Aliases for TPP1 Gene
Aliases for TPP1 Gene
- Tripeptidyl Peptidase 1 2 3 5
- Cell Growth-Inhibiting Gene 1 Protein 3 4
- Tripeptidyl Aminopeptidase 3 4
- Tripeptidyl Peptidase I 2 3
- EC 3.4.14.9 4 61
- TPP-1 3 4
- CLN2 3 4
- LPIC 3 4
- Ceroid-Lipofuscinosis, Neuronal 2, Late Infantile (Jansky-Bielschowsky Disease) 2
- Spinocerebellar Ataxia, Autosomal Recessive 7 2
External Ids for TPP1 Gene
- HGNC: 2073
- Entrez Gene: 1200
- Ensembl: ENSG00000166340
- OMIM: 607998
- UniProtKB: O14773
Previous HGNC Symbols for TPP1 Gene
- CLN2
- SCAR7
Previous GeneCards Identifiers for TPP1 Gene
- GC11M006591
- GC11M006292
Summaries for TPP1 Gene
-
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]
GeneCards Summary for TPP1 Gene
TPP1 (Tripeptidyl Peptidase 1) is a Protein Coding gene. Diseases associated with TPP1 include Ceroid Lipofuscinosis, Neuronal, 2 and Spinocerebellar Ataxia, Autosomal Recessive 7. Among its related pathways are Metabolism of proteins and Unfolded Protein Response (UPR). GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity.
UniProtKB/Swiss-Prot for TPP1 Gene
-
Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPP1 Gene
Genomics for TPP1 Gene
Regulatory Elements for TPP1 Gene
Enhancers for TPP1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH11G006719 | 0.7 | ENCODE dbSUPER | 10.7 | -100.3 | -100287 | 0.6 | CTCF MNT | RPL21P94 MRPL17 DCHS1 ENSG00000255390 TPP1 OR2AG2 OR2AG1 PIR51504 GC11P006733 |
| GH11G006523 | 0.6 | ENCODE | 11.1 | +96.0 | 95996 | 0.2 | FOSL1 JUND GATA2 JUN CUX1 FOS | TIMM10B ENSG00000255390 TPP1 ARFIP2 APBB1 SMPD1 ILK ENSG00000254641 TAF10 DNHD1 |
| GH11G006720 | 0.6 | dbSUPER | 10.7 | -101.8 | -101790 | 2.0 | MTA2 JUNB DPF2 ZNF766 IKZF1 EED RELB IKZF2 | DCHS1 ENSG00000255390 TPP1 OR2AG2 GVINP1 PIR51504 GC11P006733 |
| GH11G006218 | 1.1 | FANTOM5 Ensembl ENCODE | 5.6 | +400.1 | 400116 | 1.5 | GATA2 NFYB FOS | FAM160A2 OR52B2 CAVIN3 TPP1 C11orf42 |
| GH11G006202 | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 3.4 | +416.1 | 416094 | 1.5 | HDGF TAL1 BMI1 TCF12 GATA2 NCOR1 TRIM24 RELB IKZF2 MTA2 | FAM160A2 TPP1 ENSG00000267940 C11orf42 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around TPP1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the TPP1 gene promoter:
Regulatory Element Products
Genomic Location for TPP1 Gene
- Chromosome:
- 11
- Start:
- 6,612,763 bp from pter
- End:
- 6,619,461 bp from pter
- Size:
- 6,699 bases
- Orientation:
- Minus strand
Genomic View for TPP1 Gene
Genes around TPP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p15.4 by Ensembl
- 11p15.4 by Entrez Gene
- 11p15.4 by HGNC
TPP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TPP1 Gene
Proteins for TPP1 Gene
-
Protein details for TPP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14773-TPP1_HUMAN
- Recommended name:
- Tripeptidyl-peptidase 1
- Protein Accession:
- O14773
- Q53HT1
- Q5JAK6
- Q6UX56
- Q71JP6
- Q96C37
Protein attributes for TPP1 Gene
- Size:
- 563 amino acids
- Molecular mass:
- 61248 Da
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Quaternary structure:
-
- Monomer (PubMed:19038967). Interacts with CLN5 (PubMed:19941651).
