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Q8IX18

- DHX40_HUMAN

UniProt

Q8IX18 - DHX40_HUMAN

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
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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

    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

    ArrayExpressiQ8IX18.
    BgeeiQ8IX18.
    CleanExiHS_DHX40.
    GenevestigatoriQ8IX18.

    Organism-specific databases

    HPAiHPA044350.

    Interactioni

    Protein-protein interaction databases

    BioGridi122790. 13 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.
    HOVERGENiHBG039428.
    InParanoidiQ8IX18.
    OMAiVHDVIRF.
    OrthoDBiEOG7QRQT3.
    PhylomeDBiQ8IX18.
    TreeFamiTF332290.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR011545. 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]
    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

    MSRFPAVAGR APRRQEEGER SRDLQEERLS AVCIADREEK GCTSQEGGTT    50
    PTFPIQKQRK KIIQAVRDNS FLIVTGNTGS GKTTQLPKYL YEAGFSQHGM 100
    IGVTQPRKVA AISVAQRVAE EMKCTLGSKV GYQVRFDDCS SKETAIKYMT 150
    DGCLLKHILG DPNLTKFSVI ILDEAHERTL TTDILFGLLK KLFQEKSPNR 200
    KEHLKVVVMS ATMELAKLSA FFGNCPIFDI PGRLYPVREK FCNLIGPRDR 250
    ENTAYIQAIV KVTMDIHLNE MAGDILVFLT GQFEIEKSCE LLFQMAESVD 300
    YDYDVQDTTL DGLLILPCYG SMTTDQQRRI FLPPPPGIRK CVISTNISAT 350
    SLTIDGIRYV VDGGFVKQLN HNPRLGLDIL EVVPISKSEA LQRSGRAGRT 400
    SSGKCFRIYS KDFWNQCMPD HVIPEIKRTS LTSVVLTLKC LAIHDVIRFP 450
    YLDPPNERLI LEALKQLYQC DAIDRSGHVT RLGLSMVEFP LPPHLTCAVI 500
    KAASLDCEDL LLPIAAMLSV ENVFIRPVDP EYQKEAEQRH RELAAKAGGF 550
    NDFATLAVIF EQCKSSGAPA SWCQKHWIHW RCLFSAFRVE AQLRELIRKL 600
    KQQSDFPKET FEGPKHEVLR RCLCAGYFKN VARRSVGRTF CTMDGRGSPV 650
    HIHPSSALHE QETKLEWIIF HEVLVTTKVY ARIVCPIRYE WVRDLLPKLH 700
    EFNAHDLSSV ARREVREDAR RRWTNKENVK QLKDGISKDV LKKMQRRNDD 750
    KSISDARARF LERKQQRTQD HSDTRKETG 779
    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.
    The sequence AAK32122.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAB15226.1 differs from that shown. Reason: Erroneous initiation.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 13 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.
    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

    ArrayExpressi Q8IX18.
    Bgeei Q8IX18.
    CleanExi HS_DHX40.
    Genevestigatori Q8IX18.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR011545. 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 ]
    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

    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: October 1, 2014
    This is version 102 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