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Reviewed, UniProtKB/Swiss-Prot Q9H2U1 (DHX36_HUMAN)

Last modified June 16, 2009. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Probable ATP-dependent RNA helicase DHX36
    EC=3.6.1.-
Alternative name(s):
    DEAH box protein 36
    MLE-like protein 1
    RNA helicase associated with AU-rich element ARE
Gene names
Name: DHX36
Synonyms: DDX36, KIAA1488, MLEL1, RHAU
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length1008 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

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. Ref.1 Ref.2

Subunit structure

Interacts with PARN, EXOSC3 and EXOSC10. Ref.2

Subcellular location

Nucleus. Cytoplasm. 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. Ref.2

Tissue specificity

Highly expressed in testis. Ref.1 Ref.2

Sequence similarities

Belongs to the DEAD box helicase family. DEAH subfamily.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

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Ontologies

Keywords
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   LigandATP-binding
Nucleotide-binding
   Molecular functionHelicase
Hydrolase
Gene Ontology (GO)
   Cellular componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATP-dependent helicase activity

Inferred from electronic annotation. Source: InterPro

nucleic acid binding

Inferred from electronic annotation. Source: InterPro

protein binding

Inferred from physical interaction. Source: IntAct

Complete GO annotation...

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Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H2U1-1)

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.
Isoform 2 (identifier: Q9H2U1-2)

Also known as: Cytoplasmic isoform; RHAU-delta 14;

The sequence of this isoform differs from the canonical sequence as follows:
     517-530: Missing.
Isoform 3 (identifier: Q9H2U1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     737-765: Missing.
Note: No experimental confirmation available.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10081008Probable ATP-dependent RNA helicase DHX36
PRO_0000247530

Regions

Domain217 – 387171Helicase ATP-binding
Domain477 – 647171Helicase C-terminal
Nucleotide binding230 – 2378ATP By similarity
Coiled coil72 – 15786 Potential
Motif334 – 3374DEAH box
Motif517 – 52812Nuclear localization signal
Compositional bias10 – 6354Gly-rich

Natural variations

Alternative sequence517 – 53014Missing in isoform 2.
VSP_020006
Alternative sequence737 – 76529Missing in isoform 3.
VSP_020007
Natural variant1511E → K: dbSNP rs1058299.
VAR_027140
Natural variant4161C → S: dbSNP rs9438. Ref.4
VAR_027141
Natural variant5831I → N: dbSNP rs17853513. Ref.3
VAR_027142

Experimental info

Mutagenesis3351E → A: Loss of ATPase activity resulting in loss of mRNA deadenylation and decay. Ref.2

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Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Nuclear isoform) [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 6368B27AB4040239

FASTA1,008114,776
        10         20         30         40         50         60 
MSYDYHQNWG RDGGPRSSGG GYGGGPAGGH GGNRGSGGGG GGGGGGRGGR GRHPGHLKGR 

        70         80         90        100        110        120 
EIGMWYAKKQ GQKNKEAERQ ERAVVHMDER REEQIVQLLN SVQAKNDKES EAQISWFAPE 

       130        140        150        160        170        180 
DHGYGTEVST KNTPCSENKL DIQEKKLINQ EKKMFRIRNR SYIDRDSEYL LQENEPDGTL 

       190        200        210        220        230        240 
DQKLLEDLQK KKNDLRYIEM QHFREKLPSY GMQKELVNLI DNHQVTVISG ETGCGKTTQV 

       250        260        270        280        290        300 
TQFILDNYIE RGKGSACRIV CTQPRRISAI SVAERVAAER AESCGSGNST GYQIRLQSRL 

       310        320        330        340        350        360 
PRKQGSILYC TTGIILQWLQ SDPYLSSVSH IVLDEIHERN LQSDVLMTVV KDLLNFRSDL 

       370        380        390        400        410        420 
KVILMSATLN AEKFSEYFGN CPMIHIPGFT FPVVEYLLED VIEKIRYVPE QKEHRCQFKR 

       430        440        450        460        470        480 
GFMQGHVNRQ EKEEKEAIYK ERWPDYVREL RRRYSASTVD VIEMMEDDKV DLNLIVALIR 

       490        500        510        520        530        540 
YIVLEEEDGA ILVFLPGWDN ISTLHDLLMS QVMFKSDKFL IIPLHSLMPT VNQTQVFKRT 

