UPP_HUMAN
ID UPP_HUMAN Reviewed; 309 AA.
AC Q96BW1; Q5JRL1; Q5JRL3; Q68DN0; Q96MW2;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Uracil phosphoribosyltransferase homolog;
GN Name=UPRT;
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 [GENOMIC DNA], TISSUE SPECIFICITY, AND SUBCELLULAR
RP LOCATION.
RX PubMed=17384901; DOI=10.1007/s10038-007-0129-2;
RA Li J., Huang S., Chen J., Yang Z., Fei X., Zheng M., Ji C., Xie Y., Mao Y.;
RT "Identification and characterization of human uracil
RT phosphoribosyltransferase (UPRTase).";
RL J. Hum. Genet. 52:415-422(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Hippocampus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND ALTERNATIVE SPLICING.
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 -!- INTERACTION:
CC Q96BW1; Q8N668: COMMD1; NbExp=3; IntAct=EBI-742943, EBI-1550112;
CC Q96BW1; P84090: ERH; NbExp=3; IntAct=EBI-742943, EBI-711389;
CC Q96BW1; Q9NZ52-2: GGA3; NbExp=3; IntAct=EBI-742943, EBI-12075758;
CC Q96BW1; O75031: HSF2BP; NbExp=3; IntAct=EBI-742943, EBI-7116203;
CC Q96BW1; Q92993: KAT5; NbExp=3; IntAct=EBI-742943, EBI-399080;
CC Q96BW1; O75607: NPM3; NbExp=3; IntAct=EBI-742943, EBI-721544;
CC Q96BW1; P62487: POLR2G; NbExp=3; IntAct=EBI-742943, EBI-347928;
CC Q96BW1; O60437: PPL; NbExp=3; IntAct=EBI-742943, EBI-368321;
CC Q96BW1; Q8WU10: PYROXD1; NbExp=10; IntAct=EBI-742943, EBI-742933;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17384901}. Nucleus
CC {ECO:0000269|PubMed:17384901}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96BW1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96BW1-2; Sequence=VSP_021206, VSP_021207;
CC Name=3;
CC IsoId=Q96BW1-3; Sequence=VSP_021205, VSP_021208, VSP_021209;
CC -!- TISSUE SPECIFICITY: Highly expressed in leukocytes, liver, spleen and
CC thymus, with lower expression in brain, lung and skeletal muscle.
CC {ECO:0000269|PubMed:17384901}.
CC -!- SIMILARITY: Belongs to the UPRTase family. {ECO:0000305}.
CC -!- CAUTION: No UPRTase activity has been detected in vitro and the uracil
CC binding region known from UPRTases is missing.
CC {ECO:0000305|PubMed:17384901}.
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DR EMBL; AK056354; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR749336; CAH18190.1; -; mRNA.
DR EMBL; AL137013; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL590234; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC015116; AAH15116.1; -; mRNA.
DR CCDS; CCDS14429.1; -. [Q96BW1-1]
DR RefSeq; NP_659489.1; NM_145052.3. [Q96BW1-1]
DR AlphaFoldDB; Q96BW1; -.
DR SMR; Q96BW1; -.
DR BioGRID; 126576; 21.
DR IntAct; Q96BW1; 16.
DR STRING; 9606.ENSP00000362481; -.
DR GlyGen; Q96BW1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96BW1; -.
DR MetOSite; Q96BW1; -.
DR PhosphoSitePlus; Q96BW1; -.
DR BioMuta; UPRT; -.
DR DMDM; 74751783; -.
DR EPD; Q96BW1; -.
DR jPOST; Q96BW1; -.
DR MassIVE; Q96BW1; -.
DR MaxQB; Q96BW1; -.
DR PaxDb; Q96BW1; -.
DR PeptideAtlas; Q96BW1; -.
DR PRIDE; Q96BW1; -.
DR ProteomicsDB; 76119; -. [Q96BW1-1]
DR ProteomicsDB; 76120; -. [Q96BW1-2]
DR ProteomicsDB; 76121; -. [Q96BW1-3]
DR Antibodypedia; 361; 285 antibodies from 19 providers.
DR DNASU; 139596; -.
DR Ensembl; ENST00000373383.9; ENSP00000362481.4; ENSG00000094841.14. [Q96BW1-1]
DR Ensembl; ENST00000462237.5; ENSP00000433987.1; ENSG00000094841.14. [Q96BW1-2]
DR GeneID; 139596; -.
DR KEGG; hsa:139596; -.
