TPP1 - tripeptidyl peptidase 1 Gene

Also Known as CLN2; GIG1; LPIC; SCAR7; TPP-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1200

About TPP1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:6,612,768-6,619,422 (from NCBI)

This gene has 37 transcripts (splice variants), 195 orthologues and is associated with 6 phenotypes. Ubiquitous expression in spleen (RPKM 90.7), appendix (RPKM 64.1) and 25 other tissues.

Summary

This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP Synthase in the lysosome. [provided by RefSeq, Jul 2008]

TPP1 Products (1)

mRNA	Protein	Name
NM_000391.4	NP_000382.3	tripeptidyl-peptidase 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables endopeptidase activity	IDA IDA: Inferred from direct assay	10965052	GOA
enables endopeptidase activity	IMP IMP: Inferred from mutant phenotype	10679303	GOA
enables lysophosphatidic acid binding	IDA IDA: Inferred from direct assay	18317235	GOA
enables peptidase activity	IMP IMP: Inferred from mutant phenotype	9295267	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12134079	GOA
enables serine-type peptidase activity	IMP IMP: Inferred from mutant phenotype	11054422	GOA
enables sulfatide binding	IDA IDA: Inferred from direct assay	18317235	GOA
enables tripeptidyl-peptidase activity	IDA IDA: Inferred from direct assay	10965052	GOA
enables tripeptidyl-peptidase activity	IMP IMP: Inferred from mutant phenotype	10617131	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bone resorption	IMP IMP: Inferred from mutant phenotype	8215436	GOA
involved in epithelial cell differentiation	IEP IEP: Inferred from expression pattern	21492153	GOA
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	9295267	GOA
involved in peptide catabolic process	IMP IMP: Inferred from mutant phenotype	9989590	GOA
involved in protein localization to chromosome, telomeric region	IMP IMP: Inferred from mutant phenotype	20404094	GOA
involved in proteolysis	IMP IMP: Inferred from mutant phenotype	9295267	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	17237713	GOA
located in lysosome	IDA IDA: Inferred from direct assay	15317752	GOA
located in lysosome	IMP IMP: Inferred from mutant phenotype	9295267	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	17237713	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	17237713	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TPP1 Protein Structure

Pro-kuma_activ

Peptidase_S8

0
100
200
300
400
500
563 a.a.

Protein Preferred Names	Protein Names
tripeptidyl-peptidase 1	cell growth-inhibiting gene 1 protein

TPP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TPP1	O14773	USP5	Homo sapiens	P45974-2	Y2H Pooling	32814053
Intra	TPP1	O14773	USP5	Homo sapiens	P45974-2	Validated Y2H	32814053
Intra	TPP1	O14773	USP5	Homo sapiens	P45974-2	Y2H Array	32814053
Intra	TPP1	O14773	FBXL4	Homo sapiens	Q9UKA2	Y2H Array	32814053
Intra	TPP1	O14773	FBXL4	Homo sapiens	Q9UKA2	Y2H Pooling	32814053
Intra	TPP1	O14773	FBXL4	Homo sapiens	Q9UKA2	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TPP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70980	TPP1 Protein, Human (HEK293, His)	AAH14863.1 (S20-P563)	≥ 95%, as determined by reducing SDS-PAGE.

TPP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82499	TPP1 Antibody (YA2244)	WB, IHC-P	Human
HY-P82499A	TPP1 Antibody (YA2244)(PBS only)	WB, IHC-P	Human

