DDX60 DExD/H-box helicase 60 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX60provided by HGNC
Official Full Name: DExD/H-box helicase 60provided by HGNC
Primary source: HGNC:HGNC:25942
See related: Ensembl:ENSG00000137628 MIM:613974; AllianceGenome:HGNC:25942
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 which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017]
Expression: Ubiquitous expression in stomach (RPKM 14.0), colon (RPKM 7.7) and 24 other tissues See more
Orthologs: all
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Genomic context

Location:: 4q32.3

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (168216294..168325979, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (171575326..171684983, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (169137445..169239903, complement)

Chromosome 4 - NC_000004.12 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?

DDX60 Promotes Migration and Invasion of Head and Neck Squamous Cell Carcinoma Cell through the NF-kappaB/IFI27 Signaling Pathway.
Title: DDX60 Promotes Migration and Invasion of Head and Neck Squamous Cell Carcinoma Cell through the NF-κB/IFI27 Signaling Pathway.
Possible involvement of DExD/H box helicase 60 in synovial inflammation of rheumatoid arthritis: role of toll-like receptor 3 signaling.
Title: Possible involvement of DExD/H box helicase 60 in synovial inflammation of rheumatoid arthritis: role of toll-like receptor 3 signaling.
Integrative Bioinformatics Analysis Identifies DDX60 as a Potential Biomarker for Systemic Lupus Erythematosus.
Title: Integrative Bioinformatics Analysis Identifies DDX60 as a Potential Biomarker for Systemic Lupus Erythematosus.
Glomerular endothelial expression of type I IFN-stimulated gene, DExD/H-Box helicase 60 via toll-like receptor 3 signaling: possible involvement in the pathogenesis of lupus nephritis.
Title: Glomerular endothelial expression of type I IFN-stimulated gene, DExD/H-Box helicase 60 via toll-like receptor 3 signaling: possible involvement in the pathogenesis of lupus nephritis.
DDX60 is a novel and unfavorable biomarker for tumorigenesis and prognosis of oral squamous cell carcinoma in a subsite-specific manner
Title: Subsite-specific association of DEAD box RNA helicase DDX60 with the development and prognosis of oral squamous cell carcinoma.
Results define DDX60 as a sentinel for cytoplasmic antiviral response, which is counteracted by virus-mediated EGF receptor activation.
Title: DDX60 Is Involved in RIG-I-Dependent and Independent Antiviral Responses, and Its Function Is Attenuated by Virus-Induced EGFR Activation.
DDX60 is a novel antiviral helicase promoting RIG-I-like receptor-mediated signaling.
Title: DDX60, a DEXD/H box helicase, is a novel antiviral factor promoting RIG-I-like receptor-mediated signaling.

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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
Vpr	vpr	HIV-1 Vpr upregulates the gene expression of DDX60 in human monocyte-derived dendritic cells	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

GDB:312794 (e-PCR)
- UniSTS:30247

NoName (e-PCR)
- UniSTS:481971

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 helicase activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to virus	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MDA-5 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of RIG-I signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to virus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: probable ATP-dependent RNA helicase DDX60

Names: ATP-dependent RNA helicase DDX60; DEAD (Asp-Glu-Ala-Asp) box polypeptide 60; DEAD box protein 60; DEAD-box helicase 60

NP_001397790.1

EC 3.6.4.13

NP_060101.3

EC 3.6.4.13

XP_011530406.1

EC 3.6.4.13

XP_016863872.1

EC 3.6.4.13

XP_016863873.1

EC 3.6.4.13

XP_024309900.1

EC 3.6.4.13

XP_024309901.1

EC 3.6.4.13

XP_054206430.1

EC 3.6.4.13

XP_054206431.1

EC 3.6.4.13

XP_054206432.1

EC 3.6.4.13

XP_054206433.1

EC 3.6.4.13

XP_054206434.1

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.

Genomic

NG_054636.2 RefSeqGene

Range

12227..114685

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001410861.1 → NP_001397790.1 probable ATP-dependent RNA helicase DDX60 isoform 2

Status: REVIEWED

Source sequence(s)

AC068989, AC093888

Consensus CDS

CCDS93666.1

UniProtKB/TrEMBL

A0A7P0T8Y0

Related

ENSP00000505292.1, ENST00000680771.1
NM_017631.6 → NP_060101.3 probable ATP-dependent RNA helicase DDX60 isoform 1

See identical proteins and their annotated locations for NP_060101.3

Status: REVIEWED

Source sequence(s)

AK001649, AK307404, BC020601, BC038115, BC074781

Consensus CDS

CCDS34097.1

UniProtKB/Swiss-Prot

Q6PK35, Q8IY21, Q9NVE3

UniProtKB/TrEMBL

A0A3G9HN97, A0A7P0TAZ7

Related

ENSP00000377344.3, ENST00000393743.8

Conserved Domains (1) summary

cl28230
Location:762 → 1373

Dob10; Superfamily II RNA helicase [Replication, recombination and repair]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

168216294..168325979 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024454132.2 → XP_024309900.1 probable ATP-dependent RNA helicase DDX60 isoform X1

UniProtKB/Swiss-Prot

Q6PK35, Q8IY21, Q9NVE3

UniProtKB/TrEMBL

A0A3G9HN97, A0A7P0TAZ7

Conserved Domains (1) summary

cl28230
Location:762 → 1373

Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
XM_024454133.2 → XP_024309901.1 probable ATP-dependent RNA helicase DDX60 isoform X1

UniProtKB/Swiss-Prot

Q6PK35, Q8IY21, Q9NVE3

UniProtKB/TrEMBL

A0A3G9HN97, A0A7P0TAZ7

Conserved Domains (1) summary

cl28230
Location:762 → 1373

Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
XM_011532104.4 → XP_011530406.1 probable ATP-dependent RNA helicase DDX60 isoform X2

UniProtKB/TrEMBL

A0A7P0TAZ7

Conserved Domains (1) summary

pfam00270
Location:768 → 922

DEAD; DEAD/DEAH box helicase
XM_017008384.2 → XP_016863873.1 probable ATP-dependent RNA helicase DDX60 isoform X4
XM_017008383.2 → XP_016863872.1 probable ATP-dependent RNA helicase DDX60 isoform X3

Related

ENST00000679744.1

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

171575326..171684983 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350456.1 → XP_054206431.1 probable ATP-dependent RNA helicase DDX60 isoform X1

UniProtKB/Swiss-Prot

Q6PK35, Q8IY21, Q9NVE3

UniProtKB/TrEMBL

A0A3G9HN97
XM_054350455.1 → XP_054206430.1 probable ATP-dependent RNA helicase DDX60 isoform X1

UniProtKB/Swiss-Prot

Q6PK35, Q8IY21, Q9NVE3

UniProtKB/TrEMBL

A0A3G9HN97
XM_054350457.1 → XP_054206432.1 probable ATP-dependent RNA helicase DDX60 isoform X2
XM_054350459.1 → XP_054206434.1 probable ATP-dependent RNA helicase DDX60 isoform X4
XM_054350458.1 → XP_054206433.1 probable ATP-dependent RNA helicase DDX60 isoform X3