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 27-MAR-2024, entry version 158. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 22. 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; 9606-ENSP00000362481; -. DR PeptideAtlas; Q96BW1; -. DR ProteomicsDB; 76119; -. [Q96BW1-1] DR ProteomicsDB; 76120; -. [Q96BW1-2] DR ProteomicsDB; 76121; -. [Q96BW1-3] DR Pumba; Q96BW1; -. DR Antibodypedia; 361; 325 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 AGR; HGNC:28334; -. 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; DIANRWV; -. DR OrthoDB; 1202986at2759; -. 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 781 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 176 other cell types or tissues. DR ExpressionAtlas; Q96BW1; baseline and differential. DR GO; GO:0005737; C:cytoplasm; 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 GO; GO:0050262; F:ribosylnicotinamide kinase activity; IBA:GO_Central. DR GO; GO:0007565; P:female pregnancy; IEA:Ensembl. DR GO; GO:0007595; P:lactation; IEA:Ensembl. DR GO; GO:0032868; P:response to insulin; IEA:Ensembl. DR GO; GO:0006222; P:UMP biosynthetic process; IEA:Ensembl. DR CDD; cd06223; PRTases_typeI; 1. DR Gene3D; 3.40.50.2020; -; 1. DR InterPro; IPR000836; PRibTrfase_dom. DR InterPro; IPR029057; PRTase-like. DR PANTHER; PTHR10285:SF171; URACIL PHOSPHORIBOSYLTRANSFERASE HOMOLOG; 1. DR PANTHER; PTHR10285; URIDINE KINASE; 1. DR Pfam; PF14681; UPRTase; 1. DR SUPFAM; SSF53271; PRTase-like; 1. DR Genevisible; Q96BW1; HS. 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 //