PGBD3_HUMAN
ID PGBD3_HUMAN Reviewed; 593 AA.
AC Q8N328; B3KQC4; Q5W0M0; Q6PIH0;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=PiggyBac transposable element-derived protein 3;
GN Name=PGBD3;
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 VARIANT LYS-382.
RC TISSUE=Mammary gland;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LYS-382.
RC TISSUE=Liver, and Urinary bladder;
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).
RN [4]
RP ALTERNATIVE SPLICING, AND MISCELLANEOUS.
RX PubMed=18369450; DOI=10.1371/journal.pgen.1000031;
RA Newman J.C., Bailey A.D., Fan H.Y., Pavelitz T., Weiner A.M.;
RT "An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed
RT in Cockayne syndrome.";
RL PLoS Genet. 4:E1000031-E1000031(2008).
RN [5]
RP FUNCTION.
RX PubMed=22483866; DOI=10.1016/j.dnarep.2012.02.004;
RA Bailey A.D., Gray L.T., Pavelitz T., Newman J.C., Horibata K., Tanaka K.,
RA Weiner A.M.;
RT "The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3)
RT affects DNA repair and induces both interferon-like and innate antiviral
RT responses in CSB-null cells.";
RL DNA Repair 11:488-501(2012).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=26218421; DOI=10.1371/journal.pgen.1005419;
RA Qin Y., Guo T., Li G., Tang T.S., Zhao S., Jiao X., Gong J., Gao F.,
RA Guo C., Simpson J.L., Chen Z.J.;
RT "CSB-PGBD3 mutations cause premature ovarian failure.";
RL PLoS Genet. 11:E1005419-E1005419(2015).
RN [8]
RP VARIANT [LARGE SCALE ANALYSIS] GLY-415.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Binds in vitro to PGBD3-related transposable elements, called
CC MER85s; these non-autonomous 140 bp elements are characterized by the
CC presence of PGBD3 terminal inverted repeats and the absence of internal
CC transposase ORF. {ECO:0000269|PubMed:22483866}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26218421}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=PGBD3;
CC IsoId=Q8N328-1; Sequence=Displayed;
CC Name=CSB-PGBD3 {ECO:0000303|PubMed:18369450};
CC IsoId=P0DP91-1, Q03468-2;
CC Sequence=External;
CC -!- TISSUE SPECIFICITY: Expressed in heart and oocytes, but not in
CC granulosa cells (at protein level). {ECO:0000269|PubMed:26218421}.
CC -!- MISCELLANEOUS: PGBD3 gene is located within ERCC6 intron 5.
CC {ECO:0000269|PubMed:18369450}.
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DR EMBL; AK074682; BAG51986.1; -; mRNA.
DR EMBL; AL138760; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028954; AAH28954.2; -; mRNA.
DR EMBL; BC063690; AAH63690.1; -; mRNA.
DR CCDS; CCDS7230.1; -. [Q8N328-1]
DR RefSeq; NP_736609.2; NM_170753.3. [Q8N328-1]
DR AlphaFoldDB; Q8N328; -.
DR SMR; Q8N328; -.
DR BioGRID; 129356; 6.
DR IntAct; Q8N328; 1.
DR iPTMnet; Q8N328; -.
DR PhosphoSitePlus; Q8N328; -.
DR BioMuta; HGNC:19400; -.
DR DMDM; 296439278; -.
DR EPD; Q8N328; -.
DR jPOST; Q8N328; -.
DR MassIVE; Q8N328; -.
DR MaxQB; Q8N328; -.
DR PaxDb; Q8N328; -.
DR PeptideAtlas; Q8N328; -.
DR PRIDE; Q8N328; -.
DR ProteomicsDB; 71758; -.
DR DNASU; 267004; -.
DR GeneID; 267004; -.
DR KEGG; hsa:267004; -.
DR UCSC; uc057tet.1; human. [Q8N328-1]
DR CTD; 267004; -.
DR DisGeNET; 267004; -.
DR GeneCards; PGBD3; -.
DR HGNC; HGNC:19400; PGBD3.
DR MalaCards; PGBD3; -.
DR MIM; 609413; gene.
DR neXtProt; NX_Q8N328; -.
DR PharmGKB; PA134927747; -.
DR HOGENOM; CLU_013052_2_2_1; -.
DR InParanoid; Q8N328; -.
DR TreeFam; TF328011; -.
DR PathwayCommons; Q8N328; -.
DR SignaLink; Q8N328; -.
DR BioGRID-ORCS; 2074; 26 hits in 1068 CRISPR screens.
DR BioGRID-ORCS; 267004; 30 hits in 1062 CRISPR screens.
DR Pharos; Q8N328; Tbio.
DR PRO; PR:Q8N328; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q8N328; protein.
DR Genevisible; Q8N328; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
DR InterPro; IPR029526; PGBD.
DR Pfam; PF13843; DDE_Tnp_1_7; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..593
FT /note="PiggyBac transposable element-derived protein 3"
FT /id="PRO_0000288054"
FT REGION 27..53
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 69..105
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 86
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 382
FT /note="R -> K (in dbSNP:rs4253072)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_032391"
FT VARIANT 415
FT /note="D -> G (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035621"
FT VARIANT 446
FT /note="Q -> E (in dbSNP:rs11101143)"
FT /id="VAR_051274"
SQ SEQUENCE 593 AA; 67595 MW; B2387127F9A9A369 CRC64;
MPRTLSLHEI TDLLETDDSI EASAIVIQPP ENATAPVSDE ESGDEEGGTI NNLPGSLLHT
AAYLIQDGSD AESDSDDPSY APKDDSPDEV PSTFTVQQPP PSRRRKMTKI LCKWKKADLT
VQPVAGRVTA PPNDFFTVMR TPTEILELFL DDEVIELIVK YSNLYACSKG VHLGLTSSEF
KCFLGIIFLS GYVSVPRRRM FWEQRTDVHN VLVSAAMRRD RFETIFSNLH VADNANLDPV
DKFSKLRPLI SKLNERCMKF VPNETYFSFD EFMVPYFGRH GCKQFIRGKP IRFGYKFWCG
ATCLGYICWF QPYQGKNPNT KHEEYGVGAS LVLQFSEALT EAHPGQYHFV FNNFFTSIAL
LDKLSSMGHQ ATGTVRKDHI DRVPLESDVA LKKKERGTFD YRIDGKGNIV CRWNDNSVVT
VASSGAGIHP LCLVSRYSQK LKKKIQVQQP NMIKVYNQFM GGVDRADENI DKYRASIRGK
KWYSSPLLFC FELVLQNAWQ LHKTYDEKPV DFLEFRRRVV CHYLETHGHP PEPGQKGRPQ
KRNIDSRYDG INHVIVKQGK QTRCAECHKN TTFRCEKCDV ALHVKCSVEY HTE
