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Protein

ATP-dependent RNA helicase DHX36

Gene

DHX36

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Proposed to have a global role in regulating mRNA expression including transcriptional regulation and mRNA stability. Binds with high affinity to and resolves tetramolecular RNA and DNA quadruplex structures. Unwinds intramolecular quadruplexes derived from the ZIC1 and the MYC promoters. Binds to quadruplex structures in the promoters of YY1 and ALPL genes and regulates their expression. Binds to telomerase RNA template component (TERC) 5'-end (nucleotides 1-43) and unwinds an internal quadruplex formation in TERC 5'-end to promote P1 helix formation; the P1 helix acts as a template boundary ensuring accurate reverse transcription and is disrupted by quadruplex formation. May be involved in regulation of telomere length. Plays a role in degradation and deadenylation of mRNAs containing in their 3'-UTR the consensus ARE sequence element. May function in sex development and spermatogenesis. May play a role in ossification.9 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi230 – 237ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent RNA helicase activity Source: GO_Central
  • core promoter binding Source: UniProtKB
  • DNA-dependent ATPase activity Source: UniProtKB
  • double-stranded RNA binding Source: MGI
  • G-quadruplex DNA binding Source: UniProtKB
  • G-quadruplex RNA binding Source: UniProtKB
  • histone deacetylase binding Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB
  • transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding, RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000174953-MONOMER.
ReactomeiR-HSA-3134963. DEx/H-box helicases activate type I IFN and inflammatory cytokines production.
R-HSA-933541. TRAF6 mediated IRF7 activation.
R-HSA-975110. TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-dependent RNA helicase DHX36 (EC:3.6.4.12, EC:3.6.4.13)
Alternative name(s):
DEAH box protein 36
G4-resolvase 1
Short name:
G4R1
MLE-like protein 1
RNA helicase associated with AU-rich element ARE
Gene namesi
Name:DHX36
Synonyms:DDX36, KIAA1488, MLEL1, RHAU
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:14410. DHX36.

Subcellular locationi

  • Nucleus
  • Cytoplasm
  • Chromosometelomere Curated

  • Note: Isoform 1 preferentially localized to the nucleus and isoform 2 localized to the cytoplasm. However, partitioning of cellular localization between the nucleus and cytoplasm is not exclusive, as isoform 1 was also detected in the cytoplasm. Both isoforms were excluded from nucleoli. Localizes to cytoplasmic stress granules.

GO - Cellular componenti

  • chromosome, telomeric region Source: UniProtKB-SubCell
  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus, Telomere

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi54P → G: Reduces G4-RNA binding; when associated with A-57, A-59, A-62 and A-63. 1 Publication1
Mutagenesisi57L → A: Reduces G4-RNA binding; when associated with G-54, A-59, A-62 and A-63. 1 Publication1
Mutagenesisi59G → A: Reduces G4-RNA binding; when associated with G-54, A-57, A-62 and A-63. 1 Publication1
Mutagenesisi59G → P: Greatly reduces G4-RNA binding; when associated with P-63. 1 Publication1
Mutagenesisi62I → A: Reduces G4-RNA binding; when associated with G-54, A-57, A-59 and A-63. 1 Publication1
Mutagenesisi63G → A: Reduces G4-RNA binding; when associated with G-54, A-57, A-59 and A-62. 1 Publication1
Mutagenesisi63G → P: Greatly reduces G4-RNA binding; when associated with P-59. 1 Publication1
Mutagenesisi335E → A: Loss of ATPase activity resulting in loss of mRNA deadenylation and decay. 1 Publication1

Organism-specific databases

DisGeNETi170506.
OpenTargetsiENSG00000174953.
PharmGKBiPA27223.

Chemistry databases

ChEMBLiCHEMBL2040704.

