THAP9_HUMAN
ID THAP9_HUMAN Reviewed; 903 AA.
AC Q9H5L6; B3KRE2; Q59AC9;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=DNA transposase THAP9;
DE EC=2.7.7.-;
DE AltName: Full=THAP domain-containing protein 9;
DE Short=hTh9;
GN Name=THAP9;
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 [LARGE SCALE MRNA], AND VARIANTS ILE-284; PHE-299 AND
RP ASP-812.
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 [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 351-583.
RX PubMed=15616143; DOI=10.1093/molbev/msi068;
RA Hammer S.E., Strehl S., Hagemann S.;
RT "Homologs of Drosophila P transposons were mobile in zebrafish but have
RT been domesticated in a common ancestor of chicken and human.";
RL Mol. Biol. Evol. 22:833-844(2005).
RN [3]
RP FUNCTION, AND DNA-BINDING.
RX PubMed=20010837; DOI=10.1038/nsmb.1742;
RA Sabogal A., Lyubimov A.Y., Corn J.E., Berger J.M., Rio D.C.;
RT "THAP proteins target specific DNA sites through bipartite recognition of
RT adjacent major and minor grooves.";
RL Nat. Struct. Mol. Biol. 17:117-123(2010).
RN [4]
RP FUNCTION.
RX PubMed=23349291; DOI=10.1126/science.1231789;
RA Majumdar S., Singh A., Rio D.C.;
RT "The human THAP9 gene encodes an active P-element DNA transposase.";
RL Science 339:446-448(2013).
CC -!- FUNCTION: Active transposase that specifically recognizes the bipartite
CC 5'-TXXGGGX(A/T)-3' consensus motif and mediates transposition.
CC {ECO:0000269|PubMed:20010837, ECO:0000269|PubMed:23349291}.
CC -!- INTERACTION:
CC Q9H5L6; PRO_0000449621 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-10982953, EBI-25492388;
CC Q9H5L6; PRO_0000449633 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-10982953, EBI-25492395;
CC -!- MISCELLANEOUS: Able to mediate mobilization of P-elements when
CC transfected in Drosophila. {ECO:0000305|PubMed:23349291}.
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DR EMBL; AK026973; BAB15609.1; -; mRNA.
DR EMBL; AK091412; BAG52354.1; -; mRNA.
DR EMBL; AJ717666; CAG30691.1; -; Genomic_DNA.
DR CCDS; CCDS3598.1; -.
DR RefSeq; NP_078948.3; NM_024672.5.
DR AlphaFoldDB; Q9H5L6; -.
DR SMR; Q9H5L6; -.
DR BioGRID; 122840; 10.
DR ELM; Q9H5L6; -.
DR IntAct; Q9H5L6; 5.
DR STRING; 9606.ENSP00000305533; -.
DR iPTMnet; Q9H5L6; -.
DR PhosphoSitePlus; Q9H5L6; -.
DR BioMuta; THAP9; -.
DR DMDM; 166987614; -.
DR EPD; Q9H5L6; -.
DR jPOST; Q9H5L6; -.
DR MassIVE; Q9H5L6; -.
DR MaxQB; Q9H5L6; -.
DR PaxDb; Q9H5L6; -.
DR PeptideAtlas; Q9H5L6; -.
DR PRIDE; Q9H5L6; -.
DR ProteomicsDB; 80918; -.
DR Antibodypedia; 52352; 46 antibodies from 15 providers.
DR DNASU; 79725; -.
DR Ensembl; ENST00000302236.10; ENSP00000305533.5; ENSG00000168152.13.
DR GeneID; 79725; -.
DR KEGG; hsa:79725; -.
DR MANE-Select; ENST00000302236.10; ENSP00000305533.5; NM_024672.6; NP_078948.3.
DR UCSC; uc003hnt.3; human.
DR CTD; 79725; -.
DR DisGeNET; 79725; -.
DR GeneCards; THAP9; -.
DR HGNC; HGNC:23192; THAP9.
DR HPA; ENSG00000168152; Low tissue specificity.
DR MIM; 612537; gene.
DR neXtProt; NX_Q9H5L6; -.
DR OpenTargets; ENSG00000168152; -.
DR PharmGKB; PA134981371; -.
DR VEuPathDB; HostDB:ENSG00000168152; -.
DR eggNOG; ENOG502QQSX; Eukaryota.
DR GeneTree; ENSGT00940000161474; -.
DR HOGENOM; CLU_006886_4_0_1; -.
DR InParanoid; Q9H5L6; -.
DR OMA; KEDICQD; -.
DR OrthoDB; 1000569at2759; -.
DR PhylomeDB; Q9H5L6; -.
DR TreeFam; TF328542; -.
DR PathwayCommons; Q9H5L6; -.
DR SignaLink; Q9H5L6; -.
DR BioGRID-ORCS; 79725; 4 hits in 1095 CRISPR screens.
