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Q96BW1

- UPP_HUMAN

UniProt

Q96BW1 - UPP_HUMAN

Protein

Uracil phosphoribosyltransferase homolog

Gene

UPRT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. female pregnancy Source: Ensembl
    2. lactation Source: Ensembl
    3. response to insulin Source: Ensembl
    4. UMP biosynthetic process Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Uracil phosphoribosyltransferase homolog
    Gene namesi
    Name:UPRT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:28334. UPRT.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162408652.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 309309Uracil phosphoribosyltransferase homologPRO_0000254535Add
    BLAST

    Proteomic databases

    MaxQBiQ96BW1.
    PaxDbiQ96BW1.
    PRIDEiQ96BW1.

    PTM databases

    PhosphoSiteiQ96BW1.

    Expressioni

    Tissue specificityi

    Highly expressed in leukocytes, liver, spleen and thymus, with lower expression in brain, lung and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ96BW1.
    BgeeiQ96BW1.
    CleanExiHS_UPRT.
    GenevestigatoriQ96BW1.

    Organism-specific databases

    HPAiHPA000805.

    Interactioni

    Protein-protein interaction databases

    BioGridi126576. 2 interactions.
    IntActiQ96BW1. 1 interaction.
    MINTiMINT-1476786.
    STRINGi9606.ENSP00000362481.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96BW1.
    SMRiQ96BW1. Positions 112-308.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UPRTase family.Curated

    Phylogenomic databases

    eggNOGiCOG0035.
    HOGENOMiHOG000262755.
    HOVERGENiHBG105296.
    InParanoidiQ96BW1.
    KOiK00761.
    OMAiNCGVSII.
    OrthoDBiEOG7RNK10.
    PhylomeDBiQ96BW1.
    TreeFamiTF105900.

    Family and domain databases

    Gene3Di3.40.50.2020. 1 hit.
    InterProiIPR029057. PRTase-like.
    [Graphical view]
    SUPFAMiSSF53271. SSF53271. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96BW1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MATELQCPDS MPCHNQQVNS ASTPSPEQLR PGDLILDHAG GNRASRAKVI    50
    LLTGYAHSSL PAELDSGACG GSSLNSEGNS GSGDSSSYDA PAGNSFLEDC 100
    ELSRQIGAQL KLLPMNDQIR ELQTIIRDKT ASRGDFMFSA DRLIRLVVEE 150
    GLNQLPYKEC MVTTPTGYKY EGVKFEKGNC GVSIMRSGEA MEQGLRDCCR 200
    SIRIGKILIQ SDEETQRAKV YYAKFPPDIY RRKVLLMYPI LSTGNTVIEA 250
    VKVLIEHGVQ PSVIILLSLF STPHGAKSII QEFPEITILT TEVHPVAPTH 300
    FGQKYFGTD 309
    Length:309
    Mass (Da):33,786
    Last modified:December 1, 2001 - v1
    Checksum:i5B3E77326345767B
    GO
    Isoform 2 (identifier: Q96BW1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         144-176: IRLVVEEGLNQLPYKECMVTTPTGYKYEGVKFE → VLPEDLFQKSIDNSCSAFHHQTCCGRGIESAAI
         177-309: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:176
    Mass (Da):18,700
    Checksum:i8C467592DB54C2D2
    GO
    Isoform 3 (identifier: Q96BW1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-114: Missing.
         276-281: AKSIIQ → EFSMRQ
         282-309: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:167
    Mass (Da):19,056
    Checksum:i1CF01617F74AC63A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti130 – 1301T → A in CAH18190. (PubMed:17974005)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 114114Missing in isoform 3. 1 PublicationVSP_021205Add
    BLAST
    Alternative sequencei144 – 17633IRLVV…GVKFE → VLPEDLFQKSIDNSCSAFHH QTCCGRGIESAAI in isoform 2. 1 PublicationVSP_021206Add
    BLAST
    Alternative sequencei177 – 309133Missing in isoform 2. 1 PublicationVSP_021207Add
    BLAST
    Alternative sequencei276 – 2816AKSIIQ → EFSMRQ in isoform 3. 1 PublicationVSP_021208
    Alternative sequencei282 – 30928Missing in isoform 3. 1 PublicationVSP_021209Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056354 mRNA. No translation available.
    CR749336 mRNA. Translation: CAH18190.1.
    AL590234, AL137013 Genomic DNA. Translation: CAI39681.1.
    AL590234, AL137013 Genomic DNA. Translation: CAI39682.1.
    AL137013, AL590234 Genomic DNA. Translation: CAI40088.1.
    AL137013, AL590234 Genomic DNA. Translation: CAI40089.1.
    BC015116 mRNA. Translation: AAH15116.1.
    CCDSiCCDS14429.1. [Q96BW1-1]
    RefSeqiNP_659489.1. NM_145052.3. [Q96BW1-1]
    UniGeneiHs.91612.