Polymorphism and mutation databases

BioMutaiDHX36.
DMDMi313104099.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002475301 – 1008ATP-dependent RNA helicase DHX36Add BLAST1008

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei161PhosphoserineCombined sources1
Modified residuei947N6-acetyllysineCombined sources1
Modified residuei963PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H2U1.
MaxQBiQ9H2U1.
PaxDbiQ9H2U1.
PeptideAtlasiQ9H2U1.
PRIDEiQ9H2U1.

PTM databases

iPTMnetiQ9H2U1.
PhosphoSitePlusiQ9H2U1.

Expressioni

Tissue specificityi

Highly expressed in testis.2 Publications

Gene expression databases

BgeeiENSG00000174953.
CleanExiHS_DHX36.
ExpressionAtlasiQ9H2U1. baseline and differential.
GenevisibleiQ9H2U1. HS.

Organism-specific databases

HPAiHPA035399.

Interactioni

Subunit structurei

Interacts with AGO1, AGO2, PARN, EXOSC3, EXOSC10, HDAC1 and HDAC4.4 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi128022. 51 interactors.
IntActiQ9H2U1. 15 interactors.
MINTiMINT-3066797.
STRINGi9606.ENSP00000417078.

Structurei

Secondary structure

11008
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni57 – 61Combined sources5
Helixi62 – 67Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2N16NMR-A53-70[»]
2N21NMR-A53-70[»]
ProteinModelPortaliQ9H2U1.
SMRiQ9H2U1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini217 – 387Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST171
Domaini477 – 647Helicase C-terminalPROSITE-ProRule annotationAdd BLAST171

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 105RNA-binding; sufficient and required for recruitment to cytoplasmic stress granulesAdd BLAST105
Regioni53 – 105Sufficient and required for interaction with TERC 5'-endAdd BLAST53
Regioni54 – 66RSMAdd BLAST13

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili72 – 157Sequence analysisAdd BLAST86

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi334 – 337DEAH box4
Motifi517 – 528Nuclear localization signalAdd BLAST12

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi10 – 63Gly-richAdd BLAST54

Domaini

The RHAU-specific motif (RSM) is required for quadruplex G4-DNA/RNA structure recognition and resolution.

Sequence similaritiesi

Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0920. Eukaryota.
COG1643. LUCA.
GeneTreeiENSGT00760000119189.
HOGENOMiHOG000247063.
HOVERGENiHBG081438.
InParanoidiQ9H2U1.
KOiK14442.
OMAiRNLPPRF.
OrthoDBiEOG091G01I0.
PhylomeDBiQ9H2U1.
TreeFamiTF324744.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR002464. DNA/RNA_helicase_DEAH_CS.
IPR011709. DUF1605.
IPR007502. Helicase-assoc_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF04408. HA2. 1 hit.
PF00271. Helicase_C. 1 hit.
PF07717. OB_NTP_bind. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00847. HA2. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H2U1-1) [UniParc]FASTAAdd to basket
Also known as: Nuclear isoform

