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Q8IX18

- DHX40_HUMAN

UniProt

Q8IX18 - DHX40_HUMAN

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Protein

Probable ATP-dependent RNA helicase DHX40

Gene

DHX40

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Probable ATP-dependent RNA helicase.By similarity

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi76 – 838ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ATP-dependent helicase activity Source: InterPro
  3. nucleic acid binding Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Probable ATP-dependent RNA helicase DHX40 (EC:3.6.4.13)
Alternative name(s):
DEAH box protein 40
Protein PAD
Gene namesi
Name:DHX40
Synonyms:DDX40
ORF Names:ARG147
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:18018. DHX40.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27227.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 779779Probable ATP-dependent RNA helicase DHX40PRO_0000252395Add
BLAST

Proteomic databases

MaxQBiQ8IX18.
PaxDbiQ8IX18.
PRIDEiQ8IX18.

PTM databases

PhosphoSiteiQ8IX18.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiQ8IX18.
CleanExiHS_DHX40.
ExpressionAtlasiQ8IX18. baseline and differential.
GenevestigatoriQ8IX18.

Organism-specific databases

HPAiHPA044350.

Interactioni

Protein-protein interaction databases

BioGridi122790. 15 interactions.
IntActiQ8IX18. 2 interactions.
STRINGi9606.ENSP00000251241.

Structurei

3D structure databases

ProteinModelPortaliQ8IX18.
SMRiQ8IX18. Positions 53-230, 455-707.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini63 – 231169Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini263 – 442180Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi173 – 1764DEAH box

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiCOG1643.
GeneTreeiENSGT00770000120489.
HOVERGENiHBG039428.
InParanoidiQ8IX18.
OMAiVHDVIRF.
OrthoDBiEOG7QRQT3.
PhylomeDBiQ8IX18.
TreeFamiTF332290.

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. 1 hit.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IX18-1) [UniParc]FASTAAdd to Basket

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
MSRFPAVAGR APRRQEEGER SRDLQEERLS AVCIADREEK GCTSQEGGTT
60 70 80 90 100
PTFPIQKQRK KIIQAVRDNS FLIVTGNTGS GKTTQLPKYL YEAGFSQHGM
110 120 130 140 150
IGVTQPRKVA AISVAQRVAE EMKCTLGSKV GYQVRFDDCS SKETAIKYMT
160 170 180 190 200
DGCLLKHILG DPNLTKFSVI ILDEAHERTL TTDILFGLLK KLFQEKSPNR
210 220 230 240 250
KEHLKVVVMS ATMELAKLSA FFGNCPIFDI PGRLYPVREK FCNLIGPRDR
260 270 280 290 300
ENTAYIQAIV KVTMDIHLNE MAGDILVFLT GQFEIEKSCE LLFQMAESVD
310 320 330 340 350
YDYDVQDTTL DGLLILPCYG SMTTDQQRRI FLPPPPGIRK CVISTNISAT
360 370 380 390 400
SLTIDGIRYV VDGGFVKQLN HNPRLGLDIL EVVPISKSEA LQRSGRAGRT
410 420 430 440 450
SSGKCFRIYS KDFWNQCMPD HVIPEIKRTS LTSVVLTLKC LAIHDVIRFP
460 470 480 490 500
YLDPPNERLI LEALKQLYQC DAIDRSGHVT RLGLSMVEFP LPPHLTCAVI
510 520 530 540 550
KAASLDCEDL LLPIAAMLSV ENVFIRPVDP EYQKEAEQRH RELAAKAGGF
560 570 580 590 600
NDFATLAVIF EQCKSSGAPA SWCQKHWIHW RCLFSAFRVE AQLRELIRKL
610 620 630 640 650
KQQSDFPKET FEGPKHEVLR RCLCAGYFKN VARRSVGRTF CTMDGRGSPV
660 670 680 690 700
HIHPSSALHE QETKLEWIIF HEVLVTTKVY ARIVCPIRYE WVRDLLPKLH
710 720 730 740 750
EFNAHDLSSV ARREVREDAR RRWTNKENVK QLKDGISKDV LKKMQRRNDD
760 770
KSISDARARF LERKQQRTQD HSDTRKETG
Length:779
Mass (Da):88,560
Last modified:October 17, 2006 - v2
Checksum:iB49A996C51986827
GO
Isoform 2 (identifier: Q8IX18-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: Missing.
     326-326: Q → QQRRIFLPPPPGIRKCVISTNISATSLTIDGIRYVVDGGFVKQLNHNPRLGLE

Note: No experimental confirmation available.

Show »
Length:732
Mass (Da):83,320
Checksum:i9372AC4F43466126
GO
Isoform 3 (identifier: Q8IX18-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     716-722: REDARRR → MKIYYFQ
     723-779: Missing.

Note: No experimental confirmation available.

