DDX52 DExD-box helicase 52 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX52provided by HGNC
Official Full Name: DExD-box helicase 52provided by HGNC
Primary source: HGNC:HGNC:20038
See related: Ensembl:ENSG00000278053 MIM:612500; AllianceGenome:HGNC:20038
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ROK1; HUSSY19
Summary: Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 4.2), endometrium (RPKM 4.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (37609739..37643446, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (38596713..38630405, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (35969787..36003475, complement)

Chromosome 17 - NC_000017.11 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?

DDX52 gene expression in LUAD tissues indicates potential as a prognostic biomarker and therapeutic target.
Title: DDX52 gene expression in LUAD tissues indicates potential as a prognostic biomarker and therapeutic target.
Knockdown of DEAD-box RNA helicase 52 (DDX52) suppresses the proliferation of melanoma cells in vitro and of nude mouse xenografts by targeting c-Myc.
Title: Knockdown of DEAD-box RNA helicase 52 (DDX52) suppresses the proliferation of melanoma cells in vitro and of nude mouse xenografts by targeting c-Myc.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Replication interactions

Interaction	Pubs
siRNA knockdown of DDX52 decreases intra- and extra-cellular HIV CA(p24) from HeLa cells transfected with env-deleted HIV-1 plasmid, a vesicular stomatitis virus glycoprotein plasmid and specific siRNA. Resulting HIV demonstrates decreased infectivity.	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	siRNA knockdown of DDX52 decreases intra- and extra-cellular HIV CA(p24) from HeLa cells transfected with env-deleted HIV-1 plasmid, a vesicular stomatitis virus glycoprotein plasmid and specific siRNA. Resulting HIV demonstrates decreased infectivity.	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DDX52_4690 (e-PCR)
- UniSTS:462860

SHGC-57650 (e-PCR)
- UniSTS:73262

RH47071 (e-PCR)
- UniSTS:7880

STS-AA011050 (e-PCR)
- UniSTS:29683

RH103454 (e-PCR)
- UniSTS:97779

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 ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables RNA helicase activity	IEA Inferred from Electronic Annotation more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in maturation of SSU-rRNA	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: probable ATP-dependent RNA helicase DDX52

Names: DEAD (Asp-Glu-Ala-Asp) box polypeptide 52; DEAD box protein 52; DEAD-box helicase 52

NP_001278405.1

EC 3.6.4.13

NP_008941.3

EC 3.6.4.13

XP_011522535.1

EC 3.6.4.13

XP_054170786.1

EC 3.6.4.13

XP_054185203.1

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_001291476.2 → NP_001278405.1 probable ATP-dependent RNA helicase DDX52 isoform 2

See identical proteins and their annotated locations for NP_001278405.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC243585, AK001245, AK001652, AK025721, BX492013

UniProtKB/TrEMBL

B3KM65

Conserved Domains (3) summary

PRK11192
Location:54 → 491

PRK11192; ATP-dependent RNA helicase SrmB; Provisional

cd00079
Location:278 → 407

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 ...

cl21455
Location:61 → 267

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_007010.5 → NP_008941.3 probable ATP-dependent RNA helicase DDX52 isoform 1

See identical proteins and their annotated locations for NP_008941.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC243585, AK001245, AK025721, BC041785

Consensus CDS

CCDS11323.1

UniProtKB/Swiss-Prot

Q86YG1, Q8N213, Q9NVE0, Q9Y2R4, Q9Y482

UniProtKB/TrEMBL

Q59H21

Related

ENSP00000479504.1, ENST00000617633.5

Conserved Domains (1) summary

COG0513
Location:136 → 599

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

37609739..37643446 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524233.4 → XP_011522535.1 probable ATP-dependent RNA helicase DDX52 isoform X1

UniProtKB/TrEMBL

B3KM65

Conserved Domains (3) summary

COG0513
Location:10 → 293

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

cd00079
Location:146 → 275

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 ...

cl21455
Location:6 → 135

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

1848852..1882540 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054329228.1 → XP_054185203.1 probable ATP-dependent RNA helicase DDX52 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

38596713..38630405 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314811.1 → XP_054170786.1 probable ATP-dependent RNA helicase DDX52 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152300.2: Suppressed sequence

Description

NM_152300.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.