Q96BW1 (UPP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uracil phosphoribosyltransferase homolog

Gene names

Name:

UPRT

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	309 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	UMP biosynthetic process Inferred from electronic annotation. Source: Compara female pregnancy Inferred from electronic annotation. Source: Compara lactation Inferred from electronic annotation. Source: Compara response to insulin stimulus Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 309	309	Uracil phosphoribosyltransferase homolog		PRO_0000254535
Natural variations
	Alternative sequence	1 – 114	114	Missing in isoform 3.		VSP_021205
	Alternative sequence	144 – 176	33	IRLVV…GVKFE → VLPEDLFQKSIDNSCSAFHH QTCCGRGIESAAI in isoform 2.		VSP_021206
	Alternative sequence	177 – 309	133	Missing in isoform 2.		VSP_021207
	Alternative sequence	276 – 281	6	AKSIIQ → EFSMRQ in isoform 3.		VSP_021208
	Alternative sequence	282 – 309	28	Missing in isoform 3.		VSP_021209
Experimental info
	Sequence conflict	130	1	T → A in CAH18190. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 5B3E77326345767B	FASTA	309	33,786
	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
	Isoform 2 [UniParc]. Checksum: 8C467592DB54C2D2	FASTA	176	18,700
	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 ELQTIIRDKT ASRGDFMFSA DRLVLPEDLF QKSIDNSCSA FHHQTCCGRG IESAAI
	Isoform 3 [UniParc]. Checksum: 1CF01617F74AC63A	FASTA	167	19,056
	10 20 30 40 50 60 MNDQIRELQT IIRDKTASRG DFMFSADRLI RLVVEEGLNQ LPYKECMVTT PTGYKYEGVK 70 80 90 100 110 120 FEKGNCGVSI MRSGEAMEQG LRDCCRSIRI GKILIQSDEE TQRAKVYYAK FPPDIYRRKV 130 140 150 160 LLMYPILSTG NTVIEAVKVL IEHGVQPSVI ILLSLFSTPH GEFSMRQ

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00642494. IPI00643178. IPI00797517.
RefSeq	NP_659489.1. NM_145052.3.
UniGene	Hs.91612.
3D structure databases
HSSP	HSSP built from PDB template 1JLS based on UniProtKB Q26998.
ProteinModelPortal	Q96BW1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96BW1. 1 interaction.
MINT	MINT-1476786.
STRING	9606.ENSP00000362481.
PTM databases
PhosphoSite	Q96BW1.
Polymorphism databases
DMDM	74751783.
Proteomic databases
PaxDb	Q96BW1.
PRIDE	Q96BW1.
Protocols and materials databases
DNASU	139596.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373379; ENSP00000362477; ENSG00000094841. ENST00000373383; ENSP00000362481; ENSG00000094841. ENST00000462237; ENSP00000433987; ENSG00000094841.
GeneID	139596.
KEGG	hsa:139596.
UCSC	uc004ecb.2. human.
Organism-specific databases
CTD	139596.
GeneCards	GC0XP074493.
H-InvDB	HIX0016881.
HGNC	HGNC:28334. UPRT.
HPA	HPA000805.
MIM	300656. gene.
neXtProt	NX_Q96BW1.
PharmGKB	PA162408652.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0035.
HOGENOM	HOG000262755.
HOVERGEN	HBG105296.
InParanoid	Q96BW1.
KO	K00761.
OMA	DFKFYAD.
OrthoDB	EOG44TP8D.
Gene expression databases
ArrayExpress	Q96BW1.
Bgee	Q96BW1.
CleanEx	HS_UPRT.
Genevestigator	Q96BW1.
GermOnline	ENSG00000094841. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	139596.
NextBio	83994.
SOURCE	Search...

Entry information

Entry name

UPP_HUMAN

Accession

Primary (citable) accession number: Q96BW1
Secondary accession number(s): Q5JRL1 , Q5JRL3, Q68DN0, Q96MW2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.