DDX49 DEAD-box helicase 49 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX49provided by HGNC
Official Full Name: DEAD-box helicase 49provided by HGNC
Primary source: HGNC:HGNC:18684
See related: Ensembl:ENSG00000105671 AllianceGenome:HGNC:18684
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: Dbp8; R27090_2
Summary: Enables RNA binding activity. Involved in positive regulation of cell growth and regulation of rRNA stability. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 13.3), bone marrow (RPKM 12.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18919715..18928630)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19055473..19064418)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19030524..19039439)

Chromosome 19 - NC_000019.10 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 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?

Overexpression of DDX49 in prostate cancer is associated with poor prognosis.
Title: Overexpression of DDX49 in prostate cancer is associated with poor prognosis.
DDX49 Promotes Proliferation and Metastasis of Cervical Cancer by Regulation of AKT and Wnt/beta-Catenin Signalings.
Title: DDX49 Promotes Proliferation and Metastasis of Cervical Cancer by Regulation of AKT and Wnt/β-Catenin Signalings.
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.
LncRNA SNHG20 promoted proliferation, invasion and inhibited cell apoptosis of lung adenocarcinoma via sponging miR-342 and upregulating DDX49.
Title: LncRNA SNHG20 promoted proliferation, invasion and inhibited cell apoptosis of lung adenocarcinoma via sponging miR-342 and upregulating DDX49.
Morphine may act via DDX49 to inhibit hepatocellular carcinoma cell growth.
Title: Morphine may act via DDX49 to inhibit hepatocellular carcinoma cell growth.
DDX49 is a novel biomarker and therapeutic target for lung cancer metastases.
Title: DDX49 is a novel biomarker and therapeutic target for lung cancer metastases.
DDX49 displays a robust ATPase and RNA helicase activity and it is involved in the export of poly (A)+ mRNAs to cytoplasm. DDX49 is localized in the nucleolus and regulates the steady state levels of pre-ribosomal 47S RNA and global translation.
Title: DDX49 is an RNA helicase that affects translation by regulating mRNA export and the levels of pre-ribosomal 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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Replication interactions

Interaction	Pubs
Knockdown of DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag is identified to have a physical interaction with DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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

RH11747 (e-PCR)
- UniSTS:80387

SHGC-37004 (e-PCR)
- UniSTS:12864

MARC_6357-6358:997299583:1 (e-PCR)
- UniSTS:269646

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	IDA Inferred from Direct Assay more info	PubMed
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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 positive regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of rRNA stability	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: probable ATP-dependent RNA helicase DDX49

Names: DEAD (Asp-Glu-Ala-Asp) box polypeptide 49; DEAD box protein 49

NP_061943.2

EC 3.6.4.13

XP_011526386.1

EC 3.6.4.13

XP_054177249.1

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_019070.5 → NP_061943.2 probable ATP-dependent RNA helicase DDX49

See identical proteins and their annotated locations for NP_061943.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AU148229, BC002674

Consensus CDS

CCDS12390.1

UniProtKB/Swiss-Prot

E7ENA0, Q53FJ1, Q9BVQ8, Q9Y6V7

UniProtKB/TrEMBL

A8K7A1

Related

ENSP00000247003.3, ENST00000247003.9

Conserved Domains (1) summary

COG0513
Location:1 → 467

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

RNA

NR_033677.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AU148229, BC002674, BP252678, BX647408

Related

ENST00000602113.5

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

18919715..18928630

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528084.4 → XP_011526386.1 probable ATP-dependent RNA helicase DDX49 isoform X1

See identical proteins and their annotated locations for XP_011526386.1

Conserved Domains (4) summary

COG0513
Location:1 → 360

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

cd00079
Location:111 → 244

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 ...

cl19511
Location:256 → 347

DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

cl21455
Location:1 → 99

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases