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Q8IX18 (DHX40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable ATP-dependent RNA helicase DHX40

EC=3.6.4.13
Alternative name(s):
DEAH box protein 40
Protein PAD
Gene names
Name:DHX40
Synonyms:DDX40
ORF Names:ARG147
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length779 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable ATP-dependent RNA helicase By similarity.

Catalytic activity

ATP + H2O = ADP + phosphate.

Tissue specificity

Ubiquitously expressed. Ref.1

Sequence similarities

Belongs to the DEAD box helicase family. DEAH subfamily.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Sequence caution

The sequence AAF70326.1 differs from that shown. Reason: Frameshift at position 758.

The sequence AAK32122.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAB15226.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IX18-1)

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: Q8IX18-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: Missing.
     326-326: Q → QQRRIFLPPPPGIRKCVISTNISATSLTIDGIRYVVDGGFVKQLNHNPRLGLE
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8IX18-3)

The sequence of this isoform differs from the canonical sequence as follows:
     716-722: REDARRR → MKIYYFQ
     723-779: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8IX18-4)

The sequence of this isoform differs from the canonical sequence as follows:
     66-142: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 779779Probable ATP-dependent RNA helicase DHX40
PRO_0000252395

Regions

Domain63 – 231169Helicase ATP-binding
Domain263 – 442180Helicase C-terminal
Nucleotide binding76 – 838ATP By similarity
Motif173 – 1764DEAH box

Natural variations

Alternative sequence1 – 9999Missing in isoform 2.
VSP_020932
Alternative sequence66 – 14277Missing in isoform 4.
VSP_046973
Alternative sequence3261Q → QQRRIFLPPPPGIRKCVIST NISATSLTIDGIRYVVDGGF VKQLNHNPRLGLE in isoform 2.
VSP_020933
Alternative sequence716 – 7227REDARRR → MKIYYFQ in isoform 3.
VSP_020934
Alternative sequence723 – 77957Missing in isoform 3.
VSP_020935

Experimental info

Sequence conflict2611K → E in AAN77932. Ref.1
Sequence conflict4491F → V in AAF70326. Ref.2
Sequence conflict6431M → V in AAN77932. Ref.1
Sequence conflict6721E → G in AAK32122. Ref.7

Sequences

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

Last modified October 17, 2006. Version 2.
Checksum: B49A996C51986827

FASTA77988,560
        10         20         30         40         50         60 
MSRFPAVAGR APRRQEEGER SRDLQEERLS AVCIADREEK GCTSQEGGTT PTFPIQKQRK 

        70         80         90        100        110        120 
KIIQAVRDNS FLIVTGNTGS GKTTQLPKYL YEAGFSQHGM IGVTQPRKVA AISVAQRVAE 

       130        140        150        160        170        180 
EMKCTLGSKV GYQVRFDDCS SKETAIKYMT DGCLLKHILG DPNLTKFSVI ILDEAHERTL 

       190        200        210        220        230        240 
TTDILFGLLK KLFQEKSPNR KEHLKVVVMS ATMELAKLSA FFGNCPIFDI PGRLYPVREK 

       250        260        270        280        290        300 
FCNLIGPRDR ENTAYIQAIV KVTMDIHLNE MAGDILVFLT GQFEIEKSCE LLFQMAESVD 

       310        320        330        340        350        360 
YDYDVQDTTL DGLLILPCYG SMTTDQQRRI FLPPPPGIRK CVISTNISAT SLTIDGIRYV 

       370        380        390        400        410        420 
VDGGFVKQLN HNPRLGLDIL EVVPISKSEA LQRSGRAGRT SSGKCFRIYS KDFWNQCMPD 

       430        440        450        460        470        480 
HVIPEIKRTS LTSVVLTLKC LAIHDVIRFP YLDPPNERLI LEALKQLYQC DAIDRSGHVT 

       490        500        510        520        530        540 
RLGLSMVEFP LPPHLTCAVI KAASLDCEDL LLPIAAMLSV ENVFIRPVDP EYQKEAEQRH 

       550        560        570        580        590        600 
RELAAKAGGF NDFATLAVIF EQCKSSGAPA SWCQKHWIHW RCLFSAFRVE AQLRELIRKL 

       610        620        630        640        650        660 
KQQSDFPKET FEGPKHEVLR RCLCAGYFKN VARRSVGRTF CTMDGRGSPV HIHPSSALHE 

       670        680        690        700        710        720 
QETKLEWIIF HEVLVTTKVY ARIVCPIRYE WVRDLLPKLH EFNAHDLSSV ARREVREDAR 

       730        740        750        760        770 
RRWTNKENVK QLKDGISKDV LKKMQRRNDD KSISDARARF LERKQQRTQD HSDTRKETG 

« Hide

Isoform 2 [UniParc].

Checksum: 9372AC4F43466126
Show »

FASTA73283,320
Isoform 3 [UniParc].

Checksum: 889558EDAAF6E5F6
Show »

FASTA72281,797
Isoform 4 [UniParc].

Checksum: DE23745E99819ED8
Show »

FASTA70280,221

References

« Hide 'large scale' references
[1]"Identification of a novel human DDX40 gene, a new member of the DEAH-box protein family."
Xu J., Wu H., Zhang C., Cao Y., Wang L., Zeng L., Ye X., Wu Q., Dai J., Xie Y., Mao Y.
J. Hum. Genet. 47:681-683(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]"Five novel genes from 17q23 amplicon have different amplification and overexpression frequency in breast cancer."
Wu G.-J., Couch F.J.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[4]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 213-779.
Tissue: Lymph node.
[7]"Gene cloning of human adenocarcinoma cell line."
Yanqiu Z., Huazhang A., Fei L., Yongquan S., Xin W., Taidong Q., Baojun C., Kaichun W., Jie D., Daiming F.
Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 327-779 (ISOFORM 3).
Tissue: Stomach cancer.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF461690 mRNA. Translation: AAN77932.1.
AF260270 mRNA. Translation: AAF70326.1. Frameshift.
AK025713 mRNA. Translation: BAB15226.1. Different initiation.
AK095681 mRNA. Translation: BAG53107.1.
AC004167 Genomic DNA. No translation available.
AC091271 Genomic DNA. No translation available.
BC024187 mRNA. Translation: AAH24187.1.
AL832510 mRNA. Translation: CAI46197.1.
AF319521 mRNA. Translation: AAK32122.1. Different initiation.
RefSeqNP_001159773.1. NM_001166301.1.
NP_078888.4. NM_024612.4.
UniGeneHs.29403.

3D structure databases

ProteinModelPortalQ8IX18.
SMRQ8IX18. Positions 53-230, 455-707.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122790. 13 interactions.
IntActQ8IX18. 1 interaction.
STRING9606.ENSP00000251241.

PTM databases

PhosphoSiteQ8IX18.

Polymorphism databases

DMDM116247771.

Proteomic databases

PaxDbQ8IX18.
PRIDEQ8IX18.

Protocols and materials databases

DNASU79665.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251241; ENSP00000251241; ENSG00000108406. [Q8IX18-1]
ENST00000425628; ENSP00000388749; ENSG00000108406. [Q8IX18-4]
GeneID79665.
KEGGhsa:79665.
UCSCuc002ixn.2. human. [Q8IX18-1]

Organism-specific databases

CTD79665.
GeneCardsGC17P057642.
HGNCHGNC:18018. DHX40.
HPAHPA044350.
MIM607570. gene.
neXtProtNX_Q8IX18.
PharmGKBPA27227.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1643.
HOVERGENHBG039428.
InParanoidQ8IX18.
OMALYGSMPT.
OrthoDBEOG7QRQT3.
PhylomeDBQ8IX18.
TreeFamTF332290.

Gene expression databases

ArrayExpressQ8IX18.
BgeeQ8IX18.
CleanExHS_DHX40.
GenevestigatorQ8IX18.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
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]
PfamPF00270. DEAD. 1 hit.
PF04408. HA2. 1 hit.
PF00271. Helicase_C. 1 hit.
PF07717. OB_NTP_bind. 1 hit.
[Graphical view]
SMARTSM00487. DEXDc. 1 hit.
SM00847. HA2. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDHX40. human.
GenomeRNAi79665.
NextBio35487494.
PROQ8IX18.
SOURCESearch...

Entry information

Entry nameDHX40_HUMAN
AccessionPrimary (citable) accession number: Q8IX18
Secondary accession number(s): B3KTJ5 expand/collapse secondary AC list , C9JR60, Q5JPH4, Q8TC86, Q8WY53, Q9BXM1, Q9H6M9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 99 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM