation, Spermatogenesis, Translation regulation |
Enzyme and pathway databases
PathwayCommonsi | Q92904 |
Names & Taxonomyi
Protein namesi | Recommended name: Deleted in azoospermia-likeAlternative name(s): DAZ homolog DAZ-like autosomal Deleted in azoospermia-like 1 SPGY-like-autosomal |
Gene namesi | Name:DAZL Synonyms:DAZH, DAZL1, DAZLA, SPGYLA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2685, DAZL |
MIMi | 601486, gene |
neXtProti | NX_Q92904 |
VEuPathDBi | HostDB:ENSG00000092345.13 |
Subcellular locationi
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: GO_Central
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 1618 |
OpenTargetsi | ENSG00000092345 |
PharmGKBi | PA27155 |
Miscellaneous databases
Pharosi | Q92904, Tbio |
Genetic variation databases
BioMutai | DAZL |
DMDMi | 27805453 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000081559 | 1 – 295 | Deleted in azoospermia-likeAdd BLAST | 295 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 276 | PhosphotyrosineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q92904 |
MassIVEi | Q92904 |
PaxDbi | Q92904 |
PeptideAtlasi | Q92904 |
PRIDEi | Q92904 |
ProteomicsDBi | 75589 [Q92904-1] 75590 [Q92904-2] |
PTM databases
iPTMneti | Q92904 |
PhosphoSitePlusi | Q92904 |
Expressioni
Tissue specificityi
Testis specific.3 Publications
Gene expression databases
Bgeei | ENSG00000092345, Expressed in oocyte and 60 other tissues |
ExpressionAtlasi | Q92904, baseline and differential |
Genevisiblei | Q92904, HS |
Organism-specific databases
HPAi | ENSG00000092345, Tissue enriched (testis) |
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 PublicationsProtein-protein interaction databases
BioGRIDi | 107987, 6 interactors |
IntActi | Q92904, 1 interactor |
STRINGi | 9606.ENSP00000250863 |
Miscellaneous databases
RNActi | Q92904, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 40 – 115 | RRMPROSITE-ProRule annotationAdd BLAST | 76 | |
Domaini | 167 – 190 | DAZPROSITE-ProRule annotationAdd BLAST | 24 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 80 – 132 | HomodimerizationBy similarityAdd BLAST | 53 |
Domaini
The DAZ domain mediates the interaction with DAZAP1 and DAZAP2.1 Publication
Sequence similaritiesi
Belongs to the RRM DAZ family.PROSITE-ProRule annotation
Phylogenomic databases
eggNOGi | KOG0118, Eukaryota |
GeneTreei | ENSGT00530000063480 |
HOGENOMi | CLU_084802_0_0_1 |
InParanoidi | Q92904 |
OMAi | QSECSVH |
OrthoDBi | 1610446at2759 |
PhylomeDBi | Q92904 |
TreeFami | TF324396 |
Family and domain databases
CDDi | cd12672, RRM_DAZL, 1 hit |
Gene3Di | 3.30.70.330, 1 hit |
InterProi | View protein in InterPro IPR037366, BOULE/DAZ IPR043628, DAZ_dom IPR037551, DAZ_RRM_vert IPR034779, DAZL IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR000504, RRM_dom |
PANTHERi | PTHR11176, PTHR11176, 1 hit PTHR11176:SF4, PTHR11176:SF4, 1 hit |
Pfami | View protein in Pfam PF18872, Daz, 1 hit PF00076, RRM_1, 1 hit |
SMARTi | View protein in SMART SM00360, RRM, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS51890, DAZ, 1 hit PS50102, RRM, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q92904-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE7EV40 | E7EV40_HUMAN | Deleted in azoospermia-like | DAZL | 204 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 3 | T → I in AAB63596 (PubMed:8968756).Curated | 1 | |
