| Type | Description |
|---|---|
| Definition | tripeptidyl peptidase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-12 16:04:00 | A High-Content Screen Identifies TPP1 and Aurora B as Regulators of Axonal Mitochondrial Transport. | 31533043 |
| 2020-05-23 12:09:00 | In cases of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), TPP1 mutations c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occur in 60% of affected individuals in the sample, and account for 50% of disease-associated alleles. At least 86 variants (66%) are private to single families. Homozygosity occurs in 45% of individuals where both alleles are known (87% of reported individuals). | 31283065 |
| 2020-04-18 11:20:00 | The TPP1 activity was increased more than 3-fold in mucinous cysts relative to nonmucinous cysts. Moreover, TPP1 activity is primarily associated with mucinous cysts that harbor high-grade dysplasia or invasive pancreatic carcinoma. | 31256057 |
| 2020-01-25 14:01:00 | Study performed targeted next-generation sequencing in a cohort of patients with epilepsies. A homozygous missense mutation in TPP1 was identified in a family with two affected siblings. The authors further systematically reviewed all TPP1 mutations and analyzed the correlations between genotype and phenotype. | 31059981 |
| 2019-03-16 13:10:00 | The results demonstrate that these patient iPSC derived NCL NSCs are valid cell- based disease models with characteristic disease phenotypes that can be used for study of disease pathophysiology and drug development. | 29631617 |
| Type | IDs |
|---|---|
| Synonymous | CLN2, GIG1, LPIC, SCAR7, TPP-1 |
| Gene |
UniProtKB-ID:
TPP1_HUMAN
UniprotKB:
O14773
UniParc:
UPI00004A0699,
UPI0000001109
EMBL:
AY268890,
AF017456,
BC014863,
AF039704,
AY358502,
AF491290,
AK222499
Ensembl:
ENSG00000166340
KO:
hsa:1200
|
| Nucleutide sequences |
EMBL-CDS:
AAM08412.1,
AAQ72732.1,
AAH14863.1,
AAQ88866.1,
BAD96219.1,
AAC98480.1,
AAB80725.1
Gene_ORFName:
GIG1,
UNQ267/PRO304
Ensembl_TRS:
ENST00000647152,
ENST00000642892,
ENST00000299427,
ENST00000645620,
ENST00000533371
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000493657,
ENSP00000299427,
ENSP00000437066,
ENSP00000495893,
ENSP00000494165
RefSeq:
NP_000382.3
|
| Others |
UniRef100:
UniRef100_O14773
UniRef90:
UniRef90_O14773
UniRef50:
UniRef50_O14773
UniGene:
Hs.523454
CCDS:
CCDS7770.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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