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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA helicase activity	IDA IDA: Inferred from direct assay	12466272	GOA
enables nuclear estrogen receptor binding	IDA IDA: Inferred from direct assay	12466272	GOA
enables signaling receptor binding	IDA IDA: Inferred from direct assay	12466272	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	12466272	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in RNA metabolic process	IDA IDA: Inferred from direct assay	12466272	GOA
involved in RNA processing	IDA IDA: Inferred from direct assay	12466272	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleolus	IDA IDA: Inferred from direct assay	12466272	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12466272	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DDX54 Protein Structure

DEAD

Helicase_C

DBP10CT

0
200
400
600
800
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03659	DDX54 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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