- SequenceCaution:
-
- Sequence=AAM08412.1; Type=Miscellaneous discrepancy; Note=Incorrectly indicated as originating from bovine.; Evidence={ECO:0000305}; Sequence=AAQ88866.1; Type=Frameshift; Positions=551; Evidence={ECO:0000305};
Protein Expression for TPP1 Gene
Selected DME Specific Peptides for TPP1 Gene
- O14773:
-
- GCHESCL
- PPLGFLNPRLYQ
- FPASSPYVTTVGGTSF
- GAEFHHYVGGP
- KCSYSPEPDQ
- RQRPEPQ
- YFNASGRAYPDVAALSDGYWVVSN
- RQAELLLPGAEFH
- QGRGRAGIEASLDV
- GAGCWSVSGRH
- NNSQACAQFLEQYFH
- PSYQEEAV
- LHLGVTPSV
- LVQAVSDP
- LLSNESALP
- YGKYLTLE
- EEELSLTFALRQQNVERLS
- YLMSAGANISTWVYSSPGRHE
- GLHRFPP
- TQDFLTCWLS
- VHTVSYGDDEDSLSS
- VDYISGGGFSNVFP
- MKAAARGLTLLFASGD
- QEPFLQWL
- YIQRVNTE
- VPIPWVSGTSASTPVFGG
Post-translational modifications for TPP1 Gene
- Activated by autocatalytic proteolytical processing upon acidification. N-glycosylation is required for processing and activity.
- Glycosylation at isoforms=210, Asn222, isoforms=2286, Asn313, and Asn443
- Modification sites at PhosphoSitePlus
Other Protein References for TPP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for TPP1 (Tripeptidyl-Peptidase I/TPP1)
-
Custom Antibody ServicesOriGene Antibodies for TPP1
- Novus Biologicals Antibodies for TPP1
-
Cloud-Clone Corp. Antibodies for TPP1
- Invitrogen Antibodies for TPP1
- antibodies-online Antibodies for TPP1: See all 80
- GeneTex TPP1 antibody for TPP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for TPP1
Protein Products
- R&D Systems Proteins and Enzymes for TPP1 (Tripeptidyl-Peptidase I/TPP1)
-
OriGene Purified Proteins for TPP1
- Search Origene for MassSpec and Protein Over-expression Lysates for TPP1
- Origene Custom Protein Services for TPP1
- Sino Biological Cell Lysates for TPP1
- Sino Biological Recombinant Proteins for TPP1
-
Cloud-Clone Corp. Proteins for TPP1
- antibodies-online Proteins for TPP1: See all 13
- Search antibodies-online for peptides
- Search GeneTex for Proteins for TPP1
-
ProSci Proteins for TPP1
Domains & Families for TPP1 Gene
Protein Domains for TPP1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TPP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for TPP1 Gene
Function for TPP1 Gene
Molecular function for TPP1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Release of an N-terminal tripeptide from a polypeptide, but also has endopeptidase activity.
- UniProtKB/Swiss-Prot Function:
- Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).
