Basic Information
Symbol
TPP1
RNA class
mRNA
Alias
Tripeptidyl Peptidase 1
TPP-1
LPIC
CLN2
Lysosomal Pepstatin-Insensitive Carboxypeptidase
Cell Growth-Inhibiting Gene 1 Protein
Tripeptidyl Aminopeptidase
Tripeptidyl Peptidase I
Tripeptidyl-Peptidase 1
EC 3.4.14.9
SCAR7
Ceroid-Lipofuscinosis, Neuronal 2, Late Infantile (Jansky-Bielschowsky Disease)
Spinocerebellar Ataxia, Autosomal Recessive 7
Lysosomal Pepstatin Insensitive Protease
Lysosomal Pepstatin-Insensitive Protease
Growth-Inhibiting Protein 1
Tripeptidyl-Peptidase I
TPP I
TPP-I
GIG1
Location (GRCh38)
11:6612768-6619448
Forensic tag(s)
-
MANE select
Transcript ID
NM_000391.4
Sequence length
3492.0 nt
GC content
0.5049
Transcripts
| ID | Sequence | Length | GC content |
|---|---|---|---|
| AGCAGAUCCGCGGAAGGGCAGAAUGGGACUCCAAGCCUGCCUCCUAGGG… | 3492 nt | 0.5049 |
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]
Forensic Context
No relevant information is available at the moment.