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSYDYHQNWG RDGGPRSSGG GYGGGPAGGH GGNRGSGGGG GGGGGGRGGR
60 70 80 90 100
GRHPGHLKGR EIGMWYAKKQ GQKNKEAERQ ERAVVHMDER REEQIVQLLN
110 120 130 140 150
SVQAKNDKES EAQISWFAPE DHGYGTEVST KNTPCSENKL DIQEKKLINQ
160 170 180 190 200
EKKMFRIRNR SYIDRDSEYL LQENEPDGTL DQKLLEDLQK KKNDLRYIEM
210 220 230 240 250
QHFREKLPSY GMQKELVNLI DNHQVTVISG ETGCGKTTQV TQFILDNYIE
260 270 280 290 300
RGKGSACRIV CTQPRRISAI SVAERVAAER AESCGSGNST GYQIRLQSRL
310 320 330 340 350
PRKQGSILYC TTGIILQWLQ SDPYLSSVSH IVLDEIHERN LQSDVLMTVV
360 370 380 390 400
KDLLNFRSDL KVILMSATLN AEKFSEYFGN CPMIHIPGFT FPVVEYLLED
410 420 430 440 450
VIEKIRYVPE QKEHRSQFKR GFMQGHVNRQ EKEEKEAIYK ERWPDYVREL
460 470 480 490 500
RRRYSASTVD VIEMMEDDKV DLNLIVALIR YIVLEEEDGA ILVFLPGWDN
510 520 530 540 550
ISTLHDLLMS QVMFKSDKFL IIPLHSLMPT VNQTQVFKRT PPGVRKIVIA
560 570 580 590 600
TNIAETSITI DDVVYVIDGG KIKETHFDTQ NNISTMSAEW VSKANAKQRK
610 620 630 640 650
GRAGRVQPGH CYHLYNGLRA SLLDDYQLPE ILRTPLEELC LQIKILRLGG
660 670 680 690 700
IAYFLSRLMD PPSNEAVLLS IRHLMELNAL DKQEELTPLG VHLARLPVEP
710 720 730 740 750
HIGKMILFGA LFCCLDPVLT IAASLSFKDP FVIPLGKEKI ADARRKELAK
760 770 780 790 800
DTRSDHLTVV NAFEGWEEAR RRGFRYEKDY CWEYFLSSNT LQMLHNMKGQ
810 820 830 840 850
FAEHLLGAGF VSSRNPKDPE SNINSDNEKI IKAVICAGLY PKVAKIRLNL
860 870 880 890 900
GKKRKMVKVY TKTDGLVAVH PKSVNVEQTD FHYNWLIYHL KMRTSSIYLY
910 920 930 940 950
DCTEVSPYCL LFFGGDISIQ KDNDQETIAV DEWIVFQSPA RIAHLVKELR
960 970 980 990 1000
KELDILLQEK IESPHPVDWN DTKSRDCAVL SAIIDLIKTQ EKATPRNFPP

RFQDGYYS
Length:1,008
Mass (Da):114,760
Last modified:November 30, 2010 - v2
Checksum:i66A28A1FE93C62AE
GO
Isoform 2 (identifier: Q9H2U1-2) [UniParc]FASTAAdd to basket
Also known as: Cytoplasmic isoform, RHAU-delta 14

The sequence of this isoform differs from the canonical sequence as follows:
     517-530: Missing.

Show »
Length:994
Mass (Da):113,153
Checksum:i47809C3BDA49B709
GO
Isoform 3 (identifier: Q9H2U1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     737-765: Missing.

Note: No experimental confirmation available.
Show »
Length:979
Mass (Da):111,479
Checksum:iE8F39FA84E4DA91D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027140151E → K.Corresponds to variant rs1058299dbSNPEnsembl.1
Natural variantiVAR_027141416S → C.3 PublicationsCorresponds to variant rs9438dbSNPEnsembl.1
Natural variantiVAR_027142583I → N.1 PublicationCorresponds to variant rs17853513dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020006517 – 530Missing in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_020007737 – 765Missing in isoform 3. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF217190 mRNA. Translation: AAG36783.1.
AJ577133 mRNA. Translation: CAE11802.1.
AJ577134 mRNA. Translation: CAE11803.1.
AK314435 mRNA. Translation: BAG37047.1.
AC018452 Genomic DNA. No translation available.
AC134026 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78761.1.
BC036035 mRNA. Translation: AAH36035.1.
AB040921 mRNA. Translation: BAA96012.1.
CCDSiCCDS3171.1. [Q9H2U1-1]
CCDS54657.1. [Q9H2U1-2]
PIRiD56236.
RefSeqiNP_001107869.1. NM_001114397.1. [Q9H2U1-2]
NP_065916.2. NM_020865.2. [Q9H2U1-1]
UniGeneiHs.446270.