Sequence conflicti | 253 | Q → R in AAB84361 (PubMed:9294855).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017780 | 12 | T → A1 PublicationCorresponds to variant dbSNP:rs11710967Ensembl. | 1 | |
Natural variantiVAR_017781 | 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. 1 PublicationCorresponds to variant dbSNP:rs121918346EnsemblClinVar. | 1 | |
Natural variantiVAR_069231 | 115 | R → G Severely impaired RNA-binding. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043208 | 1 | M → MAAPSCGGDRKARLTPSLPH E in isoform 2. 2 Publications | 1 |
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] |
Genome annotation databases
Ensembli | ENST00000250863; ENSP00000250863; ENSG00000092345 [Q92904-2] ENST00000399444; ENSP00000382373; ENSG00000092345 [Q92904-1] |
GeneIDi | 1618 |
KEGGi | hsa:1618 |
UCSCi | uc003cba.4, human [Q92904-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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] |
3D structure databases
SMRi | Q92904 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107987, 6 interactors |
IntActi | Q92904, 1 interactor |
STRINGi | 9606.ENSP00000250863 |
PTM databases
iPTMneti | Q92904 |
PhosphoSitePlusi | Q92904 |
Genetic variation databases
BioMutai | DAZL |
DMDMi | 27805453 |
Proteomic databases
EPDi | Q92904 |
MassIVEi | Q92904 |
PaxDbi | Q92904 |
PeptideAtlasi | Q92904 |
PRIDEi | Q92904 |
ProteomicsDBi | 75589 [Q92904-1] 75590 [Q92904-2] |
Protocols and materials databases
Antibodypediai | 6122, 309 antibodies |
DNASUi | 1618 |
Genome annotation databases
Ensembli | ENST00000250863; ENSP00000250863; ENSG00000092345 [Q92904-2] ENST00000399444; ENSP00000382373; ENSG00000092345 [Q92904-1] |
GeneIDi | 1618 |
KEGGi | hsa:1618 |
UCSCi | uc003cba.4, human [Q92904-1] |
Organism-specific databases
CTDi | 1618 |
DisGeNETi | 1618 |
GeneCardsi | DAZL |
HGNCi | HGNC:2685, DAZL |
HPAi | ENSG00000092345, Tissue enriched (testis) |
MIMi | 601486, gene |
neXtProti | NX_Q92904 |
OpenTargetsi | ENSG00000092345 |
PharmGKBi | PA27155 |
VEuPathDBi | HostDB:ENSG00000092345.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0118, Eukaryota |
GeneTreei | ENSGT00530000063480 |
HOGENOMi | CLU_084802_0_0_1 |
InParanoidi | Q92904 |
OMAi | QSECSVH |
OrthoDBi | 1610446at2759 |
PhylomeDBi | Q92904 |
TreeFami | TF324396 |
Enzyme and pathway databases
PathwayCommonsi | Q92904 |
Miscellaneous databases
BioGRID-ORCSi | 1618, 28 hits in 874 CRISPR screens |
ChiTaRSi | DAZL, human |
GeneWikii | DAZL |
GenomeRNAii | 1618 |
Pharosi | Q92904, Tbio |
PROi | PR:Q92904 |
RNActi | Q92904, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000092345, Expressed in oocyte and 60 other tissues |
ExpressionAtlasi | Q92904, baseline and differential |
Genevisiblei | Q92904, HS |
Family and domain databases
CDDi | cd12672, RRM_DAZL, 1 hit |
Gene3Di | 3.30.70.330, 1 hit |
InterProi | View protein in InterPro IPR037366, BOULE/DAZ IPR043628, DAZ_dom IPR037551, DAZ_RRM_vert IPR034779, DAZL IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR000504, RRM_dom |
PANTHERi | PTHR11176, PTHR11176, 1 hit PTHR11176:SF4, PTHR11176:SF4, 1 hit |
Pfami | View protein in Pfam PF18872, Daz, 1 hit PF00076, RRM_1, 1 hit |
SMARTi | View protein in SMART SM00360, RRM, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS51890, DAZ, 1 hit PS50102, RRM, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DAZL_HUMAN | |
Accessioni | Q92904Primary (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: | February 10, 2021 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM