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   24-JAN-2024, entry version 171.
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; 243.
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; 9606-ENSP00000251241; -.
DR   PeptideAtlas; Q8IX18; -.
DR   ProteomicsDB; 11330; -.
DR   ProteomicsDB; 70964; -. [Q8IX18-1]
DR   ProteomicsDB; 70965; -. [Q8IX18-2]
DR   ProteomicsDB; 70966; -. [Q8IX18-3]
DR   Pumba; Q8IX18; -.
DR   Antibodypedia; 52618; 44 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   AGR; HGNC:18018; -.
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; VTSKPFM; -.
DR   OrthoDB; 5488182at2759; -.
DR   PhylomeDB; Q8IX18; -.
DR   TreeFam; TF332290; -.
DR   PathwayCommons; Q8IX18; -.
DR   SignaLink; Q8IX18; -.
DR   BioGRID-ORCS; 79665; 19 hits in 1155 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 216 other cell types or tissues.
DR   ExpressionAtlas; Q8IX18; baseline and differential.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0016887; F:ATP hydrolysis activity; IEA:RHEA.
DR   GO; GO:0004386; F:helicase activity; IBA:GO_Central.
DR   GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR   GO; GO:0003724; F:RNA helicase activity; IEA:UniProtKB-EC.
DR   CDD; cd17984; DEXHc_DHX40; 1.
DR   CDD; cd18791; SF2_C_RHA; 1.
DR   Gene3D; 1.20.120.1080; -; 1.
DR   Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 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; IPR048333; HA2_WH.
DR   InterPro; IPR007502; Helicase-assoc_dom.
DR   InterPro; IPR014001; Helicase_ATP-bd.
DR   InterPro; IPR001650; Helicase_C.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   PANTHER; PTHR18934; ATP-DEPENDENT RNA HELICASE; 1.
DR   PANTHER; PTHR18934:SF234; ATP-DEPENDENT RNA HELICASE DHX40-RELATED; 1.
DR   Pfam; PF00270; DEAD; 1.
DR   Pfam; PF21010; HA2_C; 1.
DR   Pfam; PF04408; HA2_N; 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; P-loop containing nucleoside triphosphate hydrolases; 1.
DR   PROSITE; PS00690; DEAH_ATP_HELICASE; 1.
DR   PROSITE; PS51192; HELICASE_ATP_BIND_1; 1.
DR   PROSITE; PS51194; HELICASE_CTER; 1.
DR   Genevisible; Q8IX18; HS.
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
//