Genome annotation databases

EnsembliENST00000308361; ENSP00000309296; ENSG00000174953. [Q9H2U1-3]
ENST00000329463; ENSP00000330113; ENSG00000174953. [Q9H2U1-2]
ENST00000496811; ENSP00000417078; ENSG00000174953. [Q9H2U1-1]
GeneIDi170506.
KEGGihsa:170506.
UCSCiuc003ezy.5. human. [Q9H2U1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF217190 mRNA. Translation: AAG36783.1.
AJ577133 mRNA. Translation: CAE11802.1.
AJ577134 mRNA. Translation: CAE11803.1.
AK314435 mRNA. Translation: BAG37047.1.
AC018452 Genomic DNA. No translation available.
AC134026 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78761.1.
BC036035 mRNA. Translation: AAH36035.1.
AB040921 mRNA. Translation: BAA96012.1.
CCDSiCCDS3171.1. [Q9H2U1-1]
CCDS54657.1. [Q9H2U1-2]
PIRiD56236.
RefSeqiNP_001107869.1. NM_001114397.1. [Q9H2U1-2]
NP_065916.2. NM_020865.2. [Q9H2U1-1]
UniGeneiHs.446270.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2N16NMR-A53-70[»]
2N21NMR-A53-70[»]
ProteinModelPortaliQ9H2U1.
SMRiQ9H2U1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128022. 51 interactors.
IntActiQ9H2U1. 15 interactors.
MINTiMINT-3066797.
STRINGi9606.ENSP00000417078.

Chemistry databases

ChEMBLiCHEMBL2040704.

PTM databases

iPTMnetiQ9H2U1.
PhosphoSitePlusiQ9H2U1.

Polymorphism and mutation databases

BioMutaiDHX36.
DMDMi313104099.

Proteomic databases

EPDiQ9H2U1.
MaxQBiQ9H2U1.
PaxDbiQ9H2U1.
PeptideAtlasiQ9H2U1.
PRIDEiQ9H2U1.

Protocols and materials databases

DNASUi170506.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308361; ENSP00000309296; ENSG00000174953. [Q9H2U1-3]
ENST00000329463; ENSP00000330113; ENSG00000174953. [Q9H2U1-2]
ENST00000496811; ENSP00000417078; ENSG00000174953. [Q9H2U1-1]
GeneIDi170506.
KEGGihsa:170506.
UCSCiuc003ezy.5. human. [Q9H2U1-1]

Organism-specific databases

CTDi170506.
DisGeNETi170506.
GeneCardsiDHX36.
HGNCiHGNC:14410. DHX36.
HPAiHPA035399.
MIMi612767. gene.
neXtProtiNX_Q9H2U1.
OpenTargetsiENSG00000174953.
PharmGKBiPA27223.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0920. Eukaryota.
COG1643. LUCA.
GeneTreeiENSGT00760000119189.
HOGENOMiHOG000247063.
HOVERGENiHBG081438.
InParanoidiQ9H2U1.
KOiK14442.
OMAiRNLPPRF.
OrthoDBiEOG091G01I0.
PhylomeDBiQ9H2U1.
TreeFamiTF324744.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000174953-MONOMER.
ReactomeiR-HSA-3134963. DEx/H-box helicases activate type I IFN and inflammatory cytokines production.
R-HSA-933541. TRAF6 mediated IRF7 activation.
R-HSA-975110. TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling.

Miscellaneous databases

ChiTaRSiDHX36. human.
GeneWikiiDHX36.
GenomeRNAii170506.
PROiQ9H2U1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174953.
CleanExiHS_DHX36.
ExpressionAtlasiQ9H2U1. baseline and differential.
GenevisibleiQ9H2U1. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
IPR002464. DNA/RNA_helicase_DEAH_CS.
IPR011709. DUF1605.
IPR007502. Helicase-assoc_dom.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00270. DEAD. 1 hit.
PF04408. HA2. 1 hit.
PF00271. Helicase_C. 1 hit.
PF07717. OB_NTP_bind. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00847. HA2. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDHX36_HUMAN
AccessioniPrimary (citable) accession number: Q9H2U1
Secondary accession number(s): B2RB00
, Q70JU3, Q8IYE5, Q9P240
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: November 30, 2010
Last modified: November 2, 2016
This is version 146 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.