DHX29 DExH-box helicase 29 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHX29provided by HGNC
Official Full Name: DExH-box helicase 29provided by HGNC
Primary source: HGNC:HGNC:15815
See related: Ensembl:ENSG00000067248 MIM:612720; AllianceGenome:HGNC:15815
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: DDX29
Summary: This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]
Expression: Ubiquitous expression in thyroid (RPKM 12.7), prostate (RPKM 10.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (55256055..55307694, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (56083337..56135001, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (54551883..54603522, complement)

Chromosome 5 - NC_000005.10 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 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?

5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.
Title: 5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.
Functional role and ribosomal position of the unique N-terminal region of DHX29, a factor required for initiation on structured mammalian mRNAs.
Title: Functional role and ribosomal position of the unique N-terminal region of DHX29, a factor required for initiation on structured mammalian mRNAs.
A critical role for DHX29 in innate immune response; molecular insights into the mechanisms by which DHX29 recognizes 5' structured EMCV RNA and interacts with MDA5 for potent type I interferon signaling and antiviral immunity.
Title: DHX29 functions as an RNA co-sensor for MDA5-mediated EMCV-specific antiviral immunity.
DHX29 and eIF3 cooperate in scanning on structured mRNAs. Our findings support previous genetic data on the role of eIF3 during scanning
Title: DHX29 and eIF3 cooperate in ribosomal scanning on structured mRNAs during translation initiation.
DHX29 is another example of an initiation factor contributing to start codon selection.
Title: DHX29 reduces leaky scanning through an upstream AUG codon regardless of its nucleotide context.
Helicase proteins DHX29 and RIG-I cosense cytosolic nucleic acids in the human airway system.
Title: Helicase proteins DHX29 and RIG-I cosense cytosolic nucleic acids in the human airway system.
Roles of individual domains in the function of DHX29, an essential factor required for translation of structured mammalian mRNAs.
Title: Roles of individual domains in the function of DHX29, an essential factor required for translation of structured mammalian mRNAs.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Down-regulation of DHX29 leads to impaired translation, resulting in disassembly of polysomes and accumulation of mRNA-free 80S monomers. DHX29 depletion also impedes cancer cell growth in culture and in xenografts.
Title: The helicase protein DHX29 promotes translation initiation, cell proliferation, and tumorigenesis.
Study reports that these 7 eIFs are not sufficient for efficient 48S complex formation on mRNAs with highly structured 5'UTRs, and that this process requires the DExH-box protein DHX29.
Title: Translation initiation on mammalian mRNAs with structured 5'UTRs requires DExH-box protein DHX29.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14214 (e-PCR)
- UniSTS:62895

WI-17946 (e-PCR)
- UniSTS:21427

RH81061 (e-PCR)
- UniSTS:90095

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 binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IEA Inferred from Electronic Annotation more info
enables cadherin binding	HDA more info	PubMed
enables helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribonucleoside triphosphate phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ribosomal small subunit binding	IDA Inferred from Direct Assay more info	PubMed
enables translation activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables translation initiation factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in formation of translation preinitiation complex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of translational initiation	IEA Inferred from Electronic Annotation more info
involved_in ribosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of cytosolic small ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of eukaryotic 43S preinitiation complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP-dependent RNA helicase DHX29

Names: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29; DEAH (Asp-Glu-Ala-His) box polypeptide 29; DEAH box protein 29; DEAH-box helicase 29; nucleic acid helicase DDXx

NP_001332893.1

EC 3.6.4.13

NP_001332894.1

EC 3.6.4.13

NP_061903.2

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_051592.1 RefSeqGene

Range

5029..56668

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001345964.2 → NP_001332893.1 ATP-dependent RNA helicase DHX29 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC020728, AC026704, AL834496

UniProtKB/Swiss-Prot

Q7Z478
NM_001345965.2 → NP_001332894.1 ATP-dependent RNA helicase DHX29 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate translation start site compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AL834496, BX649135

UniProtKB/Swiss-Prot

Q7Z478

Related

ENST00000504778.5

Conserved Domains (1) summary

COG1643
Location:21 → 681

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]
NM_019030.4 → NP_061903.2 ATP-dependent RNA helicase DHX29 isoform 1

See identical proteins and their annotated locations for NP_061903.2

Status: REVIEWED

Description

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

Source sequence(s)

AL834496, AY036974, BX649135, DB122058

Consensus CDS

CCDS34158.1

UniProtKB/Swiss-Prot

O75549, Q63HN0, Q63HN3, Q7Z478, Q8IWW2, Q8N3A1, Q9UMH2

Related

ENSP00000251636.5, ENST00000251636.10

Conserved Domains (5) summary

smart00487
Location:578 → 764

DEXDc; DEAD-like helicases superfamily

smart00847
Location:1056 → 1137

HA2; Helicase associated domain (HA2) Add an annotation

cd00046
Location:589 → 736

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

pfam00271
Location:847 → 985

Helicase_C; Helicase conserved C-terminal domain

pfam07717
Location:1179 → 1302

OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold

RNA

NR_144323.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, resulting in a longer transcript compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC020728, AC026704, AL834496
NR_144324.2 RNA Sequence

Status: REVIEWED

Description

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

Source sequence(s)

AC020728, AC026704, AL834496
NR_144325.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses two alternate splice sites in internal exons, resulting in a shorter transcript compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC020728, AC026704, AL834496