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Q96BW1

- UPP_HUMAN

UniProt

Q96BW1 - UPP_HUMAN

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Protein

Uracil phosphoribosyltransferase homolog

Gene

UPRT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ96BW1.
CleanExiHS_UPRT.
ExpressionAtlasiQ96BW1. baseline and differential.
GenevestigatoriQ96BW1.

Organism-specific databases

HPAiHPA000805.

Interactioni

Protein-protein interaction databases

BioGridi126576. 7 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.
GeneTreeiENSGT00510000047272.
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

        10         20         30         40         50
MATELQCPDS MPCHNQQVNS ASTPSPEQLR PGDLILDHAG GNRASRAKVI
60 70 80 90 100
LLTGYAHSSL PAELDSGACG GSSLNSEGNS GSGDSSSYDA PAGNSFLEDC
110 120 130 140 150
ELSRQIGAQL KLLPMNDQIR ELQTIIRDKT ASRGDFMFSA DRLIRLVVEE
160 170 180 190 200
GLNQLPYKEC MVTTPTGYKY EGVKFEKGNC GVSIMRSGEA MEQGLRDCCR
210 220 230 240 250
SIRIGKILIQ SDEETQRAKV YYAKFPPDIY RRKVLLMYPI LSTGNTVIEA
260 270 280 290 300
VKVLIEHGVQ PSVIILLSLF STPHGAKSII QEFPEITILT TEVHPVAPTH

FGQKYFGTD
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 7 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.
GeneTreei ENSGT00510000047272.
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

Bgeei Q96BW1.
CleanExi HS_UPRT.
ExpressionAtlasi Q96BW1. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 100 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