DHX36 DEAH-box helicase 36 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHX36provided by HGNC
Official Full Name: DEAH-box helicase 36provided by HGNC
Primary source: HGNC:HGNC:14410
See related: Ensembl:ENSG00000174953 MIM:612767; AllianceGenome:HGNC:14410
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: G4R1; RHAU; DDX36; MLEL1
Summary: This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 24.2), thyroid (RPKM 15.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q25.2

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (154272546..154324487, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (157046825..157098745, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (153990335..154042276, complement)

Chromosome 3 - NC_000003.12 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?

Differential Gene Expression following DHX36/G4R1 Knockout Is Associated with G-Quadruplex Content and Cancer.
Title: Differential Gene Expression following DHX36/G4R1 Knockout Is Associated with G-Quadruplex Content and Cancer.
G-Quadruplexes and the DNA/RNA helicase DHX36 in health, disease, and aging.
Title: G-Quadruplexes and the DNA/RNA helicase DHX36 in health, disease, and aging.
G4-PROTAC: targeted degradation of a G-quadruplex binding protein.
Title: G4-PROTAC: targeted degradation of a G-quadruplex binding protein.
The RNA helicase DHX36-G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat-associated translation.
Title: The RNA helicase DHX36-G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat-associated translation.
The DEAH helicase DHX36 and its role in G-quadruplex-dependent processes.
Title: The DEAH helicase DHX36 and its role in G-quadruplex-dependent processes.
The DHX36-specific-motif (DSM) enhances specificity by accelerating recruitment of DNA G-quadruplex structures.
Title: The DHX36-specific-motif (DSM) enhances specificity by accelerating recruitment of DNA G-quadruplex structures.
DHX36, BAX, and ARPC1B May Be Critical for the Diagnosis and Treatment of Tuberculosis.
Title: DHX36, BAX, and ARPC1B May Be Critical for the Diagnosis and Treatment of Tuberculosis.
Recognition of different base tetrads by RHAU (DHX36): X-ray crystal structure of the G4 recognition motif bound to the 3'-end tetrad of a DNA G-quadruplex.
Title: Recognition of different base tetrads by RHAU (DHX36): X-ray crystal structure of the G4 recognition motif bound to the 3'-end tetrad of a DNA G-quadruplex.
Considering that DHX36 targets, harboring G4s, preferentially localize in stress granules, and that DHX36 KO results in increased SG formation and protein kinase R (PKR/EIF2AK2) phosphorylation, we speculate that DHX36 is involved in resolution of rG4 induced cellular stress.
Title: DHX36 prevents the accumulation of translationally inactive mRNAs with G4-structures in untranslated regions.
Study demonstrated that unlike on G4-DNA, DHX36 displays ATP-independent unfolding of G4-RNA followed by ATP-dependent refolding, generating a highly asymmetric pattern of activity. DHX36 refolds G4-RNA in several steps, reflecting the discrete steps in forming the G4 structure. The ATP-dependent activity of DHX36 arises from the RNA tail rather than the G4.
Title: RNA G-quadruplex is resolved by repetitive and ATP-dependent mechanism of DHX36.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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
Rev	rev	HIV-1 Rev interacting protein, DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with DHX36 is increased by RRE	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77472 (e-PCR)
- UniSTS:57888

SHGC-35942 (e-PCR)
- UniSTS:5923

D3S2833E (e-PCR)
- UniSTS:81201

SHGC-79130 (e-PCR)
- UniSTS:95820

D3S2960E (e-PCR)
- UniSTS:150944

D3S2897E (e-PCR)
- UniSTS:35518

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent activity, acting on DNA	IDA Inferred from Direct Assay more info	PubMed
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables G-quadruplex DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-quadruplex DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables G-quadruplex RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-quadruplex RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables G-quadruplex RNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone deacetylase binding	ISS Inferred from Sequence or Structural Similarity more info
enables mRNA 3'-UTR AU-rich region binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 5'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables pre-miRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomerase RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in 3'-UTR-mediated mRNA destabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in G-quadruplex DNA unwinding	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA secondary structure unwinding	IDA Inferred from Direct Assay more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to arsenite ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to heat	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cardioblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cytoplasmic translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of hematopoietic progenitor cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interferon-alpha production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intracellular mRNA localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mRNA 3'-end processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myeloid dendritic cell cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance via telomere lengthening	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription initiation by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mRNA stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase III	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to exogenous dsRNA	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in telomerase RNA stabilization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
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 cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in intracellular anatomical structure	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay 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
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ATP-dependent DNA/RNA helicase DHX36

Names: ATP-dependent RNA helicase DHX36; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36; DEAD/H box polypeptide 36; DEAH (Asp-Glu-Ala-His) box polypeptide 36; DEAH box protein 36; G4 resolvase-1; MLE-like protein 1; RNA helicase associated with AU-rich element ARE; RNA helicase associated with AU-rich element protein; probable ATP-dependent RNA helicase DHX36

NP_001107869.1

EC 3.6.4.12

EC 3.6.4.13

NP_065916.2

EC 3.6.4.12

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_001114397.2 → NP_001107869.1 ATP-dependent DNA/RNA helicase DHX36 isoform 2

See identical proteins and their annotated locations for NP_001107869.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1, resulting in a shorter protein (isoform 2). Isoform 2 localizes to the cytoplasm.

Source sequence(s)

AC018452, AJ577134, AK314435, BC036035

Consensus CDS

CCDS54657.1

UniProtKB/TrEMBL

B7Z8P5

Related

ENSP00000330113.5, ENST00000329463.9

Conserved Domains (5) summary

smart00487
Location:210 → 392

DEXDc; DEAD-like helicases superfamily

smart00847
Location:662 → 746

HA2; Helicase associated domain (HA2) Add an annotation

cd00046
Location:224 → 369

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:476 → 592

Helicase_C; Helicase conserved C-terminal domain

pfam07717
Location:786 → 903

OB_NTP_bind; Oligonucleotide/oligosaccharide-binding (OB)-fold
NM_020865.3 → NP_065916.2 ATP-dependent DNA/RNA helicase DHX36 isoform 1

See identical proteins and their annotated locations for NP_065916.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Isoform 1 localizes to the nucleus and cytoplasm.

Source sequence(s)

AC018452, AK314435, BC036035

Consensus CDS

CCDS3171.1

UniProtKB/Swiss-Prot

B2RB00, Q70JU3, Q8IYE5, Q9H2U1, Q9P240

UniProtKB/TrEMBL

B7Z8P5

Related

ENSP00000417078.1, ENST00000496811.6

Conserved Domains (5) summary

smart00487
Location:210 → 392

DEXDc; DEAD-like helicases superfamily

smart00847
Location:676 → 760

HA2; Helicase associated domain (HA2) Add an annotation

cd00046
Location:224 → 369

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:476 → 606

Helicase_C; Helicase conserved C-terminal domain

pfam07717
Location:800 → 917

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