DR ChiTaRS; THAP9; human.
DR GenomeRNAi; 79725; -.
DR Pharos; Q9H5L6; Tbio.
DR PRO; PR:Q9H5L6; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9H5L6; protein.
DR Bgee; ENSG00000168152; Expressed in sperm and 128 other tissues.
DR ExpressionAtlas; Q9H5L6; baseline and differential.
DR Genevisible; Q9H5L6; HS.
DR GO; GO:0003677; F:DNA binding; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:0016740; F:transferase activity; IEA:UniProtKB-KW.
DR GO; GO:0004803; F:transposase activity; IDA:UniProtKB.
DR GO; GO:0015074; P:DNA integration; IDA:UniProtKB.
DR GO; GO:0006310; P:DNA recombination; IDA:UniProtKB.
DR GO; GO:0006313; P:transposition, DNA-mediated; IDA:UniProtKB.
DR Gene3D; 6.20.210.20; -; 1.
DR InterPro; IPR006612; THAP_Znf.
DR InterPro; IPR038441; THAP_Znf_sf.
DR InterPro; IPR021896; Transposase_37.
DR Pfam; PF05485; THAP; 1.
DR Pfam; PF12017; Tnp_P_element; 1.
DR SMART; SM00692; DM3; 1.
DR SMART; SM00980; THAP; 1.
DR PROSITE; PS50950; ZF_THAP; 1.
PE 1: Evidence at protein level;
KW DNA integration; DNA recombination; DNA-binding; Metal-binding;
KW Reference proteome; Transferase; Zinc; Zinc-finger.
FT CHAIN 1..903
FT /note="DNA transposase THAP9"
FT /id="PRO_0000317246"
FT ZN_FING 1..89
FT /note="THAP-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00309"
FT MOTIF 123..126
FT /note="HCFC1-binding motif (HBM)"
FT /evidence="ECO:0000250"
FT VARIANT 284
FT /note="M -> I (in dbSNP:rs1031639)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038486"
FT VARIANT 299
FT /note="L -> F (in dbSNP:rs897945)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038487"
FT VARIANT 812
FT /note="N -> D (in dbSNP:rs6535411)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038488"
FT VARIANT 833
FT /note="V -> I (in dbSNP:rs35532215)"
FT /id="VAR_061842"
FT CONFLICT 174
FT /note="L -> I (in Ref. 1; BAB15609)"
FT /evidence="ECO:0000305"
FT CONFLICT 491
FT /note="E -> G (in Ref. 1; BAB15609)"
FT /evidence="ECO:0000305"
FT CONFLICT 875
FT /note="S -> P (in Ref. 1; BAG52354)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 903 AA; 103411 MW; 64DA9DADA3D80353 CRC64;
MTRSCSAVGC STRDTVLSRE RGLSFHQFPT DTIQRSKWIR AVNRVDPRSK KIWIPGPGAI
LCSKHFQESD FESYGIRRKL KKGAVPSVSL YKIPQGVHLK GKARQKILKQ PLPDNSQEVA
TEDHNYSLKT PLTIGAEKLA EVQQMLQVSK KRLISVKNYR MIKKRKGLRL IDALVEEKLL
SEETECLLRA QFSDFKWELY NWRETDEYSA EMKQFACTLY LCSSKVYDYV RKILKLPHSS
ILRTWLSKCQ PSPGFNSNIF SFLQRRVENG DQLYQYCSLL IKSMPLKQQL QWDPSSHSLQ
GFMDFGLGKL DADETPLASE TVLLMAVGIF GHWRTPLGYF FVNRASGYLQ AQLLRLTIGK
LSDIGITVLA VTSDATAHSV QMAKALGIHI DGDDMKCTFQ HPSSSSQQIA YFFDSCHLLR
LIRNAFQNFQ SIQFINGIAH WQHLVELVAL EEQELSNMER IPSTLANLKN HVLKVNSATQ
LFSESVASAL EYLLSLDLPP FQNCIGTIHF LRLINNLFDI FNSRNCYGKG LKGPLLPETY
SKINHVLIEA KTIFVTLSDT SNNQIIKGKQ KLGFLGFLLN AESLKWLYQN YVFPKVMPFP
YLLTYKFSHD HLELFLKMLR QVLVTSSSPT CMAFQKAYYN LETRYKFQDE VFLSKVSIFD
ISIARRKDLA LWTVQRQYGV SVTKTVFHEE GICQDWSHCS LSEALLDLSD HRRNLICYAG
YVANKLSALL TCEDCITALY ASDLKASKIG SLLFVKKKNG LHFPSESLCR VINICERVVR
THSRMAIFEL VSKQRELYLQ QKILCELSGH INLFVDVNKH LFDGEVCAIN HFVKLLKDII
ICFLNIRAKN VAQNPLKHHS ERTDMKTLSR KHWSSVQDYK CSSFANTSSK FRHLLSNDGY
PFK
