1. Gene
  2. DDX54 - DEAD-box helicase 54 Gene

DDX54 - DEAD-box helicase 54 Gene

Homo sapiens

Also known as DP97

Gene ID: 79039 | Gene type: protein coding

About DDX54

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:113,157,173-113,185,478 (from NCBI)

This gene has 10 transcripts (splice variants), 214 orthologues, 38 paralogues and is associated with 1 phenotype. Ubiquitous expression in kidney (RPKM 11.3), spleen (RPKM 9.8) and 25 other tissues.

Summary

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), 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 this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DDX54 Products(2)

mRNA Protein Name
NM_001111322.2 NP_001104792.1 ATP-dependent RNA helicase DDX54 isoform 1
NM_024072.4 NP_076977.3 ATP-dependent RNA helicase DDX54 isoform 2

DDX54 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (120 - 283)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (357 - 433)

DBP10CT

DBP10CT: DBP10CT (NUC160) domain (714 - 774)

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  • 881 a.a.
Protein Preferred Names Protein Names

ATP-dependent RNA helicase DDX54

ATP-dependent RNA helicase DP97

Related Diseases

Diseases Alias
Renal Hypoplasia
Febrile Seizures, Familial, 6

FEB6

Familial Febrile Seizures 6

Convulsions, Familial Febrile, 6

Familial Febrile Convulsions 6

Febrile Convulsions, Familial, 6

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
Felis catus DDX54 VGNC VGNC:61415
Mus musculus DDX54 MGD MGI:1919240
Canis familiaris DDX54 VGNC VGNC:58299
Bos taurus DDX54 VGNC VGNC:27976
Macaca mulatta DDX54 VGNC VGNC:71680
Rattus norvegicus DDX54 RGD RGD:1562539