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DDX54 DEAD-box helicase 54 [ Homo sapiens (human) ]

Gene ID: 79039, updated on 1-Jun-2020

Summary

Official Symbol
DDX54provided by HGNC
Official Full Name
DEAD-box helicase 54provided by HGNC
Primary source
HGNC:HGNC:20084
See related
Ensembl:ENSG00000123064 MIM:611665
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DP97
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]
Expression
Ubiquitous expression in kidney (RPKM 11.3), spleen (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See DDX54 in Genome Data Viewer
Location:
12q24.13
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (113157173..113185478, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113594978..113623284, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a pseudogene 32 Neighboring gene deltex E3 ubiquitin ligase 1 Neighboring gene RAS protein activator like 1 Neighboring gene cilia and flagella associated protein 73 Neighboring gene microRNA 7106 Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene IQ motif containing D

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2835

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
estrogen receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
signaling receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
RNA metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
RNA processing IDA
Inferred from Direct Assay
more info
PubMed 
intracellular estrogen receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATP-dependent RNA helicase DDX54
Names
ATP-dependent RNA helicase DP97
DEAD (Asp-Glu-Ala-Asp) box polypeptide 54
DEAD box RNA helicase 97 kDa
DEAD box helicase 97 KDa
DEAD box protein 54
NP_001104792.1
NP_076977.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001111322.2NP_001104792.1  ATP-dependent RNA helicase DDX54 isoform 1

    See identical proteins and their annotated locations for NP_001104792.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF478457, BC005848
    Consensus CDS
    CCDS44984.1
    UniProtKB/Swiss-Prot
    Q8TDD1
    Related
    ENSP00000323858.7, ENST00000314045.11
    Conserved Domains (4) summary
    PRK01297
    Location:1469
    PRK01297; ATP-dependent RNA helicase RhlB; Provisional
    cd00079
    Location:315441
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    cd00268
    Location:98300
    DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...
    pfam08147
    Location:714774
    DBP10CT; DBP10CT (NUC160) domain
  2. NM_024072.4NP_076977.3  ATP-dependent RNA helicase DDX54 isoform 2

    See identical proteins and their annotated locations for NP_076977.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AF478457, BC005848
    Consensus CDS
    CCDS31907.1
    UniProtKB/Swiss-Prot
    Q8TDD1
    Related
    ENSP00000304072.5, ENST00000306014.9
    Conserved Domains (4) summary
    PRK01297
    Location:1469
    PRK01297; ATP-dependent RNA helicase RhlB; Provisional
    cd00079
    Location:315441
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    cd00268
    Location:98300
    DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...
    pfam08147
    Location:714774
    DBP10CT; DBP10CT (NUC160) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    113157173..113185478 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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