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Q96BW1 (UPP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uracil phosphoribosyltransferase homolog
Gene names
Name:UPRT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length309 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Cytoplasm. Nucleus Ref.1.

Tissue specificity

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

Sequence similarities

Belongs to the UPRTase family.

Caution

No UPRTase activity has been detected in vitro (Ref.1) and the uracil binding region known from UPRTases is missing.

Ontologies

Keywords
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processUMP biosynthetic process

Inferred from electronic annotation. Source: Ensembl

female pregnancy

Inferred from electronic annotation. Source: Ensembl

lactation

Inferred from electronic annotation. Source: Ensembl

response to insulin

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96BW1-1)

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.
Isoform 2 (identifier: Q96BW1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     144-176: IRLVVEEGLNQLPYKECMVTTPTGYKYEGVKFE → VLPEDLFQKSIDNSCSAFHHQTCCGRGIESAAI
     177-309: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96BW1-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 309309Uracil phosphoribosyltransferase homolog
PRO_0000254535

Natural variations

Alternative sequence1 – 114114Missing in isoform 3.
VSP_021205
Alternative sequence144 – 17633IRLVV…GVKFE → VLPEDLFQKSIDNSCSAFHH QTCCGRGIESAAI in isoform 2.
VSP_021206
Alternative sequence177 – 309133Missing in isoform 2.
VSP_021207
Alternative sequence276 – 2816AKSIIQ → EFSMRQ in isoform 3.
VSP_021208
Alternative sequence282 – 30928Missing in isoform 3.
VSP_021209

Experimental info

Sequence conflict1301T → A in CAH18190. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 5B3E77326345767B

FASTA30933,786
        10         20         30         40         50         60 
MATELQCPDS MPCHNQQVNS ASTPSPEQLR PGDLILDHAG GNRASRAKVI LLTGYAHSSL 

        70         80         90        100        110        120 
PAELDSGACG GSSLNSEGNS GSGDSSSYDA PAGNSFLEDC ELSRQIGAQL KLLPMNDQIR 

       130        140        150        160        170        180 
ELQTIIRDKT ASRGDFMFSA DRLIRLVVEE GLNQLPYKEC MVTTPTGYKY EGVKFEKGNC 

       190        200        210        220        230        240 
GVSIMRSGEA MEQGLRDCCR SIRIGKILIQ SDEETQRAKV YYAKFPPDIY RRKVLLMYPI 

       250        260        270        280        290        300 
LSTGNTVIEA VKVLIEHGVQ PSVIILLSLF STPHGAKSII QEFPEITILT TEVHPVAPTH 


FGQKYFGTD 

« Hide

Isoform 2 [UniParc].

Checksum: 8C467592DB54C2D2
Show »

FASTA17618,700
Isoform 3 [UniParc].

Checksum: 1CF01617F74AC63A
Show »

FASTA16719,056

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_659489.1. NM_145052.3.
UniGeneHs.91612.

3D structure databases

ProteinModelPortalQ96BW1.
SMRQ96BW1. Positions 112-308.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126576. 2 interactions.
IntActQ96BW1. 1 interaction.
MINTMINT-1476786.
STRING9606.ENSP00000362481.

PTM databases

PhosphoSiteQ96BW1.

Polymorphism databases

DMDM74751783.

Proteomic databases

PaxDbQ96BW1.
PRIDEQ96BW1.

Protocols and materials databases

DNASU139596.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000373383; ENSP00000362481; ENSG00000094841. [Q96BW1-1]
ENST00000462237; ENSP00000433987; ENSG00000094841. [Q96BW1-2]
GeneID139596.
KEGGhsa:139596.
UCSCuc004ecb.2. human. [Q96BW1-1]

Organism-specific databases

CTD139596.
GeneCardsGC0XP074493.
H-InvDBHIX0016881.
HGNCHGNC:28334. UPRT.
HPAHPA000805.
MIM300656. gene.
neXtProtNX_Q96BW1.
PharmGKBPA162408652.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0035.
HOGENOMHOG000262755.
HOVERGENHBG105296.
InParanoidQ96BW1.
KOK00761.
OMADFKFYAD.
OrthoDBEOG7RNK10.
PhylomeDBQ96BW1.
TreeFamTF105900.

Gene expression databases

ArrayExpressQ96BW1.
BgeeQ96BW1.
CleanExHS_UPRT.
GenevestigatorQ96BW1.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi139596.
NextBio83994.
PROQ96BW1.
SOURCESearch...

Entry information

Entry nameUPP_HUMAN
AccessionPrimary (citable) accession number: Q96BW1
Secondary accession number(s): Q5JRL1 expand/collapse secondary AC list , Q5JRL3, Q68DN0, Q96MW2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM