DHX32 DEAH-box helicase 32 (putative) [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHX32provided by HGNC
Official Full Name: DEAH-box helicase 32 (putative)provided by HGNC
Primary source: HGNC:HGNC:16717
See related: Ensembl:ENSG00000089876 MIM:607960; AllianceGenome:HGNC:16717
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: DDX32; DHLP1
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. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 18.2), colon (RPKM 13.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (125836337..125896485, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (126718811..126779414, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (127524906..127569861, complement)

Chromosome 10 - NC_000010.11 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: 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?

DEAH-box polypeptide 32 promotes hepatocellular carcinoma progression via activating the beta-catenin pathway.
Title: DEAH-box polypeptide 32 promotes hepatocellular carcinoma progression via activating the β-catenin pathway.
Hypoxia-induced changes in intragenic DNA methylation correlate with alternative splicing in breast cancer.
Title: Hypoxia-induced changes in intragenic DNA methylation correlate with alternative splicing in breast cancer.
DHX32 is an upstream regulator for beta-catenin, which promotes the activity of beta-catenin to upregulate expression of VEGFA in colorectal cancer cells. Depletion of DHX32 expression suppressed colorectal cancer tumor angiogenesis and tumor growth.
Title: DHX32 Promotes Angiogenesis in Colorectal Cancer Through Augmenting β-catenin Signaling to Induce Expression of VEGFA.
DHX32 may play an important role in the development of colorectal cancer and could serve as a novel biomarker for colorectal cancer after additional investigation.
Title: Up-regulation and clinical relevance of novel helicase homologue DHX32 in colorectal cancer.
In peripheral blood lymphocytes, a correlation between DHX32 and c-FLIP short expression was detected in response to different T-cell activation stimuli. Results suggest DHX32 involvement in regulating T-cell response to apoptotic stimuli.
Title: A role for DHX32 in regulating T-cell apoptosis.
Structural characterization and expression of the DDX32 gene. Expression studies show that DDX32 is widespread but specifically down-regulated in acute lymphoblastic leukemias and might play a role in normal and/or abnormal lymphopoiesis.
Title: The novel helicase homologue DDX32 is down-regulated in acute lymphoblastic leukemia.
cloned DHX32 proximal promoter and identified a 218bp fragment containing two potential binding sites for the transcription factor nuclear factor of activated T cells (NF-AT)
Title: The activation-induced expression of DHX32 in Jurkat T cells is specific and involves calcium and nuclear factor of activated T cells.
dysregulated expression of DHX32 might lead to as of yet unknown changes in mitochondrial homeostasis manifested by cytoplasmic redistribution of the molecular chaperon Hsp60
Title: Altered distribution of heat shock protein 60 (Hsp60) with dysregulated expression of DHX32.
These results suggest that DHX32 is a putative RNA helicase that might be involved in regulating nuclear and mitochondrial gene expression.
Title: Nuclear and mitochondrial localization of the putative RNA helicase DHX32.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11581 (e-PCR)
- UniSTS:69123

A004G05 (e-PCR)
- UniSTS:61739

RH44594 (e-PCR)
- UniSTS:70475

DHX32 (e-PCR)
- UniSTS:510542

D10S1398E (e-PCR)
- UniSTS:151396

SGC34496 (e-PCR)
- UniSTS:71341

G65680 (e-PCR)
- UniSTS:225472

RH98320 (e-PCR)
- UniSTS:88265

STS-AA036771 (e-PCR)
- UniSTS:66258

SHGC-33832 (e-PCR)
- UniSTS:43740

STS-AA036771 (e-PCR)
- UniSTS:54259

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 DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
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

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

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed
part_of spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32

Names: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32; DEAD/H box 32; DEAD/H helicase-like protein-1; DEAH (Asp-Glu-Ala-His) box polypeptide 32; DEAH box protein 32; huDDX32

NP_060650.2

EC 3.6.4.13

XP_047281423.1

EC 3.6.4.13

XP_047281424.1

EC 3.6.4.13

XP_047281425.1

EC 3.6.4.13

XP_047281426.1

EC 3.6.4.13

XP_054222253.1

EC 3.6.4.13

XP_054222254.1

EC 3.6.4.13

XP_054222255.1

EC 3.6.4.13

XP_054222256.1

EC 3.6.4.13

XP_054222257.1

EC 3.6.4.13

XP_054222258.1

EC 3.6.4.13

XP_054222259.1

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_018180.3 → NP_060650.2 putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32

See identical proteins and their annotated locations for NP_060650.2

Status: REVIEWED

Source sequence(s)

AL360176

Consensus CDS

CCDS7652.1

UniProtKB/Swiss-Prot

A8MSV2, D3DRF9, Q49AG5, Q5T3L0, Q5T3L5, Q7L7V1, Q96NY1, Q9BUN0, Q9H769, Q9NSL5, Q9NV74, Q9NVJ7

UniProtKB/TrEMBL

B2RD71

Related

ENSP00000284690.3, ENST00000284690.4

Conserved Domains (1) summary

COG1643
Location:12 → 679

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

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

125836337..125896485 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425470.1 → XP_047281426.1 putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 isoform X2

UniProtKB/Swiss-Prot

A8MSV2, D3DRF9, Q49AG5, Q5T3L0, Q5T3L5, Q7L7V1, Q96NY1, Q9BUN0, Q9H769, Q9NSL5, Q9NV74, Q9NVJ7
XM_047425468.1 → XP_047281424.1 putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 isoform X1
XM_047425469.1 → XP_047281425.1 putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 isoform X2

UniProtKB/Swiss-Prot

A8MSV2, D3DRF9, Q49AG5, Q5T3L0, Q5T3L5, Q7L7V1, Q96NY1, Q9BUN0, Q9H769, Q9NSL5, Q9NV74, Q9NVJ7
XM_047425467.1 → XP_047281423.1 putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 isoform X1