DQX1_HUMAN
ID DQX1_HUMAN Reviewed; 717 AA.
AC Q8TE96; Q6B017; Q8NAM8;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=ATP-dependent RNA helicase DQX1;
DE EC=3.6.4.12;
DE AltName: Full=DEAQ box polypeptide 1;
GN Name=DQX1;
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).
RX PubMed=11353393; DOI=10.1007/s003350020032;
RA Ji W., Chen F., Do T., Do A., Roe B.A., Meisler M.H.;
RT "DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression
RT pattern and genomic sequence comparison of the human and mouse genes.";
RL Mamm. Genome 12:456-461(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
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=3.6.4.12;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8TE96-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TE96-2; Sequence=VSP_024470;
CC Name=3;
CC IsoId=Q8TE96-3; Sequence=VSP_024471, VSP_024472;
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DR EMBL; AK074337; BAB85056.1; -; mRNA.
DR EMBL; AK092420; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC005041; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC075018; AAH75018.1; -; mRNA.
DR CCDS; CCDS1949.2; -. [Q8TE96-1]
DR RefSeq; NP_598376.2; NM_133637.2. [Q8TE96-1]
DR RefSeq; XP_011530946.1; XM_011532644.1.
DR AlphaFoldDB; Q8TE96; -.
DR SMR; Q8TE96; -.
DR BioGRID; 127915; 27.
DR IntAct; Q8TE96; 14.
DR MINT; Q8TE96; -.
DR STRING; 9606.ENSP00000384621; -.
DR iPTMnet; Q8TE96; -.
DR PhosphoSitePlus; Q8TE96; -.
DR BioMuta; DQX1; -.
DR DMDM; 145558898; -.
DR MassIVE; Q8TE96; -.
DR MaxQB; Q8TE96; -.
DR PaxDb; Q8TE96; -.
DR PeptideAtlas; Q8TE96; -.
DR PRIDE; Q8TE96; -.
DR ProteomicsDB; 74424; -. [Q8TE96-1]
DR ProteomicsDB; 74425; -. [Q8TE96-2]
DR ProteomicsDB; 74426; -. [Q8TE96-3]
DR Antibodypedia; 47481; 133 antibodies from 25 providers.
DR DNASU; 165545; -.
DR Ensembl; ENST00000393951.6; ENSP00000377523.2; ENSG00000144045.14. [Q8TE96-1]
DR Ensembl; ENST00000404568.4; ENSP00000384621.3; ENSG00000144045.14. [Q8TE96-1]
DR GeneID; 165545; -.
DR KEGG; hsa:165545; -.
DR MANE-Select; ENST00000404568.4; ENSP00000384621.3; NM_133637.3; NP_598376.2.
DR UCSC; uc010yrw.3; human. [Q8TE96-1]
DR CTD; 165545; -.
DR DisGeNET; 165545; -.
DR GeneCards; DQX1; -.
DR HGNC; HGNC:20410; DQX1.
DR HPA; ENSG00000144045; Tissue enriched (intestine).
DR neXtProt; NX_Q8TE96; -.
DR OpenTargets; ENSG00000144045; -.
DR PharmGKB; PA134916600; -.
DR VEuPathDB; HostDB:ENSG00000144045; -.
DR eggNOG; KOG0925; Eukaryota.
DR GeneTree; ENSGT00940000159579; -.
DR HOGENOM; CLU_001832_5_7_1; -.
DR InParanoid; Q8TE96; -.
DR OMA; VLYHNFS; -.
DR OrthoDB; 354219at2759; -.
DR PhylomeDB; Q8TE96; -.
DR TreeFam; TF105735; -.
DR PathwayCommons; Q8TE96; -.
DR SignaLink; Q8TE96; -.
DR BioGRID-ORCS; 165545; 7 hits in 1073 CRISPR screens.
DR GenomeRNAi; 165545; -.
DR Pharos; Q8TE96; Tdark.
DR PRO; PR:Q8TE96; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8TE96; protein.