Enzyme Numbers (IUBMB) for TPP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | IMP | 10679303 |
| GO:0004252 | serine-type endopeptidase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 12134079 |
| GO:0008233 | peptidase activity | IMP | 9295267 |
| GO:0008236 | serine-type peptidase activity | IMP,IEA | 11054422 |
Phenotypes for TPP1 Gene
- MGI mutant phenotypes for TPP1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TPP1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TPP1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for TPP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TPP1 gene
- Search ViGene Biosciences for TPP1
CRISPR Products
-
OriGene CRISPR knockouts for TPP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TPP1
- GenScript: Design CRISPR guide RNA sequences for TPP1
miRNA for TPP1 Gene
- miRTarBase miRNAs that target TPP1
-
- hsa-mir-124-3p (MIRT022359)
- hsa-mir-877-5p (MIRT037364)
- hsa-mir-7-5p (MIRT054112)
- hsa-mir-450a-2-3p (MIRT459813)
- hsa-mir-6516-5p (MIRT459814)
- hsa-mir-6857-5p (MIRT459815)
- hsa-mir-6763-5p (MIRT459816)
- hsa-mir-3150a-3p (MIRT459817)
- hsa-mir-6810-5p (MIRT459818)
- hsa-mir-2110 (MIRT459819)
- hsa-mir-455-3p (MIRT459820)
- hsa-mir-502-5p (MIRT459821)
- hsa-mir-4671-3p (MIRT459822)
- hsa-mir-6780b-5p (MIRT459823)
- hsa-mir-4725-3p (MIRT459824)
- hsa-mir-4271 (MIRT459825)
- hsa-mir-6716-5p (MIRT459826)
- hsa-mir-6499-3p (MIRT459827)
- hsa-mir-219a-2-3p (MIRT459828)
- hsa-mir-219b-3p (MIRT459829)
- hsa-mir-1915-5p (MIRT459830)
- hsa-mir-6841-3p (MIRT459831)
- hsa-mir-6513-3p (MIRT459832)
- hsa-mir-454-3p (MIRT459833)
- hsa-mir-4295 (MIRT459834)
- hsa-mir-3666 (MIRT459835)
- hsa-mir-301b-3p (MIRT459836)
- hsa-mir-301a-3p (MIRT459837)
- hsa-mir-130b-3p (MIRT459838)
- hsa-mir-130a-3p (MIRT459839)
miRNA Products
- Search ViGene Biosciences for TPP1
Inhibitory RNA Products
- Origene shRNA, RNAi, and siRNA products in human, mouse, rat for TPP1
- Browse OriGene Inhibitory RNA Products For TPP1
-
ViGene Biosciences ready-to-package AAV shRNAs for TPP1 gene
Clone Products
- Sino Biological Human cDNA Clone for TPP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for TPP1
- VectorBuilder custom plasmid, inducible vectors for TPP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TPP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for TPP1
-
ViGene Biosciences adenoviral particle packaged cDNA for TPP1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TPP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TPP1 gene
No data available for Transcription Factor Targets and HOMER Transcription for TPP1 Gene
Localization for TPP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TPP1 Gene
- Lysosome. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:12643545}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| lysosome | 5 |
| mitochondrion | 3 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005764 | lysosome | IMP | 9295267 |
| GO:0042470 | melanosome | IEA | -- |
| GO:0043202 | lysosomal lumen | TAS | -- |
| GO:0070062 | extracellular exosome | IDA | 19056867 |
Pathways & Interactions for TPP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Unfolded Protein Response (UPR) | ||
| 2 | Lysosome |
-
|
|
| 3 | Innate Lymphoid Cell Differentiation Pathways | ||
| 4 | p53 Pathway (RnD) | ||
| 5 | Metabolism of proteins | ||
Pathways by source for TPP1 Gene
4 Reactome pathways for TPP1 Gene
1 KEGG pathway for TPP1 Gene
2 R&D Systems pathways for TPP1 Gene
Interacting Proteins for TPP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IMP,IEA | 9295267 |
| GO:0006629 | lipid metabolic process | TAS | 9295267 |
| GO:0007040 | lysosome organization | ISS | -- |
| GO:0007399 | nervous system development | IMP | 9295267 |
| GO:0007417 | central nervous system development | IBA | -- |
No data available for SIGNOR curated interactions for TPP1 Gene
Transcripts for TPP1 Gene
mRNA/cDNA for TPP1 Gene
- (1) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (676) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TPP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TPP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TPP1
- GenScript: Design CRISPR guide RNA sequences for TPP1
miRNA Products
- Search ViGene Biosciences for TPP1
Inhibitory RNA Products
- Origene shRNA, RNAi, and siRNA products in human, mouse, rat for TPP1
- Browse OriGene Inhibitory RNA Products For TPP1
-
ViGene Biosciences ready-to-package AAV shRNAs for TPP1 gene
Clone Products
- Sino Biological Human cDNA Clone for TPP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for TPP1
- VectorBuilder custom plasmid, inducible vectors for TPP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TPP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | · | 7f | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: |
| ExUns: | 7g | · | 7h | · | 7i | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||||||||||
| SP19: |
Expression for TPP1 Gene
This gene is overexpressed in Urine (8.6) and Adrenal (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TPP1 Gene
NURSA nuclear receptor signaling pathways regulating expression of TPP1 Gene:
TPP1SOURCE GeneReport for Unigene cluster for TPP1 Gene:
Hs.523454mRNA Expression by UniProt/SwissProt for TPP1 Gene:
O14773-TPP1_HUMAN
Tissue specificity:
Detected in all tissues examined with highest levels in heart and placenta and relatively similar levels in other tissues.
