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Database: UniProt
Entry: Q9NXZ2
LinkDB: Q9NXZ2
Original site: Q9NXZ2 
ID   DDX43_HUMAN             Reviewed;         648 AA.
AC   Q9NXZ2; B4E0C8; Q6NXR1;
DT   25-OCT-2005, integrated into UniProtKB/Swiss-Prot.
DT   17-APR-2007, sequence version 2.
DT   16-OCT-2019, entry version 152.
DE   RecName: Full=Probable ATP-dependent RNA helicase DDX43;
DE            EC=3.6.4.13;
DE   AltName: Full=Cancer/testis antigen 13;
DE            Short=CT13;
DE   AltName: Full=DEAD box protein 43;
DE   AltName: Full=DEAD box protein HAGE;
DE   AltName: Full=Helical antigen;
GN   Name=DDX43; Synonyms=HAGE;
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), VARIANTS GLU-625 AND ARG-629,
RP   AND TISSUE SPECIFICITY.
RX   PubMed=10919659;
RA   Martelange V.M.F., De Smet C., De Plaen E., Lurquin C., Boon T.;
RT   "Identification on a human sarcoma of two new genes with tumor-
RT   specific expression.";
RL   Cancer Res. 60:3848-3855(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP   GLU-625 AND ARG-629.
RC   TISSUE=Testis;
RX   PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA   Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA   Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
RA   Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
RA   Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
RA   Wambutt R., Korn B., Klein M., Poustka A.;
RT   "Towards a catalog of human genes and proteins: sequencing and
RT   analysis of 500 novel complete protein coding human cDNAs.";
RL   Genome Res. 11:422-435(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Thymus;
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA   Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA   Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA   Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA   Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA   Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA   Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA   Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA   Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA   Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA   Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA   Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA   Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA   Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA   McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA   Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA   Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA   Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA   Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA   Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA   Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA   Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA   Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA   Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA   Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
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
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=3.6.4.13;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9NXZ2-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9NXZ2-2; Sequence=VSP_056955, VSP_056956;
CC         Note=No experimental confirmation available.;
CC   -!- TISSUE SPECIFICITY: Expressed in testis. Expressed in many tumors
CC       of various histological types at a level that is 100-fold higher
CC       than the level observed in normal tissues except testis.
CC       {ECO:0000269|PubMed:10919659}.
CC   -!- SIMILARITY: Belongs to the DEAD box helicase family.
CC       {ECO:0000305}.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC       and Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/DDX43ID40288ch6q13.html";
DR   EMBL; AJ278110; CAB92442.1; -; mRNA.
DR   EMBL; AL136751; CAB66685.1; -; mRNA.
DR   EMBL; AK303324; BAG64390.1; -; mRNA.
DR   EMBL; AC019205; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC066938; AAH66938.1; -; mRNA.
DR   CCDS; CCDS4977.1; -. [Q9NXZ2-1]
DR   RefSeq; NP_061135.2; NM_018665.2. [Q9NXZ2-1]
DR   SMR; Q9NXZ2; -.
DR   BioGrid; 120690; 12.
DR   IntAct; Q9NXZ2; 5.
DR   MINT; Q9NXZ2; -.
DR   STRING; 9606.ENSP00000359361; -.
DR   iPTMnet; Q9NXZ2; -.
DR   PhosphoSitePlus; Q9NXZ2; -.
DR   BioMuta; DDX43; -.
DR   DMDM; 145559466; -.
DR   EPD; Q9NXZ2; -.
DR   MassIVE; Q9NXZ2; -.
DR   MaxQB; Q9NXZ2; -.
DR   PaxDb; Q9NXZ2; -.
DR   PeptideAtlas; Q9NXZ2; -.
DR   PRIDE; Q9NXZ2; -.
DR   ProteomicsDB; 5666; -.
DR   ProteomicsDB; 83146; -. [Q9NXZ2-1]
DR   DNASU; 55510; -.
DR   Ensembl; ENST00000370336; ENSP00000359361; ENSG00000080007. [Q9NXZ2-1]
DR   GeneID; 55510; -.
DR   KEGG; hsa:55510; -.
DR   UCSC; uc003pgw.4; human. [Q9NXZ2-1]
DR   CTD; 55510; -.
DR   DisGeNET; 55510; -.
DR   GeneCards; DDX43; -.
DR   HGNC; HGNC:18677; DDX43.
DR   HPA; HPA031381; -.
DR   MIM; 606286; gene.
DR   neXtProt; NX_Q9NXZ2; -.
DR   OpenTargets; ENSG00000080007; -.
DR   PharmGKB; PA134988734; -.
DR   eggNOG; KOG0336; Eukaryota.
DR   eggNOG; ENOG410XR3V; LUCA.
DR   GeneTree; ENSGT00940000164259; -.
DR   HOGENOM; HOG000268804; -.
DR   InParanoid; Q9NXZ2; -.
DR   KO; K17043; -.
DR   OMA; GMSITLI; -.
DR   OrthoDB; 471730at2759; -.
DR   PhylomeDB; Q9NXZ2; -.
DR   TreeFam; TF312949; -.
DR   ChiTaRS; DDX43; human.
DR   GeneWiki; DDX43; -.
DR   GenomeRNAi; 55510; -.
DR   Pharos; Q9NXZ2; -.
DR   PRO; PR:Q9NXZ2; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   Bgee; ENSG00000080007; Expressed in 106 organ(s), highest expression level in oocyte.
DR   Genevisible; Q9NXZ2; HS.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005622; C:intracellular; IDA:LIFEdb.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:1990904; C:ribonucleoprotein complex; IBA:GO_Central.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR   GO; GO:0003724; F:RNA helicase activity; TAS:ProtInc.
DR   Gene3D; 3.30.1370.10; -; 1.
DR   InterPro; IPR011545; DEAD/DEAH_box_helicase_dom.
DR   InterPro; IPR014001; Helicase_ATP-bd.
DR   InterPro; IPR001650; Helicase_C.
DR   InterPro; IPR004087; KH_dom.
DR   InterPro; IPR004088; KH_dom_type_1.
DR   InterPro; IPR036612; KH_dom_type_1_sf.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   InterPro; IPR000629; RNA-helicase_DEAD-box_CS.
DR   InterPro; IPR014014; RNA_helicase_DEAD_Q_motif.
DR   Pfam; PF00270; DEAD; 1.
DR   Pfam; PF00271; Helicase_C; 1.
DR   Pfam; PF00013; KH_1; 1.
DR   SMART; SM00487; DEXDc; 1.
DR   SMART; SM00490; HELICc; 1.
DR   SMART; SM00322; KH; 1.
DR   SUPFAM; SSF52540; SSF52540; 1.
DR   SUPFAM; SSF54791; SSF54791; 1.
DR   PROSITE; PS00039; DEAD_ATP_HELICASE; 1.
DR   PROSITE; PS51192; HELICASE_ATP_BIND_1; 1.
DR   PROSITE; PS51194; HELICASE_CTER; 1.
DR   PROSITE; PS50084; KH_TYPE_1; 1.
DR   PROSITE; PS51195; Q_MOTIF; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; ATP-binding; Complete proteome; Helicase;
KW   Hydrolase; Nucleotide-binding; Polymorphism; Reference proteome;
KW   RNA-binding.
FT   CHAIN         1    648       Probable ATP-dependent RNA helicase
FT                                DDX43.
FT                                /FTId=PRO_0000054972.
FT   DOMAIN       67    128       KH. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00117}.
FT   DOMAIN      273    448       Helicase ATP-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00541}.
FT   DOMAIN      460    621       Helicase C-terminal.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00542}.
FT   NP_BIND     286    293       ATP. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00541}.
FT   MOTIF       242    270       Q motif.
FT   MOTIF       396    399       DEAD box.
FT   VAR_SEQ     190    195       DLPPIK -> GKKILI (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_056955.
FT   VAR_SEQ     196    648       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_056956.
FT   VARIANT     625    625       K -> E (in dbSNP:rs311686).
FT                                {ECO:0000269|PubMed:10919659,
FT                                ECO:0000269|PubMed:11230166}.
FT                                /FTId=VAR_057234.
FT   VARIANT     629    629       Q -> R (in dbSNP:rs311685).
FT                                {ECO:0000269|PubMed:10919659,
FT                                ECO:0000269|PubMed:11230166}.
FT                                /FTId=VAR_057235.
FT   CONFLICT     60     60       A -> D (in Ref. 5; AAH66938).
FT                                {ECO:0000305}.
SQ   SEQUENCE   648 AA;  72844 MW;  4E09F15D36EFC3E3 CRC64;
     MSHHGGAPKA STWVVASRRS STVSRAPERR PAEELNRTGP EGYSVGRGGR WRGTSRPPEA
     VAAGHEELPL CFALKSHFVG AVIGRGGSKI KNIQSTTNTT IQIIQEQPES LVKIFGSKAM
     QTKAKAVIDN FVKKLEENYN SECGIDTAFQ PSVGKDGSTD NNVVAGDRPL IDWDQIREEG
     LKWQKTKWAD LPPIKKNFYK ESTATSAMSK VEADSWRKEN FNITWDDLKD GEKRPIPNPT
     CTFDDAFQCY PEVMENIKKA GFQKPTPIQS QAWPIVLQGI DLIGVAQTGT GKTLCYLMPG
     FIHLVLQPSL KGQRNRPGML VLTPTRELAL QVEGECCKYS YKGLRSVCVY GGGNRDEQIE
     ELKKGVDIII ATPGRLNDLQ MSNFVNLKNI TYLVLDEADK MLDMGFEPQI MKILLDVRPD
     RQTVMTSATW PHSVHRLAQS YLKEPMIVYV GTLDLVAVSS VKQNIIVTTE EEKWSHMQTF
     LQSMSSTDKV IVFVSRKAVA DHLSSDLILG NISVESLHGD REQRDREKAL ENFKTGKVRI
     LIATDLASRG LDVHDVTHVY NFDFPRNIEE YVHRIGRTGR AGRTGVSITT LTRNDWRVAS
     ELINILERAN QSIPEELVSM AERFKAHQQK REMERKMERP QGRPKKFH
//
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