DR Bgee; ENSG00000144045; Expressed in mucosa of transverse colon and 109 other tissues.
DR ExpressionAtlas; Q8TE96; baseline and differential.
DR Genevisible; Q8TE96; HS.
DR GO; GO:0005681; C:spliceosomal complex; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IEA:RHEA.
DR GO; GO:0003678; F:DNA helicase activity; IEA:UniProtKB-EC.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR Gene3D; 3.40.50.300; -; 2.
DR InterPro; IPR011709; DEAD-box_helicase_OB_fold.
DR InterPro; IPR007502; Helicase-assoc_dom.
DR InterPro; IPR014001; Helicase_ATP-bd.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF04408; HA2; 1.
DR Pfam; PF07717; OB_NTP_bind; 1.
DR SMART; SM00487; DEXDc; 1.
DR SMART; SM00847; HA2; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS51192; HELICASE_ATP_BIND_1; 1.
DR PROSITE; PS51194; HELICASE_CTER; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Helicase; Hydrolase; Nucleotide-binding;
KW Nucleus; Reference proteome.
FT CHAIN 1..717
FT /note="ATP-dependent RNA helicase DQX1"
FT /id="PRO_0000284377"
FT DOMAIN 57..225
FT /note="Helicase ATP-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT DOMAIN 248..447
FT /note="Helicase C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00542"
FT REGION 694..717
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 170..173
FT /note="DEAQ box"
FT COMPBIAS 695..711
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 70..77
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT VAR_SEQ 1..118
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_024470"
FT VAR_SEQ 350..357
FT /note="YNPRIRAE -> SEREIAVG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024471"
FT VAR_SEQ 358..717
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024472"
FT CONFLICT 61
FT /note="N -> S (in Ref. 2; AK092420)"
FT /evidence="ECO:0000305"
FT CONFLICT 125
FT /note="H -> R (in Ref. 2; AK092420)"
FT /evidence="ECO:0000305"
FT CONFLICT 129
FT /note="Y -> S (in Ref. 2; BAB85056)"
FT /evidence="ECO:0000305"
FT CONFLICT 598
FT /note="G -> E (in Ref. 2; BAB85056)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 717 AA; 79476 MW; E7EF8090243F0CAB CRC64;
MTSQPLRLAE EYGPSPGESE LAVNPFDGLP FSSRYYELLK QRQALPIWAA RFTFLEQLES
NPTGVVLVSG EPGSGKSTQI PQWCAEFALA RGFQKGQVTV TQPYPLAARS LALRVADEMD
LTLGHEVGYS IPQEDCTGPN TLLRFCWDRL LLQEVASTRG TGAWGVLVLD EAQERSVASD
SLQGLLQDAR LEKLPGDLRV VVVTDPALEP KLRAFWGNPP IVHIPREPGE RPSPIYWDTI
PPDRVEAACQ AVLELCRKEL PGDVLVFLPS EEEISLCCES LSREVESLLL QGLPPRVLPL
HPDCGRAVQA VYEDMDARKV VVTHWLADFS FSLPSIQHVI DSGLELRSVY NPRIRAEFQV
LRPISKCQAE ARRLRARGFP PGSCLCLYPK SFLELEAPPL PQPRVCEENL SSLVLLLKRR
QIAEPGECHF LDQPAPEALM QALEDLDYLA ALDDDGDLSD LGVILSEFPL APELAKALLA
SCEFDCVDEM LTLAAMLTAA PGFTRPPLSA EEAALRRALE HTDGDHSSLI QVYEAFIQSG
ADEAWCQARG LNWAALCQAH KLRGELLELM QRIELPLSLP AFGSEQNRRD LQKALVSGYF
LKVARDTDGT GNYLLLTHKH VAQLSSYCCY RSRRAPARPP PWVLYHNFTI SKDNCLSIVS
EIQPQMLVEL APPYFLSNLP PSESRDLLNQ LREGMADSTA GSKSSSAQEF RDPCVLQ
