Gene Gene information from NCBI Gene database.
Entrez ID 8653
Gene name DEAD-box helicase 3 Y-linked
Gene symbol DDX3Y
Synonyms (NCBI Gene)
DBY
Chromosome Y
Chromosome location Yq11.221
Summary The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding,
miRNA miRNA information provided by mirtarbase database.
302
miRTarBase ID miRNA Experiments Reference
MIRT023122 hsa-miR-124-3p Microarray 18668037
MIRT032055 hsa-miR-16-5p Proteomics 18668040
MIRT046978 hsa-miR-221-3p CLASH 23622248
MIRT052727 hsa-miR-1260b CLASH 23622248
MIRT558428 hsa-miR-203a-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0003724 Function RNA helicase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
400010 2699 ENSG00000067048
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15523
Protein name ATP-dependent RNA helicase DDX3Y (EC 3.6.4.13) (DEAD box protein 3, Y-chromosomal)
Protein function Probable ATP-dependent RNA helicase. During immune response, may enhance IFNB1 expression via IRF3/IRF7 pathway (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 202 390 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 424 534 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed at the mRNA level, with highest levels in testis (PubMed:9381176). Testis-specific (at protein level). Expressed predominantly in spermatogonia, but occasionally detected in some pre-leptotene/leptotene spermatocytes (
Sequence
MSHVVVKNDPELDQQLANLDLNSEKQSGGASTASKGRYIPPHLRNREASKGFHDKDSSGW
SCSKDKDAYSSFGSRDSRGKPGYFSERGSGSRGRFDDRGRSDYDGIGNRERPGFGRFERS
GHSRWCDKSVEDDWSKPLPPSERLEQELFSGGNTGINFEKYDDIPVEATGSNCPPHIENF
SDIDMGEIIMGNIELTRYTRPTPVQKHAIPIIKGKRDLMACAQTGSGKTAAFLLPILSQI
YTDGPGEALKAVKENGRYGRRKQYPISLVLAPTRELAVQIYEEARKFSYRSRVRPCVVYG
GADIGQQIRDLERGCHLLVATPGRLVDMMERGKIGLDFCKYLVLDEADRMLDMGFEPQIR
RIVEQDTMPPKGVRHTMMFSATFPKEIQML
ARDFLDEYIFLAVGRVGSTSENITQKVVWV
EDLDKRSFLLDILGATGSDSLTLVFVETKKGADSLEDFLYHEGYACTSIHGDRSQRDREE
ALHQFRSGKSPILVATAVAARGLDISNVRHVINFDLPSDIEEYVHRIGRTGRVG
NLGLAT
SFFNEKNMNITKDLLDLLVEAKQEVPSWLENMAYEHHYKGGSRGRSKSNRFSGGFGARDY
RQSSGSSSSGFGASRGSSSRSGGGGYGNSRGFGGGGYGGFYNSDGYGGNYNSQGVDWWGN
Sequence length 660
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Non-obstructive azoospermia Likely pathogenic rs2521791712, rs2521805596, rs2521805721, rs2521809031 RCV003127204
RCV003127205
RCV003127206
RCV003127207
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DDX3Y-related disorder Likely benign rs201495354 RCV003939496
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 36928034
Azoospermia Associate 36997603
Carcinogenesis Inhibit 38217953
Carcinoma Squamous Cell Associate 30865384
Cerebral Infarction Associate 22365286
Depressive Disorder Major Associate 36928034
Esophageal Squamous Cell Carcinoma Associate 30865384
Glioblastoma Associate 40362575
Gonadoblastoma Associate 35481403
Graft vs Host Disease Associate 11929796, 14512314, 17085304