DDX43_HUMAN
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 03-AUG-2022, entry version 166.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLU-625 AND ARG-629, AND
RP 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-specific
RT expression.";
RL Cancer Res. 60:3848-3855(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS GLU-625
RP 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., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 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., 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=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., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., 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., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA 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 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=3.6.4.13;
CC -!- INTERACTION:
CC Q9NXZ2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10316543, EBI-3867333;
CC Q9NXZ2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-10316543, EBI-10171774;
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 -!- TISSUE SPECIFICITY: Expressed in testis. Expressed in many tumors of
CC various histological types at a level that is 100-fold higher than the
CC level observed in normal tissues except testis.
CC {ECO:0000269|PubMed:10919659}.
CC -!- SIMILARITY: Belongs to the DEAD box helicase family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/DDX43ID40288ch6q13.html";
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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 AlphaFoldDB; Q9NXZ2; -.
DR SMR; Q9NXZ2; -.
DR BioGRID; 120690; 20.
DR IntAct; Q9NXZ2; 6.
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 Antibodypedia; 31333; 150 antibodies from 25 providers.
DR DNASU; 55510; -.
DR Ensembl; ENST00000370336.5; ENSP00000359361.4; ENSG00000080007.8. [Q9NXZ2-1]
DR GeneID; 55510; -.
DR KEGG; hsa:55510; -.
DR MANE-Select; ENST00000370336.5; ENSP00000359361.4; NM_018665.3; NP_061135.2.
DR UCSC; uc003pgw.4; human. [Q9NXZ2-1]
DR CTD; 55510; -.
DR DisGeNET; 55510; -.
DR GeneCards; DDX43; -.
DR HGNC; HGNC:18677; DDX43.
DR HPA; ENSG00000080007; Group enriched (placenta, testis).
DR MIM; 606286; gene.
DR neXtProt; NX_Q9NXZ2; -.
DR OpenTargets; ENSG00000080007; -.
DR PharmGKB; PA134988734; -.
DR VEuPathDB; HostDB:ENSG00000080007; -.
DR eggNOG; KOG0336; Eukaryota.
DR GeneTree; ENSGT00940000164259; -.
DR HOGENOM; CLU_003041_16_8_1; -.
DR InParanoid; Q9NXZ2; -.
DR OMA; QVQIDNW; -.
DR OrthoDB; 471730at2759; -.
DR PhylomeDB; Q9NXZ2; -.
DR TreeFam; TF312949; -.
DR PathwayCommons; Q9NXZ2; -.
DR SignaLink; Q9NXZ2; -.
DR BioGRID-ORCS; 55510; 13 hits in 1065 CRISPR screens.
DR ChiTaRS; DDX43; human.
DR GeneWiki; DDX43; -.
DR GenomeRNAi; 55510; -.
DR Pharos; Q9NXZ2; Tbio.
DR PRO; PR:Q9NXZ2; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9NXZ2; protein.
DR Bgee; ENSG00000080007; Expressed in oocyte and 113 other tissues.
DR Genevisible; Q9NXZ2; 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; IBA:GO_Central.
DR Gene3D; 3.30.1370.10; -; 1.
DR Gene3D; 3.40.50.300; -; 2.
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 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Helicase; Hydrolase; Nucleotide-binding;
KW Reference proteome; RNA-binding.
FT CHAIN 1..648
FT /note="Probable ATP-dependent RNA helicase DDX43"
FT /id="PRO_0000054972"
FT DOMAIN 67..128
FT /note="KH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00117"
FT DOMAIN 273..448
FT /note="Helicase ATP-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT DOMAIN 460..621
FT /note="Helicase C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00542"
FT REGION 1..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 628..648
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 242..270
FT /note="Q motif"
FT MOTIF 396..399
FT /note="DEAD box"
FT BINDING 286..293
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT VAR_SEQ 190..195
FT /note="DLPPIK -> GKKILI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056955"
FT VAR_SEQ 196..648
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056956"
FT VARIANT 625
FT /note="K -> E (in dbSNP:rs311686)"
FT /evidence="ECO:0000269|PubMed:10919659,
FT ECO:0000269|PubMed:11230166"
FT /id="VAR_057234"
FT VARIANT 629
FT /note="Q -> R (in dbSNP:rs311685)"
FT /evidence="ECO:0000269|PubMed:10919659,
FT ECO:0000269|PubMed:11230166"
FT /id="VAR_057235"
FT CONFLICT 60
FT /note="A -> D (in Ref. 5; AAH66938)"
FT /evidence="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
