DDX24 DEAD-box helicase 24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX24provided by HGNC
Official Full Name: DEAD-box helicase 24provided by HGNC
Primary source: HGNC:HGNC:13266
See related: Ensembl:ENSG00000089737 MIM:606181; AllianceGenome:HGNC:13266
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
Summary: 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. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 90.5), adrenal (RPKM 75.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (94048287..94081202, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (88275602..88308519, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (94514633..94547548, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DDX24 Mutation Alters NPM1 Phase Behavior and Disrupts Nucleolar Homeostasis in Vascular Malformations.
Title: DDX24 Mutation Alters NPM1 Phase Behavior and Disrupts Nucleolar Homeostasis in Vascular Malformations.
DDX24 promotes metastasis by regulating RPL5 in non-small cell lung cancer.
Title: DDX24 promotes metastasis by regulating RPL5 in non-small cell lung cancer.
DExD/H Box Helicases DDX24 and DDX49 Inhibit Reactivation of Kaposi's Sarcoma Associated Herpesvirus by Interacting with Viral mRNAs.
Title: DExD/H Box Helicases DDX24 and DDX49 Inhibit Reactivation of Kaposi's Sarcoma Associated Herpesvirus by Interacting with Viral mRNAs.
RNA Helicase DDX24 Stabilizes LAMB1 to Promote Hepatocellular Carcinoma Progression.
Title: RNA Helicase DDX24 Stabilizes LAMB1 to Promote Hepatocellular Carcinoma Progression.
Identification of Prognostic RBPs in Osteosarcoma.
Title: Identification of Prognostic RBPs in Osteosarcoma.
p.Glu271Lys associated with malformations of major vessels
Title: DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera.
DDX24 is a negative regulator of p53 transcriptional activity.DDX24 inhibits p300 mediated acetylation of p53.
Title: Negative regulation of the p300-p53 interplay by DDX24.
depletion of DDX24 in cells impaired pre-rRNA processing and resulted both in abrogation of MDM2 function and in consequent p53 stabilization
Title: MDM2 mediates nonproteolytic polyubiquitylation of the DEAD-Box RNA helicase DDX24.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
knockdown of a DEAD-box protein named DDX24 inhibits the packaging of HIV-1 RNA and thus diminishes viral infectivity.
Title: The requirement of the DEAD-box protein DDX24 for the packaging of human immunodeficiency virus type 1 RNA.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed
	rev	Decreased viral RNA packaging as a result of DDX24-knockdown is observed only in the context of Rev/RRE-dependent but not CTE (constitutive transport element)-mediated nuclear export of viral RNA	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC34995 (e-PCR)
- UniSTS:5381

RH1626 (e-PCR)
- UniSTS:23567

D14S708E (e-PCR)
- UniSTS:151581

D14S798 (e-PCR)
- UniSTS:153637

D14S900 (e-PCR)
- UniSTS:48938

A002F39 (e-PCR)
- UniSTS:44091

D14S832 (e-PCR)
- UniSTS:19075

D14S667E (e-PCR)
- UniSTS:22457

RH46093 (e-PCR)
- UniSTS:46313

D14S638E (e-PCR)
- UniSTS:151543

D14S652E (e-PCR)
- UniSTS:151550

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables RNA helicase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: ATP-dependent RNA helicase DDX24

Names: DEAD (Asp-Glu-Ala-Asp) box helicase 24; DEAD (Asp-Glu-Ala-Asp) box polypeptide 24; DEAD box protein 24; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24; S. cerevisiae CHL1-like helicase

NP_065147.1

EC 3.6.4.13

NCBI Reference Sequences (RefSeq)

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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)

NM_020414.4 → NP_065147.1 ATP-dependent RNA helicase DDX24

See identical proteins and their annotated locations for NP_065147.1

Status: REVIEWED

Source sequence(s)

AL079302

Consensus CDS

CCDS9918.1

UniProtKB/Swiss-Prot

E7EMJ4, Q4V9L5, Q9GZR7

UniProtKB/TrEMBL

G3V529

Related

ENSP00000481495.1, ENST00000621632.5

Conserved Domains (3) summary

COG0513
Location:191 → 783

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

pfam00271
Location:573 → 681

Helicase_C; Helicase conserved C-terminal domain

cl21455
Location:194 → 511

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases