DHX40_HUMAN
ID DHX40_HUMAN Reviewed; 779 AA.
AC Q8IX18; B3KTJ5; C9JR60; Q5JPH4; Q8TC86; Q8WY53; Q9BXM1; Q9H6M9;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Probable ATP-dependent RNA helicase DHX40;
DE EC=3.6.4.13;
DE AltName: Full=DEAH box protein 40;
DE AltName: Full=Protein PAD;
GN Name=DHX40; Synonyms=DDX40; ORFNames=ARG147;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=12522690; DOI=10.1007/s100380200104;
RA Xu J., Wu H., Zhang C., Cao Y., Wang L., Zeng L., Ye X., Wu Q., Dai J.,
RA Xie Y., Mao Y.;
RT "Identification of a novel human DDX40 gene, a new member of the DEAH-box
RT protein family.";
RL J. Hum. Genet. 47:681-683(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Wu G.-J., Couch F.J.;
RT "Five novel genes from 17q23 amplicon have different amplification and
RT overexpression frequency in breast cancer.";
RL Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 213-779.
RC TISSUE=Lymph node;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 327-779 (ISOFORM 3).
RC TISSUE=Stomach cancer;
RA Yanqiu Z., Huazhang A., Fei L., Yongquan S., Xin W., Taidong Q., Baojun C.,
RA Kaichun W., Jie D., Daiming F.;
RT "Gene cloning of human adenocarcinoma cell line.";
RL Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Probable ATP-dependent RNA helicase. {ECO:0000250}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065,
CC ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616,
CC ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;
CC -!- INTERACTION:
CC Q8IX18; O43586: PSTPIP1; NbExp=3; IntAct=EBI-2514301, EBI-1050964;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8IX18-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IX18-2; Sequence=VSP_020932, VSP_020933;
CC Name=3;
CC IsoId=Q8IX18-3; Sequence=VSP_020934, VSP_020935;
CC Name=4;
CC IsoId=Q8IX18-4; Sequence=VSP_046973;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC {ECO:0000269|PubMed:12522690}.
CC -!- SIMILARITY: Belongs to the DEAD box helicase family. DEAH subfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF70326.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAK32122.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB15226.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF461690; AAN77932.1; -; mRNA.
DR EMBL; AF260270; AAF70326.1; ALT_FRAME; mRNA.
DR EMBL; AK025713; BAB15226.1; ALT_INIT; mRNA.
DR EMBL; AK095681; BAG53107.1; -; mRNA.
DR EMBL; AC004167; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC091271; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC024187; AAH24187.1; -; mRNA.
DR EMBL; AL832510; CAI46197.1; -; mRNA.
DR EMBL; AF319521; AAK32122.1; ALT_INIT; mRNA.
DR CCDS; CCDS11617.1; -. [Q8IX18-1]
DR CCDS; CCDS54150.1; -. [Q8IX18-4]
DR RefSeq; NP_001159773.1; NM_001166301.1. [Q8IX18-4]
DR RefSeq; NP_078888.4; NM_024612.4. [Q8IX18-1]
DR AlphaFoldDB; Q8IX18; -.
DR SMR; Q8IX18; -.
DR BioGRID; 122790; 225.
DR IntAct; Q8IX18; 20.
DR MINT; Q8IX18; -.
DR STRING; 9606.ENSP00000251241; -.
DR iPTMnet; Q8IX18; -.
DR PhosphoSitePlus; Q8IX18; -.
DR BioMuta; DHX40; -.
DR DMDM; 116247771; -.
DR EPD; Q8IX18; -.
DR jPOST; Q8IX18; -.
DR MassIVE; Q8IX18; -.
DR MaxQB; Q8IX18; -.
DR PaxDb; Q8IX18; -.
DR PeptideAtlas; Q8IX18; -.
DR PRIDE; Q8IX18; -.
DR ProteomicsDB; 11330; -.
DR ProteomicsDB; 70964; -. [Q8IX18-1]
DR ProteomicsDB; 70965; -. [Q8IX18-2]
DR ProteomicsDB; 70966; -. [Q8IX18-3]
DR Antibodypedia; 52618; 33 antibodies from 13 providers.
DR DNASU; 79665; -.
DR Ensembl; ENST00000251241.9; ENSP00000251241.4; ENSG00000108406.10. [Q8IX18-1]
DR Ensembl; ENST00000425628.7; ENSP00000388749.3; ENSG00000108406.10. [Q8IX18-4]
DR GeneID; 79665; -.
DR KEGG; hsa:79665; -.
DR MANE-Select; ENST00000251241.9; ENSP00000251241.4; NM_024612.5; NP_078888.4.
DR UCSC; uc002ixn.3; human. [Q8IX18-1]
DR CTD; 79665; -.
DR DisGeNET; 79665; -.
DR GeneCards; DHX40; -.
DR HGNC; HGNC:18018; DHX40.
DR HPA; ENSG00000108406; Low tissue specificity.
DR MIM; 607570; gene.
DR neXtProt; NX_Q8IX18; -.
DR OpenTargets; ENSG00000108406; -.
DR PharmGKB; PA27227; -.
DR VEuPathDB; HostDB:ENSG00000108406; -.
DR eggNOG; KOG0922; Eukaryota.
DR GeneTree; ENSGT00940000158902; -.
DR HOGENOM; CLU_001832_5_11_1; -.
DR InParanoid; Q8IX18; -.
DR OMA; RRKWTNK; -.
DR OrthoDB; 354219at2759; -.
DR PhylomeDB; Q8IX18; -.
DR TreeFam; TF332290; -.
DR PathwayCommons; Q8IX18; -.
DR SignaLink; Q8IX18; -.
DR BioGRID-ORCS; 79665; 17 hits in 1078 CRISPR screens.
DR ChiTaRS; DHX40; human.
DR GenomeRNAi; 79665; -.
DR Pharos; Q8IX18; Tdark.
DR PRO; PR:Q8IX18; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8IX18; protein.
DR Bgee; ENSG00000108406; Expressed in ventricular zone and 214 other tissues.
DR ExpressionAtlas; Q8IX18; baseline and differential.
DR Genevisible; Q8IX18; HS.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IEA:RHEA.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR GO; GO:0003724; F:RNA helicase activity; IEA:UniProtKB-EC.
DR Gene3D; 3.40.50.300; -; 2.
DR InterPro; IPR011709; DEAD-box_helicase_OB_fold.
DR InterPro; IPR011545; DEAD/DEAH_box_helicase_dom.
DR InterPro; IPR002464; DNA/RNA_helicase_DEAH_CS.
DR InterPro; IPR007502; Helicase-assoc_dom.
DR InterPro; IPR014001; Helicase_ATP-bd.
DR InterPro; IPR001650; Helicase_C.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF00270; DEAD; 1.
DR Pfam; PF04408; HA2; 1.
DR Pfam; PF00271; Helicase_C; 1.
DR Pfam; PF07717; OB_NTP_bind; 1.
DR SMART; SM00487; DEXDc; 1.
DR SMART; SM00847; HA2; 1.
DR SMART; SM00490; HELICc; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS00690; DEAH_ATP_HELICASE; 1.
DR PROSITE; PS51192; HELICASE_ATP_BIND_1; 1.
DR PROSITE; PS51194; HELICASE_CTER; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Helicase; Hydrolase; Nucleotide-binding;
KW Reference proteome.
FT CHAIN 1..779
FT /note="Probable ATP-dependent RNA helicase DHX40"
FT /id="PRO_0000252395"
FT DOMAIN 63..231
FT /note="Helicase ATP-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT DOMAIN 263..442
FT /note="Helicase C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00542"
FT REGION 1..28
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 737..779
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 173..176
FT /note="DEAH box"
FT COMPBIAS 10..28
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 76..83
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT VAR_SEQ 1..99
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_020932"
FT VAR_SEQ 66..142
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_046973"
FT VAR_SEQ 326
FT /note="Q -> QQRRIFLPPPPGIRKCVISTNISATSLTIDGIRYVVDGGFVKQLNHN
FT PRLGLE (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_020933"
FT VAR_SEQ 716..722
FT /note="REDARRR -> MKIYYFQ (in isoform 3)"
FT /evidence="ECO:0000303|Ref.7"
FT /id="VSP_020934"
FT VAR_SEQ 723..779
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.7"
FT /id="VSP_020935"
FT CONFLICT 261
FT /note="K -> E (in Ref. 1; AAN77932)"
FT /evidence="ECO:0000305"
FT CONFLICT 449
FT /note="F -> V (in Ref. 2; AAF70326)"
FT /evidence="ECO:0000305"
FT CONFLICT 643
FT /note="M -> V (in Ref. 1; AAN77932)"
FT /evidence="ECO:0000305"
FT CONFLICT 672
FT /note="E -> G (in Ref. 7; AAK32122)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 779 AA; 88560 MW; B49A996C51986827 CRC64;
MSRFPAVAGR APRRQEEGER SRDLQEERLS AVCIADREEK GCTSQEGGTT PTFPIQKQRK
KIIQAVRDNS FLIVTGNTGS GKTTQLPKYL YEAGFSQHGM IGVTQPRKVA AISVAQRVAE
EMKCTLGSKV GYQVRFDDCS SKETAIKYMT DGCLLKHILG DPNLTKFSVI ILDEAHERTL
TTDILFGLLK KLFQEKSPNR KEHLKVVVMS ATMELAKLSA FFGNCPIFDI PGRLYPVREK
FCNLIGPRDR ENTAYIQAIV KVTMDIHLNE MAGDILVFLT GQFEIEKSCE LLFQMAESVD
YDYDVQDTTL DGLLILPCYG SMTTDQQRRI FLPPPPGIRK CVISTNISAT SLTIDGIRYV
VDGGFVKQLN HNPRLGLDIL EVVPISKSEA LQRSGRAGRT SSGKCFRIYS KDFWNQCMPD
HVIPEIKRTS LTSVVLTLKC LAIHDVIRFP YLDPPNERLI LEALKQLYQC DAIDRSGHVT
RLGLSMVEFP LPPHLTCAVI KAASLDCEDL LLPIAAMLSV ENVFIRPVDP EYQKEAEQRH
RELAAKAGGF NDFATLAVIF EQCKSSGAPA SWCQKHWIHW RCLFSAFRVE AQLRELIRKL
KQQSDFPKET FEGPKHEVLR RCLCAGYFKN VARRSVGRTF CTMDGRGSPV HIHPSSALHE
QETKLEWIIF HEVLVTTKVY ARIVCPIRYE WVRDLLPKLH EFNAHDLSSV ARREVREDAR
RRWTNKENVK QLKDGISKDV LKKMQRRNDD KSISDARARF LERKQQRTQD HSDTRKETG
