Basic Information

Symbol
DDX3Y
RNA class
mRNA
Alias
DEAD-Box Helicase 3 Y-Linked DBY DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide, Y Chromosome DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 3, Y-Linked DEAD (Asp-Glu-Ala-Asp) Box Helicase 3, Y-Linked DEAD Box Protein 3, Y-Chromosomal ATP-Dependent RNA Helicase DDX3Y EC 3.6.4.13 EC 3.6.1
Location (GRCh38)
Y:12904108-12920478
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis Sudden cardiac death diagnosis Individual identification Wound age identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004660.5
Sequence length
4408.0 nt
GC content
0.3927

Transcripts

ID Sequence Length GC content
NM_001122665.3 NCBI
AGGUGUGUUAUCAUCAACGUCAUUCAGUAUGUAAUUGUUUCAUUGUUUC… 4757 nt 0.4000
NM_001302552.3 NCBI
AUGGUGGGGAGGGUAGGGAAGGAUGGCUGCCGCGUGCUUCUCUUGACCC… 4389 nt 0.3937
NM_001324195.2 NCBI
AGUGUAAGAGUUCCGCUAUUCGGUCUCACACCUACAGUGGACUACCCGA… 4339 nt 0.3939
NM_004660.5 NCBI
AGUGUAAGAGUUCCGCUAUUCGGUCUCACACCUACAGUGGACUACCCGA… 4408 nt 0.3927
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, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Forensic Context

A study in human ex vivo skin explants demonstrated that the DDX3Y is an early burn response gene, showing significant upregulation in burned tissue at 1, 4, and 24 hours post-injury [Foessl et al. DOI:10.3390/ijms22179209]. Furthermore, a meta-analysis of human heart tissue microarray data identified the DDX3Y as part of a common gene expression signature for structural heart diseases, where it was significantly upregulated in diseased samples compared to controls, contributing to a diagnostic classifier with approximately 95% accuracy [Fajarda et al. DOI:10.1186/s13040-020-00217-8]. A study in human samples demonstrated that the DDX3Y is a male-specific gene located on the Y-chromosome, as noted in the introductory discussion of a forensic RNA profiling system designed for positive sex identification [van den Berge et al. DOI:10.1016/j.fsigen.2016.10.018].