Related Diseases

Diseases	Alias
Ceroid Lipofuscinosis, Neuronal, 2	Jansky-Bielschowsky Disease Neuronal Ceroid Lipofuscinosis 2 CLN2 Lincl Cln2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset Cln2 Disease, Juvenile Cln2 Disease, Late Infantile Late-Infantile Batten Disease Neuronal Ceroid Lipofuscinosis, Late-Infantile Classic Late Infantile Ncl Classic Late Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset Lipofuscinosis, Ceroid, Neuronal, Type 2 Late-Infantile Neuronal Ceroid Lipfuscinosis
Spinocerebellar Ataxia, Autosomal Recessive 7	SCAR7 Autosomal Recessive Spinocerebellar Ataxia 7 Spinocerebellar Ataxia Autosomal Recessive 7 Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Autosomal Recessive Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia, Autosomal Recessive, 7 Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Ceroid Lipofuscinosis, Neuronal, 3	Batten Disease Juvenile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 3 CLN3 Jncl Spielmeyer-Vogt Disease Vogt-Spielmeyer Disease Spielmeyer-Sjogren Disease Cln3 Disease Neuronal Ceroid Lipofuscinosis, Juvenile Cln3 Disease, Juvenile Spielmeyer Sjogren Disease Vogt Spielmeyer Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Cln3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Disease Juvenile Cerebroretinal Degeneration Classic Juvenile Ncl Classic Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 3
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Ceroid Lipofuscinosis, Neuronal, 13	Neuronal Ceroid Lipofuscinosis 13 CLN13 Neuronal Ceroid Lipofuscinosis 13 Kufs Type Cln13 Disease Lipofuscinosis, Ceroid, Neuronal, Type 13
Ceroid Lipofuscinosis, Neuronal, 10	Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Neuronal Ceroid Lipofuscinosis 10 CLN10 Cathepsin D Deficiency Congenital Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient Cln10 Disease Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient Cln10 Disease, Adult Cln10 Disease, Congenital Cln10 Disease, Juvenile Cln10 Disease, Late Infantile Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis Congenital Ncl Lipofuscinosis, Ceroid, Neuronal, Type 10 Neuronal Ceroid Lipofuscinosis, Congenital
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Ceroid Lipofuscinosis, Neuronal, 9	Neuronal Ceroid Lipofuscinosis 9 CLN9 Cln 9 Cln9 Disease
Partial Optic Atrophy
Retinal Degeneration	Degeneration Of Retina
Spinocerebellar Ataxia, Autosomal Recessive 6	SCAR6 Norwegian Infantile Onset Ataxia Autosomal Recessive Spinocerebellar Ataxia 6 Autosomal Recessive Spinocerebellar Ataxia Type 6 Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive Spinocerebellar Ataxia Autosomal Recessive 6 Cerebellar Ataxia Infantile Nonprogressive Autosomal Recessive
Ceroid Lipofuscinosis, Neuronal, 11	Neuronal Ceroid Lipofuscinosis 11 CLN11 Cln11 Disease Grn-Related Neuronal Ceroid-Lipofuscinosis Lipofuscinosis, Ceroid, Neuronal, Type 11
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Northern Epilepsy Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant Epmr Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type Northern Epilepsy Syndrome Epilepsy, Progressive, With Mental Retardation Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant Progressive Epilepsy With Mental Retardation, Northern Epilepsy Cln8 Disease, Northern Epilepsy Variant Ncl, Northern Epilepsy Variant Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant CLN8NE Ceroid Lipofuscinosis, Neuronal, 8
