DDX39A
Summary: This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DExD-box helicase 39A | Ensembl:ENSG00000123136 | HGNC:HGNC:17821 | PA27226 | 19p13.12 |
GO terms in DDX39A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | EXP | GO:0016887 | ATPase activity |
| MF | IPI | GO:0042802 | identical protein binding |
| BP | IGI | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0006405 | RNA export from nucleus |
| BP | IGI | GO:0006406 | mRNA export from nucleus |
| BP | TAS | GO:0031124 | mRNA 3'-end processing |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | HDA | GO:0016020 | membrane |
| CC | IDA | GO:0016607 | nuclear speck |
Gene expression in normal tissue: DDX39A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DDX39A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109688 | Cleavage of Growing Transcript in the Termination Region |
| reactome | R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| reactome | R-HSA-72187 | mRNA 3'-end processing |
| reactome | R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| reactome | R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| reactome | R-HSA-73856 | RNA Polymerase II Transcription Termination |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953854 | Metabolism of RNA |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DDX39A
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