DDX3Y - DEAD-box helicase 3 Y-linked Gene
Also Known as DBY
Species: Homo sapiens
About DDX3Y
This gene has 9 transcripts (splice variants), 221 orthologues, 38 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 32.5), testis (RPKM 29.4) and 19 other tissues.
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]
DDX3Y Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001122665.3 | NP_001116137.1 | ATP-dependent RNA helicase DDX3Y isoform 1 |
| NM_001302552.3 | NP_001289481.1 | ATP-dependent RNA helicase DDX3Y isoform 2 |
| NM_001324195.2 | NP_001311124.1 | ATP-dependent RNA helicase DDX3Y isoform 3 |
| NM_004660.5 | NP_004651.2 | ATP-dependent RNA helicase DDX3Y isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
DDX3Y Protein Structure
DEAD: DEAD/DEAH box helicase (202 - 389)
Helicase_C: Helicase conserved C-terminal domain (458 - 534)
- 0
- 200
- 400
- 600
- 660 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ATP-dependent RNA helicase DDX3Y |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spermatogenic Failure, Y-Linked, 2 |
|
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| Partial Deletion Of Y |
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| Male Infertility |
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| Infertility |
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| Spermatogenic Failure |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | DDX3Y | MGD | MGI:1349406 |
| Macaca mulatta | DDX3Y | VGNC | VGNC:101429 |
| Rattus norvegicus | DDX3Y | RGD | RGD:2314437 |
| Others | DDX3Y | NCBI |