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DHX36 - DEAH-box helicase 36 Gene

Also Known as G4R1; RHAU; DDX36; MLEL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 170506

About DHX36

Cytogenetic location: 3q25.2 Genomic coordinates (GRCh38): 3:154,272,546-154,324,487 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 203 orthologues and 18 paralogues. Ubiquitous expression in testis (RPKM 24.2), thyroid (RPKM 15.5) and 25 other tissues.

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]

DHX36 Products (2)

mRNA	Protein	Name
NM_001114397.2	NP_001107869.1	ATP-dependent DNA/RNA helicase DHX36 isoform 2
NM_020865.3	NP_065916.2	ATP-dependent DNA/RNA helicase DHX36 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP-dependent activity, acting on DNA	IDA IDA: Inferred from direct assay	21586581	GOA
enables DNA helicase activity	IDA IDA: Inferred from direct assay	16150737	GOA
enables G-quadruplex DNA binding	IDA IDA: Inferred from direct assay	16150737	GOA
enables G-quadruplex RNA binding	IDA IDA: Inferred from direct assay	18842585	GOA
enables G-quadruplex RNA binding	IMP IMP: Inferred from mutant phenotype	22238380	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	18854321	GOA
enables RNA helicase activity	IDA IDA: Inferred from direct assay	14731398	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	21586581	GOA
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	21266579	GOA
enables mRNA 3'-UTR AU-rich region binding	IDA IDA: Inferred from direct assay	14731398	GOA
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	24369427	GOA
enables mRNA 5'-UTR binding	IDA IDA: Inferred from direct assay	26489465	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	16150737	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14731398	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	20696886	GOA
enables telomerase RNA binding	IDA IDA: Inferred from direct assay	21149580	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in 3'-UTR-mediated mRNA destabilization	IMP IMP: Inferred from mutant phenotype	26489465	GOA
involved in G-quadruplex DNA unwinding	IDA IDA: Inferred from direct assay	16150737	GOA
involved in RNA secondary structure unwinding	IDA IDA: Inferred from direct assay	18842585	GOA
involved in cellular response to UV	IMP IMP: Inferred from mutant phenotype	27940037	GOA
involved in cellular response to arsenite ion	IDA IDA: Inferred from direct assay	18854321	GOA
involved in cellular response to heat	IDA IDA: Inferred from direct assay	18854321	GOA
involved in negative regulation of translation	IDA IDA: Inferred from direct assay	24369427	GOA
involved in positive regulation of cytoplasmic translation	IMP IMP: Inferred from mutant phenotype	26489465	GOA
involved in positive regulation of interferon-alpha production	IMP IMP: Inferred from mutant phenotype	20696886	GOA
involved in positive regulation of mRNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	27940037	GOA
involved in positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IMP IMP: Inferred from mutant phenotype	14731398	GOA
involved in positive regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	22238380	GOA
involved in positive regulation of telomere maintenance via telomere lengthening	IMP IMP: Inferred from mutant phenotype	21149580	GOA
involved in positive regulation of transcription initiation by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	21993297	GOA
involved in regulation of mRNA stability	IMP IMP: Inferred from mutant phenotype	18279852	GOA
involved in regulation of transcription by RNA polymerase III	IMP IMP: Inferred from mutant phenotype	18279852	GOA
involved in telomerase RNA stabilization	IDA IDA: Inferred from direct assay	22238380	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	20472641	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	14731398	GOA
located in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	18854321	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	18279852	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14731398	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHX36 Protein Structure

DEAD

Helicase_C

HA2

OB_NTP_bind

0
200
400
600
800
1008 a.a.

Protein Preferred Names	Protein Names
ATP-dependent DNA/RNA helicase DHX36	ATP-dependent RNA helicase DHX36

Related Diseases

Diseases	Alias
Dyskeratosis Congenita, Autosomal Recessive 5	Dyskeratosis Congenita, Autosomal Dominant, 4 DKCB5 Autosomal Dominant Dyskeratosis Congenita 4 DKCA4 Autosomal Recessive Dyskeratosis Congenita 5 Dyskeratosis Congenita, Autosomal Recessive, 5 Dyskeratosis Congenita, Autosomal Dominant 4 Dyskeratosis Congenita, Autosomal Recessive, Type 5
Fanconi Anemia, Complementation Group J	Fanconi Anemia Complementation Group J FANCJ
Aicardi-Goutieres Syndrome	Aicardi Goutieres Syndrome Cree Encephalitis Aicardi-Goutières Syndrome Encephalopathy With Basal Ganglia Calcification Ags Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid Pseudotoxoplasmosis Syndrome Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis Aicardi-Goutieres Syndrome 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-181850	Telomeric G4s ligand 2		/	Unkown
HY-RS03755	DHX36 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-185723	rG4 WT_AHPC_PEG2		99.80%	Unkown
HY-185724	rG4 mut_AHPC_PEG2	Control	96.87%	Unkown
HY-RS19675	Dhx36 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26168	Dhx36 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DHX36	VGNC	VGNC:28054
Macaca mulatta	DHX36	VGNC	VGNC:71623
Rattus norvegicus	DHX36	RGD	RGD:1308767
Mus musculus	DHX36	MGD	MGI:1919412
Felis catus	DHX36	VGNC	VGNC:61481
Canis familiaris	DHX36	VGNC	VGNC:39946
Others	DHX36	NCBI