Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	TPP1
Previous Symbol	CLN2, SCAR7
Approved Name	tripeptidyl peptidase I
Previous Name	ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease), "spinocerebellar ataxia, autosomal recessive 7"
Name Alias	TPP I
Location	11p15.4
Position	chr11:6612763-6619461, -1
External Links	HGNC: 2073 Entrez Gene: 1200 Ensembl: ENSG00000166340 UCSC: uc001mel.1
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
Ament, S. A., 2015		P-value=0.0057. No individual gene had a significant burden of segregating rare variants in BD pedigrees after correcting for multiple tests, although several genes had suggestive trends.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 26)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007399	nervous system development	biological process	IMP[9295267]	40
GO:0007417	central nervous system development	biological process	IBA	21
GO:0005764	lysosome	cellular component	IDA[15317752]; IMP[9295267]	16

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0042277	peptide binding	molecular function	ISS	11
GO:0004252	serine-type endopeptidase activity	molecular function	IEA	9
GO:0043171	peptide catabolic process	biological process	IMP[15158442]	3
GO:0045453	bone resorption	biological process	IMP[8215436]	3
GO:0006987	activation of signaling protein activity involved in unfolded protein response	biological process	TAS	8
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0006629	lipid metabolic process	biological process	TAS[9295267]	10
GO:0006508	proteolysis	biological process	IMP[10965052]	34
GO:0007040	lysosome organization	biological process	ISS	2
GO:0008233	peptidase activity	molecular function	IMP[9295267]	4
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0030855	epithelial cell differentiation	biological process	IEP[21492153]	5
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0030163	protein catabolic process	biological process	NAS[10740217]	5
GO:0008240	tripeptidyl-peptidase activity	molecular function	IDA[10965052]; IMP[10617131]	3
GO:0008236	serine-type peptidase activity	molecular function	IMP[11054422]	9
GO:0042470	melanosome	cellular component	IEA	15
GO:0050885	neuromuscular process controlling balance	biological process	ISS	6
GO:0043202	lysosomal lumen	cellular component	TAS	4
GO:0004175	endopeptidase activity	molecular function	IDA[10965052]; IMP[10679303]	8
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	TAS	10
GO:0005515	protein binding	molecular function	IPI[12134079]	563

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
TPP1	TERT	NO	in vivo	17237767
TPP1	NMB	YES	in vitro	15158442

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)
Chr 11	chr11:0-135086622	2 (0/2/0)
11p15	chr11:0-22000000	5 (0/4/1)
11p15.4	chr11:2800000-11700000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr11:6612763..6619461 View in gBrowse