TPP1 tripeptidyl peptidase 1 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: TPP1provided by VGNC
Official Full Name: tripeptidyl peptidase 1provided by VGNC
Primary source: VGNC:VGNC:47747
See related: Ensembl:ENSCAFG00845008889
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Also known as: CLN2
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	21	NC_051825.1 (30747948..30753157, complement)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	21	NC_006603.4 (29623623..29628832, complement)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	21	NC_049242.1 (30429691..30434901, complement)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	21	NC_049281.1 (30068707..30073915, complement)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	21	NC_049762.1 (30234365..30239567, complement)

Chromosome 21 - NC_051825.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Perfect concordance between the TPP1 mutation and the retinopathy in the large number of dogs examined indicates that the retinopathy most likely occurs as a direct result of the TPP1 mutation.
Title: Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
Nucleotide sequence analysis of canine TPP1, the ortholog of human CLN2, revealed a single nucleotide deletion in exon 4 which predicted a frame shift with a premature stop codon.
Title: A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.

Submit: New GeneRIF Correction

General gene information

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Markers

PCDH16_1801 (e-PCR)
- UniSTS:280891

CLN2 (e-PCR)
- UniSTS:262904

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info	PubMed
enables tripeptidyl-peptidase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in central nervous system development	IEA Inferred from Electronic Annotation more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: tripeptidyl-peptidase 1

Names: LPIC; TPP-1; TPP-I; lysosomal pepstatin insensitive protease; tripeptidyl aminopeptidase; tripeptidyl-peptidase I

NP_001013869.1

EC 3.4.14.9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001013847.1 → NP_001013869.1 tripeptidyl-peptidase 1 precursor

See identical proteins and their annotated locations for NP_001013869.1

Status: PROVISIONAL

Source sequence(s)

AF114167

UniProtKB/Swiss-Prot

Q45VT9, Q9XSB8

UniProtKB/TrEMBL

A0A8C0NG51

Related

ENSCAFP00845012197.1, ENSCAFT00845015684.1

Conserved Domains (2) summary

cd04056
Location:199 → 557

Peptidases_S53; Peptidase domain in the S53 family

cd11377
Location:34 → 173

Pro-peptidase_S53; Activation domain of S53 peptidases