Evidence on tissue expression from TISSUES for TPP1 Gene
- Nervous system(5)
- Liver(4.3)
- Lung(4.1)
- Spleen(3.9)
- Kidney(3.7)
- Blood(3.4)
- Skin(3.2)
- Intestine(2.7)
- Eye(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TPP1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
Limb:
- foot
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for TPP1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TPP1 Gene
Orthologs for TPP1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TPP1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | TPP1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | TPP1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Tpp1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tpp1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TPP1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TPP1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TPP1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TPP1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tpp1 34 |
|
||
| Str.14983 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23928 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tpp1 34 35 |
|
||
| wufa01b09 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8262 34 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08418 34 |
|
- Species where no ortholog for TPP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for TPP1 Gene
No data available for Paralogs for TPP1 Gene
Variants for TPP1 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs119455953 | Pathogenic, Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] | 6,616,057(-) | CCGGG(C/T)GTTGG | reference, missense | |
| rs119455954 | Likely pathogenic, Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] | 6,616,056(-) | CGGGT(A/G)TTGGT | reference, missense | |
| rs119455956 | Pathogenic, Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] | 6,615,256(-) | TGGCC(A/G)TGCCT | reference, missense | |
| rs119455957 | Pathogenic, Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] | 6,616,696(-) | TGCTG(G/T)TGCCA | reference, missense | |
| rs119455958 | Pathogenic, Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500] | 6,616,690(-) | TGCCA(A/G)CATCT | reference, missense |
Residual Variation Intolerance Score:
83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.56;
55.99% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for TPP1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPP1 Gene
Disorders for TPP1 Gene
(11) MalaCards diseases for TPP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ceroid lipofuscinosis, neuronal, 2 |
|
|
| spinocerebellar ataxia, autosomal recessive 7 |
|
|
| neuronal ceroid lipofuscinosis |
|
|
| neuronal ceroid-lipofuscinoses |
|
|
| spinocerebellar ataxia 7 |
|
|
Search TPP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TPP1_HUMAN- Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles. {ECO:0000269 PubMed:10330339, ECO:0000269 PubMed:10665500, ECO:0000269 PubMed:11241479, ECO:0000269 PubMed:11339651, ECO:0000269 PubMed:11589012, ECO:0000269 PubMed:12376936, ECO:0000269 PubMed:12414822, ECO:0000269 PubMed:12698559, ECO:0000269 PubMed:14736728, ECO:0000269 PubMed:19201763, ECO:0000269 PubMed:20340139, ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:9295267}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spinocerebellar ataxia, autosomal recessive, 7 (SCAR7) [MIM:609270]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR7 patients show difficulty walking and writing, dysarthria, limb ataxia, and cerebellar atrophy. {ECO:0000269 PubMed:23418007}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for TPP1
No data available for Genatlas for TPP1 Gene
Publications for TPP1 Gene
- Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. (PMID: 9653647) Liu C.-G. … Lobel P. (Genomics 1998) 2 3 4 22 64
- Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). (PMID: 23418007) Sun Y. … Maat-Kievit A.J. (Hum. Mutat. 2013) 2 3 4 64
- Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. (PMID: 20340139) Walus M. … Golabek A.A. (Hum. Mutat. 2010) 3 4 22 64
- Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. (PMID: 19038967) Guhaniyogi J. … Lobel P. (J. Biol. Chem. 2009) 3 4 22 64
- Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. (PMID: 19038966) Pal A. … Steinfeld R. (J. Biol. Chem. 2009) 3 4 22 64
Products for TPP1 Gene
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- Custom Antibody ServicesOriGene Antibodies for TPP1
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- Mammalian expression: PiggyBac
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Sources for TPP1 Gene
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