1. Gene
  2. DDX39A - DExD-box helicase 39A Gene

DDX39A - DExD-box helicase 39A Gene

Homo sapiens

Also known as BAT1; DDXL; BAT1L; DDX39; URH49

Gene ID: 10212 | Gene type: protein coding

About DDX39A

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:14,408,798-14,419,383 (from NCBI)

This gene has 21 transcripts (splice variants), 283 orthologues and 38 paralogues. Broad expression in testis (RPKM 59.3), bone marrow (RPKM 58.2) and 24 other tissues.

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]

DDX39A Products(1)

mRNA Protein Name
NM_005804.4 NP_005795.2 ATP-dependent RNA helicase DDX39A

DDX39A Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (69 - 234)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (305 - 381)

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  • 427 a.a.
Protein Preferred Names Protein Names

ATP-dependent RNA helicase DDX39A

DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A

Related Diseases

Diseases Alias
Hairy Tongue

Overgrowth Of Filiform Papillae

Tongue, Hairy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus DDX39A VGNC VGNC:27964
Felis catus DDX39A VGNC VGNC:61406
Canis familiaris DDX39A VGNC VGNC:39854
Mus musculus DDX39A MGD MGI:1915528
Macaca mulatta DDX39A VGNC VGNC:71651
Rattus norvegicus DDX39A RGD RGD:619920