DR MANE-Select; ENST00000373383.9; ENSP00000362481.4; NM_145052.4; NP_659489.1.
DR UCSC; uc004ecb.3; human. [Q96BW1-1]
DR CTD; 139596; -.
DR DisGeNET; 139596; -.
DR GeneCards; UPRT; -.
DR HGNC; HGNC:28334; UPRT.
DR HPA; ENSG00000094841; Low tissue specificity.
DR MIM; 300656; gene.
DR neXtProt; NX_Q96BW1; -.
DR OpenTargets; ENSG00000094841; -.
DR PharmGKB; PA162408652; -.
DR VEuPathDB; HostDB:ENSG00000094841; -.
DR eggNOG; KOG1017; Eukaryota.
DR GeneTree; ENSGT01020000230412; -.
DR HOGENOM; CLU_1606535_0_0_1; -.
DR InParanoid; Q96BW1; -.
DR OMA; NLFCTPM; -.
DR PhylomeDB; Q96BW1; -.
DR TreeFam; TF105900; -.
DR BRENDA; 2.4.2.9; 2681.
DR PathwayCommons; Q96BW1; -.
DR SignaLink; Q96BW1; -.
DR BioGRID-ORCS; 139596; 10 hits in 705 CRISPR screens.
DR ChiTaRS; UPRT; human.
DR GenomeRNAi; 139596; -.
DR Pharos; Q96BW1; Tbio.
DR PRO; PR:Q96BW1; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q96BW1; protein.
DR Bgee; ENSG00000094841; Expressed in cortical plate and 174 other tissues.
DR ExpressionAtlas; Q96BW1; baseline and differential.
DR Genevisible; Q96BW1; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR CDD; cd06223; PRTases_typeI; 1.
DR Gene3D; 3.40.50.2020; -; 1.
DR InterPro; IPR000836; PRibTrfase_dom.
DR InterPro; IPR029057; PRTase-like.
DR SUPFAM; SSF53271; SSF53271; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; GTP-binding; Nucleotide-binding; Nucleus;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..309
FT /note="Uracil phosphoribosyltransferase homolog"
FT /id="PRO_0000254535"
FT REGION 1..38
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 9..27
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 133
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q26998"
FT BINDING 142
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q26998"
FT BINDING 176..179
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q26998"
FT BINDING 186
FT /ligand="5-phospho-alpha-D-ribose 1-diphosphate"
FT /ligand_id="ChEBI:CHEBI:58017"
FT /evidence="ECO:0000250|UniProtKB:Q26998"
FT BINDING 203
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q26998"
FT BINDING 232
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250|UniProtKB:Q26998"
FT BINDING 238..246
FT /ligand="5-phospho-alpha-D-ribose 1-diphosphate"
FT /ligand_id="ChEBI:CHEBI:58017"
FT /evidence="ECO:0000250|UniProtKB:Q26998"
FT BINDING 299..301
FT /ligand="uracil"
FT /ligand_id="ChEBI:CHEBI:17568"
FT /evidence="ECO:0000250|UniProtKB:Q26998"
FT MOD_RES 25
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:B1AVZ0"
FT VAR_SEQ 1..114
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021205"
FT VAR_SEQ 144..176
FT /note="IRLVVEEGLNQLPYKECMVTTPTGYKYEGVKFE -> VLPEDLFQKSIDNSC
FT SAFHHQTCCGRGIESAAI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_021206"
FT VAR_SEQ 177..309
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_021207"
FT VAR_SEQ 276..281
FT /note="AKSIIQ -> EFSMRQ (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021208"
FT VAR_SEQ 282..309
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021209"
FT CONFLICT 130
FT /note="T -> A (in Ref. 3; CAH18190)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 309 AA; 33786 MW; 5B3E77326345767B CRC64;
MATELQCPDS MPCHNQQVNS ASTPSPEQLR PGDLILDHAG GNRASRAKVI LLTGYAHSSL
PAELDSGACG GSSLNSEGNS GSGDSSSYDA PAGNSFLEDC ELSRQIGAQL KLLPMNDQIR
ELQTIIRDKT ASRGDFMFSA DRLIRLVVEE GLNQLPYKEC MVTTPTGYKY EGVKFEKGNC
GVSIMRSGEA MEQGLRDCCR SIRIGKILIQ SDEETQRAKV YYAKFPPDIY RRKVLLMYPI
LSTGNTVIEA VKVLIEHGVQ PSVIILLSLF STPHGAKSII QEFPEITILT TEVHPVAPTH
FGQKYFGTD
