DDX17 DEAD-box helicase 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX17provided by HGNC
Official Full Name: DEAD-box helicase 17provided by HGNC
Primary source: HGNC:HGNC:2740
See related: Ensembl:ENSG00000100201 MIM:608469; AllianceGenome:HGNC:2740
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: P72; RH70
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 splicesosome 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 is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011]
Expression: Ubiquitous expression in spleen (RPKM 144.6), endometrium (RPKM 136.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (38483438..38506311, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38947707..38970570, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38879443..38902316, complement)

Chromosome 22 - NC_000022.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Helicases DDX5 and DDX17 promote heterogeneity in HBV transcription termination in infected human hepatocytes.
Title: Helicases DDX5 and DDX17 promote heterogeneity in HBV transcription termination in infected human hepatocytes.
[circDDX17 targets miR-223-3p / RIP3 to regulate the proliferation and apoptosis of non-small cell lung cancer cells].
Title: [circDDX17 targets miR-223-3p / RIP3 to regulate the proliferation and apoptosis of non-small cell lung cancer cells].
LncRNA FAM225B Regulates PDIA4-Mediated Ovarian Cancer Cell Invasion and Migration via Modulating Transcription Factor DDX17.
Title: LncRNA FAM225B Regulates PDIA4-Mediated Ovarian Cancer Cell Invasion and Migration via Modulating Transcription Factor DDX17.
DDX17 modulates the expression and alternative splicing of genes involved in apoptosis and proliferation in lung adenocarcinoma cells.
Title: DDX17 modulates the expression and alternative splicing of genes involved in apoptosis and proliferation in lung adenocarcinoma cells.
MTDH-stabilized DDX17 promotes tumor initiation and progression through interacting with YB1 to induce EGFR transcription in Hepatocellular Carcinoma.
Title: MTDH-stabilized DDX17 promotes tumor initiation and progression through interacting with YB1 to induce EGFR transcription in Hepatocellular Carcinoma.
DDX17 induces epithelial-mesenchymal transition and metastasis through the miR-149-3p/CYBRD1 pathway in colorectal cancer.
Title: DDX17 induces epithelial-mesenchymal transition and metastasis through the miR-149-3p/CYBRD1 pathway in colorectal cancer.
DDX17 helicase promotes resolution of R-loop-mediated transcription-replication conflicts in human cells.
Title: DDX17 helicase promotes resolution of R-loop-mediated transcription-replication conflicts in human cells.
DDX17 is required for efficient DSB repair at DNA:RNA hybrid deficient loci.
Title: DDX17 is required for efficient DSB repair at DNA:RNA hybrid deficient loci.
DDX17-regulated alternative splicing that produced an oncogenic isoform of PXN-AS1 to promote HCC metastasis.
Title: DDX17-regulated alternative splicing that produced an oncogenic isoform of PXN-AS1 to promote HCC metastasis.
DDX17 is involved in DNA damage repair and modifies FUS toxicity in an RGG-domain dependent manner.
Title: DDX17 is involved in DNA damage repair and modifies FUS toxicity in an RGG-domain dependent manner.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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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 DDX17 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
siRNA knockdown of DDX17 reduced HIV-1 infectivity by 5 times and the extracelluar (supernatant) CA (p24) by a smiliar reduction without affecting the intracellular HIV-1 Gag levels	PubMed
Knockdown of DDX17 by siRNA or shRNA inhibits HIV-1 production in HeLa cells and infectivity in TZM-bl cells	PubMed
Knockdown of DDX17 by siRNA decreases the levels of total unspliced and spliced mRNAs, and results in reduction of HIV-1 production	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box helicase 17 (DDX17), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Overexpression of DDX17 DQAD leads to a decrease in frameshift efficiency, suggesting that the helicase activity of DDX17 is involved in maintaining the proper ratio of Gag-Pol expression required for optimal infectivity	PubMed
	gag-pol	Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box helicase 17 (DDX17), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box helicase 17 (DDX17), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	HIV-1 Gag interacts with DDX17 as demonstrated by proximity dependent biotinylation proteomics and validated via immunoprecipitation and western blot analysis	PubMed
	gag	siRNA knockdown of DDX17 DOES NOT affect intracellular Gag levels but does decrease extracellular (supernatant) CA (p24) levels upon HIV-1 infection	PubMed
	gag	Expression of DDX17 DQAD mutant decreases the amount of HIV-1 CA but not Gag, suggesting that the mutant inhibits Gag processing	PubMed
	gag	Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box helicase 17 (DDX17), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Rev	rev	Coexpression of HIV-1 Rev with DDX17 greatly upregulate the expression of HIV-1 CA in HeLa cells	PubMed
	rev	DDX17 interacts with HIV-1 Rev and enhances the Rev function. DDX17 partially co-localizes with Rev in the nucleolus	PubMed
	rev	HIV-1 Rev interacting protein, DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with DDX17 is increased by RRE	PubMed
Tat	tat	DEAD (Asp-Glu-Ala-Asp) box helicase 17 (DDX17) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed
capsid	gag	siRNA knockdown of DDX17 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
	gag	siRNA knockdown of DDX17 decreases extracellular (supernatant) CA (p24) levels upon HIV-1 infection BUT DOES NOT affect intracellular Gag levels	PubMed
	gag	Coexpression of HIV-1 Rev with DDX17 greatly upregulate the expression of HIV-1 CA in HeLa cells	PubMed
	gag	Expression of DDX17 DQAD mutant decreases the amount of HIV-1 CA but not Gag, suggesting that the mutant inhibits Gag processing	PubMed
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human DEAD (Asp-Glu-Ala-Asp) box helicase 17 (DDX17) at amino acid residues 573-574 by the HIV-1 protease	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

