Gene Report

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Basic Info

Approved Symbol	UPP1
Previous Symbol	UP
Symbol Alias	UPASE, UPP, UDRPASE
Approved Name	uridine phosphorylase 1
Previous Name	uridine phosphorylase
Location	7p12.3
Position	chr7:48088628-48108733, 1
External Links	HGNC: 12576 Entrez Gene: 7378 Ensembl: ENSG00000183696 UCSC: uc003tok.4
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Chen, X., 2015		UPP1 has been implicated in autism spectrum disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0006206	pyrimidine nucleobase metabolic process	biological process	TAS	1
GO:0046108	uridine metabolic process	biological process	IEA	1
GO:0046135	pyrimidine nucleoside catabolic process	biological process	TAS	1
GO:0042149	cellular response to glucose starvation	biological process	IEA	7
GO:0055086	nucleobase-containing small molecule metabolic process	biological process	TAS	4
GO:0009166	nucleotide catabolic process	biological process	IEA	1
GO:0006139	nucleobase-containing compound metabolic process	biological process	TAS[7488099]	2
GO:0005829	cytosol	cellular component	TAS	223
GO:0044206	UMP salvage	biological process	IEA	1
GO:0004850	uridine phosphorylase activity	molecular function	IEA	1
GO:0043097	pyrimidine nucleoside salvage	biological process	TAS	1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00983	Drug metabolism - other enzymes	2

ID	Name	No. of Genes in BDgene	Brief Description
hsa00240	Pyrimidine metabolism	5

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
UPP1	VIM	NO	in vitro;in vivo	11278417

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7p11-p13	chr7:43300000-59900000	1 (0/1/0)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p15-q21	chr7:20900000-98400000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr7:48088628..48108733 View in gBrowse