Human_Genes_Functions
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Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

DHX36

DHX36

protein_coding 3 154,271,823 - 154,324,991 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000174953
Gene type
protein_coding
Chromosome
3
Coordinates
154,271,823 - 154,324,991
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

170506 CCDS3171 CCDS54657 DDX36 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36 DEAH (Asp-Glu-Ala-His) box polypeptide 36 ENST00000496811.6 KIAA1488 MLEL1 NM_020865 NM_020865.3 Q9H2U1 RHAU RNA helicase associated with AU-rich element

Summary

GENCODE gene_type=protein_coding; HGNC symbol=DHX36; HGNC name=DEAH-box helicase 36; alias_count=14; RefSeq=NM_020865; UniProt=Q9H2U1; MANE Select=ENST00000496811.6,NM_020865.3

Source: GENCODE + HGNC complete set

170506 • protein-coding

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]

NCBI Gene

UniProt

Q9H2U1 • reviewed

Multifunctional ATP-dependent helicase that unwinds G-quadruplex (G4) structures (PubMed:16150737, PubMed:18854321, PubMed:20472641, PubMed:21586581). Plays a role in many biological processes such as genomic integrity, gene expression regulations and as a sensor to initiate antiviral responses (PubMed:14731398, PubMed:18279852, PubMed:21993297, PubMed:22238380, PubMed:25579584). G4 structures correspond to helical structures containing guanine tetrads (By similarity). Binds with high affinity to and unwinds G4 structures that are formed in nucleic acids (G4-DNA and G4-RNA) (PubMed:16150737, PubMed:18842585, PubMed:20472641, PubMed:21586581, PubMed:24369427, PubMed:26195789). Plays a role in genomic integrity (PubMed:22238380). Converts the G4-RNA structure present in telomerase RNA template component (TREC) into a double-stranded RNA to promote P1 helix formation that acts as a template boundary ensuring accurate reverse transcription (PubMed:20472641, PubMed:21149580, PubMed:21846770, PubMed:22238380, PubMed:24151078, PubMed:25579584). Plays a role in transcriptional regulation (PubMed:21586581, PubMed:21993297). Resolves G4-DNA structures in promoters of genes, such as YY1, KIT/c-kit and ALPL and positively regulates their expression (PubMed:21993297). Plays a role in post-transcriptional regulation (PubMed:27940037). Unwinds a G4-RNA structure located in the 3'-UTR polyadenylation site of the pre-mRNA TP53 and stimulates TP53 pre-mRNA 3'-end processing in response to ultraviolet (UV)-induced DNA damage (PubMed:27940037). Binds to the precursor-microRNA-134 (pre-miR-134) terminal loop and regulates its transport into the synapto-dendritic compartment (By similarity). Involved in the pre-miR-134-dependent inhibition of target gene expression and the control of dendritic spine size (By similarity). Plays a role in the regulation of cytoplasmic mRNA translation and mRNA stability (PubMed:24369427, PubMed:26489465). Binds to both G4-RNA structures and alternative non-quadruplex-forming sequence within the 3'-UTR of the PITX1 mRNA regulating negatively PITX1 protein expression (PubMed:24369427). Binds to both G4-RNA structure in the 5'-UTR and AU-rich elements (AREs) localized in the 3'-UTR of NKX2-5 mRNA to either stimulate protein translation or induce mRNA decay in an ELAVL1-dependent manner, respectively (PubMed:26489465). Also binds to ARE sequences present in several mRNAs mediating exosome-mediated 3'-5' mRNA degradation (PubMed:14731398, PubMed:18279852). Involved in cytoplasmic urokinase-type plasminogen activator (uPA) mRNA decay (PubMed:14731398). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of pro-inflammatory cytokines via the adapter molecule TICAM1 (By similarity). Required for early embryonic development and hematopoiesis. Involved in the regulation of cardioblast differentiation and proliferation during heart development. Involved in spermatogonia differentiation. May play a role in ossification (By similarity)