       550        560        570        580        590        600 
PPGVRKIVIA TNIAETSITI DDVVYVIDGG KIKETHFDTQ NNISTMSAEW VSKANAKQRK 

       610        620        630        640        650        660 
GRAGRVQPGH CYHLYNGLRA SLLDDYQLPE ILRTPLEELC LQIKILRLGG IAYFLSRLMD 

       670        680        690        700        710        720 
PPSNEAVLLS IRHLMELNAL DKQEELTPLG VHLARLPVEP HIGKMILFGA LFCCLDPVLT 

       730        740        750        760        770        780 
IAASLSFKDP FVIPLGKEKI ADARRKELAK DTRSDHLTVV NAFEGWEEAR RRGFRYEKDY 

       790        800        810        820        830        840 
CWEYFLSSNT LQMLHNMKGQ FAEHLLGAGF VSSRNPKDPE SNINSDNEKI IKAVICAGLY 

       850        860        870        880        890        900 
PKVAKIRLNL GKKRKMVKVY TKTDGLVAVH PKSVNVEQTD FHYNWLIYHL KMRTSSIYLY 

       910        920        930        940        950        960 
DCTEVSPYCL LFFGGDISIQ KDNDQETIAV DEWIVFQSPA RIAHLVKELR KELDILLQEK 

       970        980        990       1000 
IESPHPVDWN DTKSRDCAVL SAIIDLIKTQ EKATPRNFPP RFQDGYYS

« Hide

Isoform 2 (Cytoplasmic isoform) (RHAU-delta 14).

Checksum: BDD098DF81F65352
Show »

FASTA994113,169
Isoform 3.

Checksum: 6EE39FADDD1C77E3
Show »

FASTA979111,496

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References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of human DDX36 and mouse Ddx36 genes, new members of the DEAD/H box superfamily."
Fu J.-J., Li L.-Y., Lu G.-X.
Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 34:655-661(2002) [PubMed: 12198572] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
Tissue: Brain.
[2]"Facilitation of mRNA deadenylation and decay by the exosome-bound, DExH protein RHAU."
Tran H., Schilling M., Wirbelauer C., Hess D., Nagamine Y.
Mol. Cell 13:101-111(2004) [PubMed: 14731398] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY, INTERACTION WITH PARN; EXOSC3 AND EXOSC10, MUTAGENESIS OF GLU-335.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ASN-583.
Tissue: Testis.
[4]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed: 10819331] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 157-1008 (ISOFORM 1), VARIANT SER-416.
Tissue: Brain.
[5]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+Additional computationally mapped references.

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Cross-references

Sequence databases

AF217190 mRNA. Translation: AAG36783.1.
AJ577133 mRNA. Translation: CAE11802.1.
AJ577134 mRNA. Translation: CAE11803.1.
BC036035 mRNA. Translation: AAH36035.1.
AB040921 mRNA. Translation: BAA96012.1.
IPIIPI00027415.
IPI00217760.
IPI00784170.
PIRD56236.
UniGeneHs.446270

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActQ9H2U1. 11 interactions.

PTM databases

PhosphoSiteQ9H2U1.

Proteomic databases

PRIDEQ9H2U1.

Genome annotation databases

EnsemblENSG00000174953. Homo sapiens. [Contig view]

Organism-specific databases

GeneCardsGC03M155476.
HGNCHGNC:14410. DHX36.
PharmGKBPA27223.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ9H2U1.
HOVERGENQ9H2U1.

Gene expression databases

ArrayExpressQ9H2U1.
BgeeQ9H2U1.
CleanExHS_DHX36.
GermOnlineENSG00000174953. Homo sapiens.

Family and domain databases

InterProIPR014001. DEAD-like_N.
IPR001650. DNA/RNA_helicase_C.
IPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
IPR002464. DNA/RNA_helicase_DEAH_CS.
IPR011709. DUF1605.
IPR007502. Helicase-assoc_reg.
IPR014021. Helicase_SF1/SF2_ATP-bd.
[Graphical view]
PfamPF00270. DEAD. 1 hit.
PF07717. DUF1605. 1 hit.
PF04408. HA2. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
PROSITEPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetSearch...

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Entry information

Entry nameDHX36_HUMAN
AccessionPrimary (citable) accession number: Q9H2U1
Secondary accession number(s): Q70JU3, Q8IYE5, Q9P240
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: March 1, 2001
Last modified: June 16, 2009
This is version 67 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents