DHX34 DExH-box helicase 34 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHX34provided by HGNC
Official Full Name: DExH-box helicase 34provided by HGNC
Primary source: HGNC:HGNC:16719
See related: Ensembl:ENSG00000134815 MIM:615475; AllianceGenome:HGNC:16719
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: HRH1; DDX34
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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 9.0), bone marrow (RPKM 4.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (47349315..47382704)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (50174779..50208160)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (47852572..47885961)

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
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?

A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation.
Title: A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation.
Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM.
Title: Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM.
Missense mutation in DHX34 gene is associated with neurodevelopmental disorder.
Title: Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
DHX34 activates nonsense-mediated mRNA decay by functioning as a scaffold for SMG1-mediated UPF1 phosphorylation via complex formation with SMG1 and UPF1.
Title: The RNA helicase DHX34 functions as a scaffold for SMG1-mediated UPF1 phosphorylation.
DHX34 promotes mRNP remodeling and triggers the conversion from the SURF complex to the DECID complex resulting in NMD activation.
Title: The RNA helicase DHX34 activates NMD by promoting a transition from the surveillance to the decay-inducing complex.
DHX34 and NBAS act in concert with core nonsense-mediated mRNA decay factors to co-regulate a large number of endogenous RNA targets.
Title: DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans.

Submit: New GeneRIF Correction

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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

RH68396 (e-PCR)
- UniSTS:9804

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

RH25357 (e-PCR)
- UniSTS:91581

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IEA Inferred from Electronic Annotation 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 helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex 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 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: probable ATP-dependent RNA helicase DHX34

Names: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34; DEAH (Asp-Glu-Ala-His) box polypeptide 34; DEAH box protein 34; DEAH-box helicase 34; probable ATP-dependent helicase DHX34

NP_055496.2

EC 3.6.4.13

XP_005259500.1

EC 3.6.4.13

XP_011525852.1

EC 3.6.4.13

XP_011525853.1

EC 3.6.4.13

XP_047295715.1

EC 3.6.4.13

XP_047295716.1

EC 3.6.4.13

XP_047295717.1

EC 3.6.4.13

XP_047295718.1

EC 3.6.4.13

XP_054178724.1

EC 3.6.4.13

XP_054178725.1

EC 3.6.4.13

XP_054178726.1

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_014681.6 → NP_055496.2 probable ATP-dependent RNA helicase DHX34

See identical proteins and their annotated locations for NP_055496.2

Status: REVIEWED

Source sequence(s)

AK297692, BI826597, BU732557, CF125648, CN307402, DR762320

Consensus CDS

CCDS12700.1

UniProtKB/Swiss-Prot

B4DMY8, Q14147

Related

ENSP00000331907.4, ENST00000328771.9

Conserved Domains (5) summary

smart00490
Location:410 → 496

HELICc; helicase superfamily c-terminal domain

smart00847
Location:565 → 645

HA2; Helicase associated domain (HA2) Add an annotation

COG1643
Location:154 → 686

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd00046
Location:179 → 314

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.

pfam07717
Location:791 → 911

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

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

47349315..47382704

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047439759.1 → XP_047295715.1 probable ATP-dependent RNA helicase DHX34 isoform X1

UniProtKB/Swiss-Prot

B4DMY8, Q14147
XM_047439760.1 → XP_047295716.1 probable ATP-dependent RNA helicase DHX34 isoform X1

UniProtKB/Swiss-Prot

B4DMY8, Q14147
XM_011527550.3 → XP_011525852.1 probable ATP-dependent RNA helicase DHX34 isoform X1

See identical proteins and their annotated locations for XP_011525852.1

UniProtKB/Swiss-Prot

B4DMY8, Q14147

Conserved Domains (5) summary

smart00490
Location:410 → 496

HELICc; helicase superfamily c-terminal domain

smart00847
Location:565 → 645

HA2; Helicase associated domain (HA2) Add an annotation

COG1643
Location:154 → 686

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd00046
Location:179 → 314

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.

pfam07717
Location:791 → 911

OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
XM_011527551.3 → XP_011525853.1 probable ATP-dependent RNA helicase DHX34 isoform X1

See identical proteins and their annotated locations for XP_011525853.1

UniProtKB/Swiss-Prot

B4DMY8, Q14147

Conserved Domains (5) summary

smart00490
Location:410 → 496

HELICc; helicase superfamily c-terminal domain

smart00847
Location:565 → 645

HA2; Helicase associated domain (HA2) Add an annotation

COG1643
Location:154 → 686

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd00046
Location:179 → 314

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.

pfam07717
Location:791 → 911

OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
XM_005259443.4 → XP_005259500.1 probable ATP-dependent RNA helicase DHX34 isoform X1

See identical proteins and their annotated locations for XP_005259500.1

UniProtKB/Swiss-Prot

B4DMY8, Q14147

Related

ENSP00000520696.1, ENST00000718252.1

Conserved Domains (5) summary

smart00490
Location:410 → 496

HELICc; helicase superfamily c-terminal domain

smart00847
Location:565 → 645

HA2; Helicase associated domain (HA2) Add an annotation

COG1643
Location:154 → 686

HrpA; HrpA-like RNA helicase [Translation, ribosomal structure and biogenesis]

cd00046
Location:179 → 314

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.

pfam07717
Location:791 → 911

OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
XM_047439761.1 → XP_047295717.1 probable ATP-dependent RNA helicase DHX34 isoform X2
XM_047439762.1 → XP_047295718.1 probable ATP-dependent RNA helicase DHX34 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

50174779..50208160

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322750.1 → XP_054178725.1 probable ATP-dependent RNA helicase DHX34 isoform X2
XM_054322749.1 → XP_054178724.1 probable ATP-dependent RNA helicase DHX34 isoform X1
XM_054322751.1 → XP_054178726.1 probable ATP-dependent RNA helicase DHX34 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_194428.1: Suppressed sequence

Description

NM_194428.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.