ATP-dependent DNA/RNA helicase DHX36 · Nucleus; Cytoplasm; Cytoplasm, cytosol; Cytoplasm, Stress granule; Nucleus speckle; Chromosome, telomere; Mitochondrion; Perikaryon; Cell projection, dendrite; Cell projection, axon · EC 3.6.4.12; 3.6.4.13

Q9H2U1 • reviewed

Multifunctional ATP-dependent helicase that unwinds G-quadruplex (G4) structures (PubMed:16150737, PubMed:18854321, PubMed:20472641, PubMed:21586581). Plays a role in many biological processes such as genomic integrity, gene expression regulations and as a sensor to initiate antiviral responses (PubMed:14731398, PubMed:18279852, PubMed:21993297, PubMed:22238380, PubMed:25579584). G4 structures correspond to helical structures containing guanine tetrads (By similarity). Binds with high affinity to and unwinds G4 structures that are formed in nucleic acids (G4-DNA and G4-RNA) (PubMed:16150737, PubMed:18842585, PubMed:20472641, PubMed:21586581, PubMed:24369427, PubMed:26195789). Plays a role in genomic integrity (PubMed:22238380). Converts the G4-RNA structure present in telomerase RNA template component (TREC) into a double-stranded RNA to promote P1 helix formation that acts as a template boundary ensuring accurate reverse transcription (PubMed:20472641, PubMed:21149580, PubMed:21846770, PubMed:22238380, PubMed:24151078, PubMed:25579584). Plays a role in transcriptional regulation (PubMed:21586581, PubMed:21993297). Resolves G4-DNA structures in promoters of genes, such as YY1, KIT/c-kit and ALPL and positively regulates their expression (PubMed:21993297). Plays a role in post-transcriptional regulation (PubMed:27940037). Unwinds a G4-RNA structure located in the 3'-UTR polyadenylation site of the pre-mRNA TP53 and stimulates TP53 pre-mRNA 3'-end processing in response to ultraviolet (UV)-induced DNA damage (PubMed:27940037). Binds to the precursor-microRNA-134 (pre-miR-134) terminal loop and regulates its transport into the synapto-dendritic compartment (By similarity). Involved in the pre-miR-134-dependent inhibition of target gene expression and the control of dendritic spine size (By similarity). Plays a role in the regulation of cytoplasmic mRNA translation and mRNA stability (PubMed:24369427, PubMed:26489465). Binds to both G4-RNA structures and alternative non-quadruplex-forming sequence within the 3'-UTR of the PITX1 mRNA regulating negatively PITX1 protein expression (PubMed:24369427). Binds to both G4-RNA structure in the 5'-UTR and AU-rich elements (AREs) localized in the 3'-UTR of NKX2-5 mRNA to either stimulate protein translation or induce mRNA decay in an ELAVL1-dependent manner, respectively (PubMed:26489465). Also binds to ARE sequences present in several mRNAs mediating exosome-mediated 3'-5' mRNA degradation (PubMed:14731398, PubMed:18279852). Involved in cytoplasmic urokinase-type plasminogen activator (uPA) mRNA decay (PubMed:14731398). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of pro-inflammatory cytokines via the adapter molecule TICAM1 (By similarity). Required for early embryonic development and hematopoiesis. Involved in the regulation of cardioblast differentiation and proliferation during heart development. Involved in spermatogonia differentiation. May play a role in ossification (By similarity)

ATP-dependent DNA/RNA helicase DHX36 · Nucleus; Cytoplasm; Cytoplasm, cytosol; Cytoplasm, Stress granule; Nucleus speckle; Chromosome, telomere; Mitochondrion; Perikaryon; Cell projection, dendrite; Cell projection, axon · EC 3.6.4.12; 3.6.4.13

