GenomeNet

Database: UniProt
Entry: Q8TE96
LinkDB: Q8TE96
Original site: Q8TE96 
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   16-OCT-2019, entry version 137.
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;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; 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:
RT   expression pattern and genomic sequence comparison of the human and
RT   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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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.,
RA   Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA   Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA   Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA   Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA   Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA   Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA   Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA   Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA   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.,
RA   Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA   Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA   Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA   Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA   Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA   Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA   Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA   Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA   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.,
RA   Waterston R.H., Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2
RT   and 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
RT   project: 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;
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   SMR; Q8TE96; -.
DR   BioGrid; 127915; 17.
DR   IntAct; Q8TE96; 14.
DR   MINT; Q8TE96; -.
DR   STRING; 9606.ENSP00000384621; -.
DR   iPTMnet; Q8TE96; -.
DR   PhosphoSitePlus; Q8TE96; -.
DR   BioMuta; DQX1; -.
DR   DMDM; 145558898; -.
DR   jPOST; Q8TE96; -.
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   Ensembl; ENST00000393951; ENSP00000377523; ENSG00000144045. [Q8TE96-1]
DR   Ensembl; ENST00000404568; ENSP00000384621; ENSG00000144045. [Q8TE96-1]
DR   GeneID; 165545; -.
DR   KEGG; hsa:165545; -.
DR   UCSC; uc010yrw.3; human. [Q8TE96-1]
DR   CTD; 165545; -.
DR   DisGeNET; 165545; -.
DR   GeneCards; DQX1; -.
DR   HGNC; HGNC:20410; DQX1.
DR   HPA; HPA039158; -.
DR   neXtProt; NX_Q8TE96; -.
DR   OpenTargets; ENSG00000144045; -.
DR   PharmGKB; PA134916600; -.
DR   eggNOG; KOG0925; Eukaryota.
DR   eggNOG; COG1643; LUCA.
DR   GeneTree; ENSGT00940000159579; -.
DR   HOGENOM; HOG000175261; -.
DR   InParanoid; Q8TE96; -.
DR   KO; K14433; -.
DR   OMA; VLYHNFS; -.
DR   OrthoDB; 354219at2759; -.
DR   PhylomeDB; Q8TE96; -.
DR   TreeFam; TF105735; -.
DR   GenomeRNAi; 165545; -.
DR   Pharos; Q8TE96; -.
DR   PRO; PR:Q8TE96; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   Bgee; ENSG00000144045; Expressed in 92 organ(s), highest expression level in transverse colon.
DR   ExpressionAtlas; Q8TE96; baseline and differential.
DR   Genevisible; Q8TE96; HS.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0003678; F:DNA helicase activity; IEA:UniProtKB-EC.
DR   GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR   InterPro; IPR011709; DUF1605.
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; 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; Complete proteome; Helicase;
KW   Hydrolase; Nucleotide-binding; Nucleus; Reference proteome.
FT   CHAIN         1    717       ATP-dependent RNA helicase DQX1.
FT                                /FTId=PRO_0000284377.
FT   DOMAIN       57    225       Helicase ATP-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00541}.
FT   DOMAIN      248    447       Helicase C-terminal.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00542}.
FT   NP_BIND      70     77       ATP. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00541}.
FT   MOTIF       170    173       DEAQ box.
FT   COMPBIAS    200    203       Poly-Val.
FT   VAR_SEQ       1    118       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039,
FT                                ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_024470.
FT   VAR_SEQ     350    357       YNPRIRAE -> SEREIAVG (in isoform 3).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_024471.
FT   VAR_SEQ     358    717       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_024472.
FT   CONFLICT     61     61       N -> S (in Ref. 2; AK092420).
FT                                {ECO:0000305}.
FT   CONFLICT    125    125       H -> R (in Ref. 2; AK092420).
FT                                {ECO:0000305}.
FT   CONFLICT    129    129       Y -> S (in Ref. 2; BAB85056).
FT                                {ECO:0000305}.
FT   CONFLICT    598    598       G -> E (in Ref. 2; BAB85056).
FT                                {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
//
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