ADHDgene Database

Gene Report

Basic Info

Approved Symbol	TPP1
Previous Symbol	CLN2
Approved Name	tripeptidyl peptidase I
Previous Name	ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)
Name Alias	TPP I
Location	11p15.4
Position	chr11:6633997-6640692, -
External Links	HGNC: 2073 Entrez Gene: 1200 Ensembl: ENSG00000166340 UCSC: uc001mel.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_29	chr11:5582423-7488751 (NCBI Build 36.1 (hg18))	1859865	11p15.4	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007399	nervous system development	Biological Process	IMP[9295267]	54
GO:0007040	lysosome organization	Biological Process		7
GO:0008233	peptidase activity	Molecular Function	IMP[9295267]	15
GO:0008219	cell death	Biological Process		33
GO:0006508	proteolysis	Biological Process	IMP[10965052]	102
GO:0005764	lysosome	Cellular Component	IDA[15317752]; IMP[9295267]	31
GO:0006987	activation of signaling protein activity involved in unfolded protein response	Biological Process		13
GO:0006629	lipid metabolic process	Biological Process	TAS[9295267]	51
GO:0042470	melanosome	Cellular Component		22
GO:0042277	peptide binding	Molecular Function		7
GO:0043202	lysosomal lumen	Cellular Component		10
GO:0043171	peptide catabolic process	Biological Process	IMP[15158442]	1
GO:0008240	tripeptidyl-peptidase activity	Molecular Function	IDA[10965052]; IMP[10679303]	1
GO:0008236	serine-type peptidase activity	Molecular Function	IMP[11054422]	11
GO:0030968	endoplasmic reticulum unfolded protein response	Biological Process		16
GO:0030163	protein catabolic process	Biological Process	NAS[10740217]	5
GO:0045453	bone resorption	Biological Process	IMP[8215436]	4
GO:0005739	mitochondrion	Cellular Component		183
GO:0046872	metal ion binding	Molecular Function		170
GO:0005515	protein binding	Molecular Function	IPI[12134079]	910
GO:0050885	neuromuscular process controlling balance	Biological Process		8
GO:0004252	serine-type endopeptidase activity	Molecular Function		29
GO:0004175	endopeptidase activity	Molecular Function	IDA[10965052]; IMP[10679303]	4

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04142	Lysosome	19	Lysosomes are membrane-delimited organelles in animal cells ...... Lysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than 40 hydrolases in an acidic environment (pH of about 5). After synthesis in the ER, lysosomal enzymes are decorated with mannose-6-phosphate residues, which are recognized by mannose-6-phosphate receptors in the trans-Golgi network. They are packaged into clathrin-coated vesicles and are transported to late endosomes. Substances for digestion are acquired by the lysosomes via a series of processes including endocytosis, phagocytosis, and autophagy. More...

Genes shared at least 5 GO terms with TPP1 (count: 3)

Gene Symbol	Pathway Count	Pathway List
SPG7	7	nervous system development; peptidase activity; cell death; proteolysis; protein catabolic process; mitochondrion; protein binding;
FURIN	6	peptidase activity; proteolysis; peptide binding; metal ion binding; serine-type endopeptidase activity; endopeptidase activity;
MBTPS1	5	proteolysis; activation of signaling protein activity involved in unfolded protein response; lipid metabolic process; endoplasmic reticulum unfolded protein response; serine-type endopeptidase activity;

Genes shared at least 2 KEGG pathways with TPP1 (count: 0)

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Region: chr11:6633997..6640692 View in gBrowse