Q9H2U1 • reviewed

Multifunctional ATP-dependent helicase that unwinds G-quadruplex (G4) structures (PubMed:16150737, PubMed:18854321, PubMed:20472641, PubMed:21586581). Plays a role in many biological processes such as genomic integrity, gene expression regulations and as a sensor to initiate antiviral responses (PubMed:14731398, PubMed:18279852, PubMed:21993297, PubMed:22238380, PubMed:25579584). G4 structures correspond to helical structures containing guanine tetrads (By similarity). Binds with high affinity to and unwinds G4 structures that are formed in nucleic acids (G4-DNA and G4-RNA) (PubMed:16150737, PubMed:18842585, PubMed:20472641, PubMed:21586581, PubMed:24369427, PubMed:26195789). Plays a role in genomic integrity (PubMed:22238380). Converts the G4-RNA structure present in telomerase RNA template component (TREC) into a double-stranded RNA to promote P1 helix formation that acts as a template boundary ensuring accurate reverse transcription (PubMed:20472641, PubMed:21149580, PubMed:21846770, PubMed:22238380, PubMed:24151078, PubMed:25579584). Plays a role in transcriptional regulation (PubMed:21586581, PubMed:21993297). Resolves G4-DNA structures in promoters of genes, such as YY1, KIT/c-kit and ALPL and positively regulates their expression (PubMed:21993297). Plays a role in post-transcriptional regulation (PubMed:27940037). Unwinds a G4-RNA structure located in the 3'-UTR polyadenylation site of the pre-mRNA TP53 and stimulates TP53 pre-mRNA 3'-end processing in response to ultraviolet (UV)-induced DNA damage (PubMed:27940037). Binds to the precursor-microRNA-134 (pre-miR-134) terminal loop and regulates its transport into the synapto-dendritic compartment (By similarity). Involved in the pre-miR-134-dependent inhibition of target gene expression and the control of dendritic spine size (By similarity). Plays a role in the regulation of cytoplasmic mRNA translation and mRNA stability (PubMed:24369427, PubMed:26489465). Binds to both G4-RNA structures and alternative non-quadruplex-forming sequence within the 3'-UTR of the PITX1 mRNA regulating negatively PITX1 protein expression (PubMed:24369427). Binds to both G4-RNA structure in the 5'-UTR and AU-rich elements (AREs) localized in the 3'-UTR of NKX2-5 mRNA to either stimulate protein translation or induce mRNA decay in an ELAVL1-dependent manner, respectively (PubMed:26489465). Also binds to ARE sequences present in several mRNAs mediating exosome-mediated 3'-5' mRNA degradation (PubMed:14731398, PubMed:18279852). Involved in cytoplasmic urokinase-type plasminogen activator (uPA) mRNA decay (PubMed:14731398). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of pro-inflammatory cytokines via the adapter molecule TICAM1 (By similarity). Required for early embryonic development and hematopoiesis. Involved in the regulation of cardioblast differentiation and proliferation during heart development. Involved in spermatogonia differentiation. May play a role in ossification (By similarity)

ATP-dependent DNA/RNA helicase DHX36 · Nucleus; Cytoplasm; Cytoplasm, cytosol; Cytoplasm, Stress granule; Nucleus speckle; Chromosome, telomere; Mitochondrion; Perikaryon; Cell projection, dendrite; Cell projection, axon · EC 3.6.4.12; 3.6.4.13

GO annotations

Biological process
  • GO:0061158 3'-UTR-mediated mRNA destabilization (IMP)
  • GO:0034644 cellular response to UV (IMP)
  • GO:1903843 cellular response to arsenite ion (IDA)
  • GO:0034605 cellular response to heat (IDA)
  • GO:0017148 negative regulation of translation (IDA)
  • GO:0001503 ossification (ISS)
  • GO:0001503 ossification (IEA)
  • GO:0043123 positive regulation of canonical NF-kappaB signal transduction (ISS)
  • GO:0043123 positive regulation of canonical NF-kappaB signal transduction (IEA)
  • GO:0051891 positive regulation of cardioblast differentiation (ISS)