Progressive Myoclonus Epilepsy 3	Cln14 Disease Epm3 Neuronal Ceroid Lipofuscinosis 14 Pme Type 3 Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency Progressive Myoclonus Epilepsy Type 3 Epilepsy, Progressive Myoclonic 3
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Mucopolysaccharidosis, Type Vii	Sly Syndrome Beta-Glucuronidase Deficiency Mucopolysaccharidosis Vii Mucopolysaccharidosis Type Vii MPS7 Mps Vii Gusb Deficiency Mucopolysaccharidosis Type 7 Mucopolysaccharidosis 7 Deficiency Of Beta-Glucuronidase Mps Vii - Sly Syndrome Mps 7 Mpsvii Sly Disease Sl
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Mucopolysaccharidosis, Type Iiib	Mucopolysaccharidosis Type Iiib MPS3B Naglu Deficiency Mps Iiib Sanfilippo Syndrome B N-Acetyl-Alpha-D-Glucosaminidase Deficiency Mpsiiib Mucopoly-Saccharidosis Type 3b Mucopolysaccharidosis Type 3b N-Acetyl-Alpha-Glucosaminidase Deficiency Sanfilippo Syndrome Type B Mps Iii B Mps 3b Mps Iii-B Mucopolysaccharidosis 3b
Spinocerebellar Ataxia, X-Linked 1	X-Linked Progressive Cerebellar Ataxia SCAX1 Opcax X-Linked Spinocerebellar Ataxia 1 Olivopontocerebellar Atrophy, X-Linked Opca, X-Linked Olivopontocerebellar Atrophy X-Linked Opca X-Linked Ataxia, Spinocerebellar, X-Linked Type 1
Mucopolysaccharidosis, Type Ii	Hunter Syndrome Iduronate 2-Sulfatase Deficiency Mucopolysaccharidosis Ii Mps Ii Mucopolysaccharidosis Type Ii MPS2 Sulfoiduronate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Ii Ids Deficiency Sids Deficiency I2s Deficiency Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 2, Severe Form Deficiency Of Iduronate-2-Sulphatase Hunter'S Syndrome Mps Ii - Hunter Syndrome Iduronate-2-Sulfatase Deficiency Attenuated Mps Mps 2 Severe Mps Ii Mpsii Mucopolysaccharidosis Type 2, Attenuated Form Hunter Syndrome Type B Iduronate 2-Sulfatase Deficiency Type B Mps2b Mpsiib Mucopolysaccharidosis Type 2b Mucopolysaccharidosis Type Ii, Attenuated Form Mucopolysaccharidosis Type Iib Hunter Syndrome Type A Iduronate 2-Sulfatase Deficiency Type A Mps2a Mpsiia Mucopolysaccharidosis Type 2a Mucopolysaccharidosis Type Ii, Severe Form Mucopolysaccharidosis Type Iia Mucopolysaccharidosis 2 Hunters Syndrome Iduronate 2-Sulphatase Deficiency Iduronate Sulfatase Deficiency Iduronate Sulphatase Deficiency Sulfo-Iduronate Sulfatase Deficiency Sulfoiduronidate Sulfatase Deficiency Sulpho-Iduronate Sulphatase Deficiency Sulphoiduronidate Sulphatase Deficiency Mps2 - [Mucopolysaccharidosis 2]
Canavan Disease	Aspartoacylase Deficiency Aminoacylase 2 Deficiency Spongy Degeneration Of Central Nervous System Aspa Deficiency Acy2 Deficiency Canavan-Van Bogaert-Bertrand Disease Mild Canavan Disease Asp Deficiency Spongy Degeneration Of The Central Nervous System Severe Canavan Disease Von Bogaert-Bertrand Disease Canavan'S Disease Spongy Degeneration Of The Brain Juvenile Canavan Disease Infantile Canavan Disease Neonatal Canavan Disease CAND Disease, Canavan Canavan Disease, Juvenile Canavan Disease, Infantile Canavan Disease, Neonatal
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W111141	BCN-OH		99.15%	Unkown
HY-P3139	TPP-1	Inhibitor	99.13%	Unkown
HY-151404	Antitumor agent-76	Inducer	/	Unkown
HY-P3139A	TPP-1 TFA	Inhibitor	/	Unkown
HY-RS00148	ACD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14942	TPP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17753	Tpp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24220	Tpp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TPP1	VGNC	VGNC:81102
Canis familiaris	TPP1	VGNC	VGNC:47747
Macaca mulatta	TPP1	VGNC	VGNC:79276
Bos taurus	TPP1	VGNC	VGNC:36256
Rattus norvegicus	TPP1	RGD	RGD:621296
Mus musculus	TPP1	MGD	MGI:1336194
Others	TPP1	NCBI