    Genome annotation databases

    EnsembliENST00000373383; ENSP00000362481; ENSG00000094841. [Q96BW1-1]
    ENST00000462237; ENSP00000433987; ENSG00000094841. [Q96BW1-2]
    GeneIDi139596.
    KEGGihsa:139596.
    UCSCiuc004ecb.2. human. [Q96BW1-1]

    Polymorphism databases

    DMDMi74751783.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056354 mRNA. No translation available.
    CR749336 mRNA. Translation: CAH18190.1 .
    AL590234 , AL137013 Genomic DNA. Translation: CAI39681.1 .
    AL590234 , AL137013 Genomic DNA. Translation: CAI39682.1 .
    AL137013 , AL590234 Genomic DNA. Translation: CAI40088.1 .
    AL137013 , AL590234 Genomic DNA. Translation: CAI40089.1 .
    BC015116 mRNA. Translation: AAH15116.1 .
    CCDSi CCDS14429.1. [Q96BW1-1 ]
    RefSeqi NP_659489.1. NM_145052.3. [Q96BW1-1 ]
    UniGenei Hs.91612.

    3D structure databases

    ProteinModelPortali Q96BW1.
    SMRi Q96BW1. Positions 112-308.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126576. 2 interactions.
    IntActi Q96BW1. 1 interaction.
    MINTi MINT-1476786.
    STRINGi 9606.ENSP00000362481.

    PTM databases

    PhosphoSitei Q96BW1.

    Polymorphism databases

    DMDMi 74751783.

    Proteomic databases

    MaxQBi Q96BW1.
    PaxDbi Q96BW1.
    PRIDEi Q96BW1.

    Protocols and materials databases

    DNASUi 139596.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373383 ; ENSP00000362481 ; ENSG00000094841 . [Q96BW1-1 ]
    ENST00000462237 ; ENSP00000433987 ; ENSG00000094841 . [Q96BW1-2 ]
    GeneIDi 139596.
    KEGGi hsa:139596.
    UCSCi uc004ecb.2. human. [Q96BW1-1 ]

    Organism-specific databases

    CTDi 139596.
    GeneCardsi GC0XP074493.
    H-InvDB HIX0016881.
    HGNCi HGNC:28334. UPRT.
    HPAi HPA000805.
    MIMi 300656. gene.
    neXtProti NX_Q96BW1.
    PharmGKBi PA162408652.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0035.
    HOGENOMi HOG000262755.
    HOVERGENi HBG105296.
    InParanoidi Q96BW1.
    KOi K00761.
    OMAi NCGVSII.
    OrthoDBi EOG7RNK10.
    PhylomeDBi Q96BW1.
    TreeFami TF105900.

    Miscellaneous databases

    GenomeRNAii 139596.
    NextBioi 83994.
    PROi Q96BW1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96BW1.
    Bgeei Q96BW1.
    CleanExi HS_UPRT.
    Genevestigatori Q96BW1.

    Family and domain databases

    Gene3Di 3.40.50.2020. 1 hit.
    InterProi IPR029057. PRTase-like.
    [Graphical view ]
    SUPFAMi SSF53271. SSF53271. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of human uracil phosphoribosyltransferase (UPRTase)."
      Li J., Huang S., Chen J., Yang Z., Fei X., Zheng M., Ji C., Xie Y., Mao Y.
      J. Hum. Genet. 52:415-422(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Hippocampus.
    4. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], ALTERNATIVE SPLICING.
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.

    Entry informationi

    Entry nameiUPP_HUMAN
    AccessioniPrimary (citable) accession number: Q96BW1
    Secondary accession number(s): Q5JRL1
    , Q5JRL3, Q68DN0, Q96MW2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 99 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3