Show »
Length:722
Mass (Da):81,797
Checksum:i889558EDAAF6E5F6
GO
Isoform 4 (identifier: Q8IX18-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     66-142: Missing.

Note: Gene prediction based on EST data.

Show »
Length:702
Mass (Da):80,221
Checksum:iDE23745E99819ED8
GO

Sequence cautioni

The sequence AAF70326.1 differs from that shown. Reason: Frameshift at position 758. Curated
The sequence AAK32122.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB15226.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti261 – 2611K → E in AAN77932. (PubMed:12522690)Curated
Sequence conflicti449 – 4491F → V in AAF70326. 1 PublicationCurated
Sequence conflicti643 – 6431M → V in AAN77932. (PubMed:12522690)Curated
Sequence conflicti672 – 6721E → G in AAK32122. 1 PublicationCurated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9999Missing in isoform 2. 1 PublicationVSP_020932Add
BLAST
Alternative sequencei66 – 14277Missing in isoform 4. CuratedVSP_046973Add
BLAST
Alternative sequencei326 – 3261Q → QQRRIFLPPPPGIRKCVIST NISATSLTIDGIRYVVDGGF VKQLNHNPRLGLE in isoform 2. 1 PublicationVSP_020933
Alternative sequencei716 – 7227REDARRR → MKIYYFQ in isoform 3. 1 PublicationVSP_020934
Alternative sequencei723 – 77957Missing in isoform 3. 1 PublicationVSP_020935Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11617.1. [Q8IX18-1]
CCDS54150.1. [Q8IX18-4]
RefSeqiNP_001159773.1. NM_001166301.1. [Q8IX18-4]
NP_078888.4. NM_024612.4. [Q8IX18-1]
UniGeneiHs.29403.

Genome annotation databases

EnsembliENST00000251241; ENSP00000251241; ENSG00000108406. [Q8IX18-1]
ENST00000425628; ENSP00000388749; ENSG00000108406. [Q8IX18-4]
GeneIDi79665.
KEGGihsa:79665.
UCSCiuc002ixn.2. human. [Q8IX18-1]

Polymorphism databases

DMDMi116247771.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS11617.1. [Q8IX18-1 ]
CCDS54150.1. [Q8IX18-4 ]
RefSeqi NP_001159773.1. NM_001166301.1. [Q8IX18-4 ]
NP_078888.4. NM_024612.4. [Q8IX18-1 ]
UniGenei Hs.29403.

3D structure databases

ProteinModelPortali Q8IX18.
SMRi Q8IX18. Positions 53-230, 455-707.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122790. 15 interactions.
IntActi Q8IX18. 2 interactions.
STRINGi 9606.ENSP00000251241.

PTM databases

PhosphoSitei Q8IX18.

Polymorphism databases

DMDMi 116247771.

Proteomic databases

MaxQBi Q8IX18.
PaxDbi Q8IX18.
PRIDEi Q8IX18.

Protocols and materials databases

DNASUi 79665.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251241 ; ENSP00000251241 ; ENSG00000108406 . [Q8IX18-1 ]
ENST00000425628 ; ENSP00000388749 ; ENSG00000108406 . [Q8IX18-4 ]
GeneIDi 79665.
KEGGi hsa:79665.
UCSCi uc002ixn.2. human. [Q8IX18-1 ]

Organism-specific databases

CTDi 79665.
GeneCardsi GC17P057642.
HGNCi HGNC:18018. DHX40.
HPAi HPA044350.
MIMi 607570. gene.
neXtProti NX_Q8IX18.
PharmGKBi PA27227.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1643.
GeneTreei ENSGT00770000120489.
HOVERGENi HBG039428.
InParanoidi Q8IX18.
OMAi VHDVIRF.
OrthoDBi EOG7QRQT3.
PhylomeDBi Q8IX18.
TreeFami TF332290.

Miscellaneous databases

ChiTaRSi DHX40. human.
GenomeRNAii 79665.
NextBioi 35487494.
PROi Q8IX18.
SOURCEi Search...

Gene expression databases

Bgeei Q8IX18.
CleanExi HS_DHX40.
ExpressionAtlasi Q8IX18. baseline and differential.
Genevestigatori Q8IX18.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR011545. 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 ]
Pfami PF00270. DEAD. 1 hit.
PF04408. HA2. 1 hit.
PF00271. Helicase_C. 1 hit.
PF07717. OB_NTP_bind. 1 hit.
[Graphical view ]
SMARTi SM00487. DEXDc. 1 hit.
SM00847. HA2. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiDHX40_HUMAN
AccessioniPrimary (citable) accession number: Q8IX18
Secondary accession number(s): B3KTJ5
, C9JR60, Q5JPH4, Q8TC86, Q8WY53, Q9BXM1, Q9H6M9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: November 26, 2014
This is version 104 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3