TPP1 (tripeptidyl peptidase 1)

2007-02-01 Affiliation

Identity

HGNC

TPP1

LOCATION

11p15.4

LOCUSID

1200

ALIAS

CLN2,GIG1,LPIC,SCAR7,TPP-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1200
MIM: 607998
HGNC: 2073
Ensembl: ENSG00000166340

Variants:

dbSNP: 1200
ClinVar: 1200
TCGA: ENSG00000166340
COSMIC: TPP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000166340	ENST00000299427	O14773
ENSG00000166340	ENST00000436873	E7EV34
ENSG00000166340	ENST00000528571	E9PPA4
ENSG00000166340	ENST00000528657	E9PME9
ENSG00000166340	ENST00000531754	A0A2R8YCK4
ENSG00000166340	ENST00000533371	O14773
ENSG00000166340	ENST00000642892	O14773
ENSG00000166340	ENST00000643342	A0A2R8YD72
ENSG00000166340	ENST00000643439	E9PPA4
ENSG00000166340	ENST00000643516	A0A2R8Y7U1
ENSG00000166340	ENST00000644218	A0A2R8YD45
ENSG00000166340	ENST00000644683	A0A2R8YE64
ENSG00000166340	ENST00000644810	A0A2R8YGD1
ENSG00000166340	ENST00000644933	A0A2R8Y7I4
ENSG00000166340	ENST00000645285	A0A2R8YDY1
ENSG00000166340	ENST00000645620	O14773
ENSG00000166340	ENST00000647152	O14773
ENSG00000166340	ENST00000647209	A0A2R8Y6T9

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolism of proteins	REACTOME	R-HSA-392499
Unfolded Protein Response (UPR)	REACTOME	R-HSA-381119
IRE1alpha activates chaperones	REACTOME	R-HSA-381070
XBP1(S) activates chaperone genes	REACTOME	R-HSA-381038

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166169879	cerliponase alfa	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
24271013	2014	Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.	40
12134079	2002	Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.	24
19201763	2009	Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.	24
12376936	2002	Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.	23
21784683	2011	Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.	21
14702339	2004	N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.	20
22989886	2012	Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile Batten disease therapy.	19
22016395	2012	New families of carboxyl peptidases: serine-carboxyl peptidases and glutamic peptidases.	18
12488460	2003	Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.	16
19038966	2009	Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.	16

Citation

Dessen P

TPP1 (tripeptidyl peptidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46412/tpp1