1574 (e-PCR)
- UniSTS:60449

G20426 (e-PCR)
- UniSTS:70692

SHGC-132664 (e-PCR)
- UniSTS:185380

A005Q45 (e-PCR)
- UniSTS:70693

D22S996E (e-PCR)
- UniSTS:27685

D22S292E (e-PCR)
- UniSTS:7213

D22S292E (e-PCR)
- UniSTS:7214

G29202 (e-PCR)
- UniSTS:64830

RH28487 (e-PCR)
- UniSTS:88928

D15H22S314E (e-PCR), detects polymorphism
- UniSTS:88928

SHGC-37043 (e-PCR)
- UniSTS:38521

A007C15 (e-PCR)
- UniSTS:47742

D22S1199 (e-PCR)
- UniSTS:45963

D22S292E (e-PCR)
- UniSTS:89488

D22S1255 (e-PCR)
- UniSTS:32665

STS-N22684 (e-PCR)
- UniSTS:72617

A004C33 (e-PCR)
- UniSTS:69553

STS-W80852 (e-PCR)
- UniSTS:52409

RH76347 (e-PCR)
- UniSTS:84939

D22S314E (e-PCR)
- UniSTS:2772

DDX17 (e-PCR)
- UniSTS:506327

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 ATP-dependent activity, acting on RNA	TAS Traceable Author Statement more info	PubMed
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor 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
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA processing	TAS Traceable Author Statement more info	PubMed
involved_in alternative mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in androgen receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in estrogen receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune system process	IEA Inferred from Electronic Annotation more info
involved_in miRNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in regulation of alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulatory ncRNA-mediated gene silencing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: probable ATP-dependent RNA helicase DDX17

Names: DEAD (Asp-Glu-Ala-Asp) box helicase 17; DEAD (Asp-Glu-Ala-Asp) box polypeptide 17; DEAD box protein p72; DEAD box protein p82; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD); RNA-dependent helicase p72; p72 RNA helicase

NP_001091974.1

EC 3.6.4.13

NP_006377.2

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_029642.1 RefSeqGene

Range

5030..27903

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001098504.2 → NP_001091974.1 probable ATP-dependent RNA helicase DDX17 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses a different donor splice site (6 nt downstream) in the penultimate coding exon, but initiates translation from the same non-AUG (CUG) codon as transcript variant 1, resulting in an isoform (3) that is 2 aa longer than isoform 1. Alternate translation from an in-frame, downstream AUG yields a shorter isoform.

Source sequence(s)

AB209595, AK024985, AL080113, BP353248, CB215934, Z97056

Consensus CDS

CCDS46706.1

UniProtKB/TrEMBL

A0A1X7SBZ2, A0A5H1ZRQ2

Related

ENSP00000380033.4, ENST00000396821.8

Conserved Domains (3) summary

smart00487
Location:191 → 393

DEXDc; DEAD-like helicases superfamily

cd00079
Location:389 → 521

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 ...

cd00268
Location:173 → 378

DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...
NM_006386.5 → NP_006377.2 probable ATP-dependent RNA helicase DDX17 isoform 1 precursor

See identical proteins and their annotated locations for NP_006377.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1 (also known as p82) through the use of a non-AUG (CUG) translation initiation codon. Alternate translation from an in-frame, downstream AUG results in a shorter isoform (known as p72).

Source sequence(s)

AK024985, AL080113, BP353248, CB215934, Z97056

Consensus CDS

CCDS33646.1

UniProtKB/Swiss-Prot

B1AHM0, H3BLZ8, Q69YT1, Q6ICD6, Q92841

UniProtKB/TrEMBL

A0A1X7SBZ2

Related

ENSP00000385536.2, ENST00000403230.3

Conserved Domains (3) summary

smart00487
Location:191 → 393

DEXDc; DEAD-like helicases superfamily

cd00079
Location:389 → 521

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 ...

cd00268
Location:173 → 378

DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...

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_000022.11 Reference GRCh38.p14 Primary Assembly

Range

38483438..38506311 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

38947707..38970570 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001098505.1: Suppressed sequence

Description

NM_001098505.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_030881.3: Suppressed sequence

Description

NM_030881.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.