DDX10 DEAD-box helicase 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX10provided by HGNC
Official Full Name: DEAD-box helicase 10provided by HGNC
Primary source: HGNC:HGNC:2735
See related: Ensembl:ENSG00000178105 MIM:601235; AllianceGenome:HGNC:2735
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: Dbp4; HRH-J8
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, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 11.2), kidney (RPKM 9.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (108665069..108940927)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (108672606..108951312)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (108535796..108811654)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

DDX10 and BYSL as the potential targets of chondrosarcoma and glioma.
Title: DDX10 and BYSL as the potential targets of chondrosarcoma and glioma.
DDX10 promotes human lung carcinoma proliferation by U3 small nucleolar ribonucleoprotein IMP4.
Title: DDX10 promotes human lung carcinoma proliferation by U3 small nucleolar ribonucleoprotein IMP4.
DEAD-box RNA helicase Dbp4/DDX10 is an enhancer of alpha-synuclein toxicity and oligomerization.
Title: DEAD-box RNA helicase Dbp4/DDX10 is an enhancer of α-synuclein toxicity and oligomerization.
[DDX10 promotes AIM2-inflammasome activation by maintaining AIM2 protein stability].
Title: [DDX10 promotes AIM2-inflammasome activation by maintaining AIM2 protein stability].
Up-regulation of DDX10 involves in poor prognosis in osteosarcoma (OS) patients and knockdown of DDX10 inhibits cell proliferation in OS. Down-regulation of DDX10 suppressed cell proliferation, invasion and migration in osteosarcoma, which might be regulated by MAPK signalling pathway.
Title: DDX10 overexpression predicts worse prognosis in osteosarcoma and its deletion prohibits cell activities modulated by MAPK pathway.
Taken together, in current study, we found a novel tumor suppressor, DDX10, is epigenetic silenced by miR-155-5p in ovarian cancer, and the down-regulated expression pattern of DDX10 promotes ovarian cancer proliferation through Akt/NF-kappaB pathway.
Title: Epigenetic down-regulated DDX10 promotes cell proliferation through Akt/NF-κB pathway in ovarian cancer.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
The 50S U3 snoRNP is an small subunit assembly intermediate that is likely recruited to the pre-rRNA through the RNA-binding proteins nucleolin and RRP5.[RRP5, DBP4]
Title: A novel small-subunit processome assembly intermediate that contains the U3 snoRNP, nucleolin, RRP5, and DBP4.
The rRNA-processing function of the yeast U14 small nucleolar RNA can be rescued by a conserved RNA helicase-like protein.
Title: The rRNA-processing function of the yeast U14 small nucleolar RNA can be rescued by a conserved RNA helicase-like protein.

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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
siRNA knockdown of DDX10 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
Knockdown of DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	siRNA knockdown of DDX10 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

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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

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D11S1818 (e-PCR)
- UniSTS:148830

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-142619 (e-PCR)
- UniSTS:182395

D11S3735 (e-PCR)
- UniSTS:152965

RH40438 (e-PCR)
- UniSTS:86175

RH80824 (e-PCR)
- UniSTS:90302

D11S2180 (e-PCR)
- UniSTS:150239

D3S1673 (e-PCR)
- UniSTS:148450

KS610 (e-PCR)
- UniSTS:253181

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	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anterior head development	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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 DDX10

Names: DDX10-NUP98 fusion protein type 2; DEAD (Asp-Glu-Ala-Asp) box polypeptide 10; DEAD box protein 10; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)

NP_004389.2

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.

Genomic

NG_046987.1 RefSeqGene

Range

5045..280903

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004398.4 → NP_004389.2 probable ATP-dependent RNA helicase DDX10

See identical proteins and their annotated locations for NP_004389.2

Status: REVIEWED

Source sequence(s)

BC091521, DC401755

Consensus CDS

CCDS8342.1

UniProtKB/Swiss-Prot

B2RCQ3, Q13206, Q5BJD8

UniProtKB/TrEMBL

A0A8I5KSH6

Related

ENSP00000314348.3, ENST00000322536.8

Conserved Domains (2) summary

COG0513
Location:50 → 518

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

cd17941
Location:80 → 277

DEADc_DDX10; DEAD-box helicase domain of DEAD box protein 10