+ 27 more

Cellular component
  • GO:0030424 axon (ISS)
  • GO:0030424 axon (IEA)
  • GO:0030424 axon (IEA)
  • GO:0000781 chromosome, telomeric region (IEA)
  • GO:0000781 chromosome, telomeric region (IDA)
  • GO:0000781 chromosome, telomeric region (IDA)
  • GO:0005737 cytoplasm (IEA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (IDA)

+ 27 more

Molecular function
  • GO:0005524 ATP binding (IEA)
  • GO:0005524 ATP binding (ISS)
  • GO:0016887 ATP hydrolysis activity (IEA)
  • GO:0016887 ATP hydrolysis activity (EXP)
  • GO:0016887 ATP hydrolysis activity (EXP)
  • GO:0016887 ATP hydrolysis activity (EXP)
  • GO:0016887 ATP hydrolysis activity (EXP)
  • GO:0016887 ATP hydrolysis activity (EXP)
  • GO:0008094 ATP-dependent activity, acting on DNA (IDA)
  • GO:0003678 DNA helicase activity (IEA)

+ 75 more

Representative

Representative transcript
ENST00000329463
Representative protein
ENSP00000330113.5
Representative type
CCDS
Candidate count
4

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000308361 DHX36-201 protein_coding not available ENSP00000309296.6 3:154,271,823 - 154,324,991 -
ENST00000932391 DHX36-214 protein_coding not available ENSP00000602450.1 3:154,271,823 - 154,324,991 -
ENST00000964933 DHX36-215 protein_coding not available ENSP00000634992.1 3:154,271,823 - 154,324,991 -
ENST00000964934 DHX36-216 protein_coding not available ENSP00000634993.1 3:154,271,823 - 154,324,991 -
ENST00001141284 DHX36-221 protein_coding not available ENSP00000813279.1 3:154,271,823 - 154,324,991 -
ENST00000496811 DHX36-213 protein_coding not available ENSP00000417078.1 3:154,272,546 - 154,324,487 -
ENST00001124049 DHX36-220 nonsense_mediated_decay not available ENSP00000793854.1 3:154,275,667 - 154,324,482 -
ENST00001073505 DHX36-217 nonsense_mediated_decay not available ENSP00000743311.1 3:154,275,668 - 154,324,482 -
ENST00001073506 DHX36-218 nonsense_mediated_decay not available ENSP00000743312.1 3:154,275,668 - 154,324,474 -
ENST00000495598 DHX36-212 retained_intron not available not available 3:154,276,029 - 154,277,835 -
ENST00000329463 DHX36-202 protein_coding not available ENSP00000330113.5 3:154,276,171 - 154,324,416 -
ENST00000477549 DHX36-207 retained_intron not available not available 3:154,276,553 - 154,277,894 -
ENST00000479934 DHX36-208 nonsense_mediated_decay not available ENSP00000418756.1 3:154,277,625 - 154,284,987 -
ENST00000481941 DHX36-210 protein_coding not available ENSP00000419862.1 3:154,277,635 - 154,319,284 -
ENST00000460695 DHX36-203 retained_intron not available not available 3:154,278,495 - 154,283,218 -
ENST00001111178 DHX36-219 protein_coding not available ENSP00000780983.1 3:154,280,478 - 154,324,991 -
ENST00000469977 DHX36-206 protein_coding not available ENSP00000419761.1 3:154,284,653 - 154,295,327 -
ENST00000481332 DHX36-209 retained_intron not available not available 3:154,284,781 - 154,292,578 -
ENST00000460875 DHX36-204 retained_intron not available not available 3:154,303,344 - 154,305,337 -
ENST00000462464 DHX36-205 retained_intron not available not available 3:154,309,796 - 154,312,248 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.