Gene Symbol Report 
PPT1
| Approved Symbol |
PPT1 |
|---|---|
| Approved Name |
palmitoyl-protein thioesterase 1 |
| HGNC ID |
HGNC:9325 |
| Previous Symbols & Names |
PPT |
| Synonyms |
"ceroid-lipofuscinosis, neuronal 1, infantile", CLN1, INCL |
| Locus Type |
gene with protein product |
| Chromosomal Location |
1p32 |
| SPECIALIST DATABASE |
EC:3.1.2.22 C |
|
|---|---|---|
| HOMOLOGS |
MGI:1298204 C Mouse Symbol: Ppt1 RGD:61994 D Rat Symbol: Ppt1 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:U44772 EMBL-Bank DDBJ C RefSeq:NM_000310 C CCDS:CCDS447.1 C Vega:OTTHUMG00000004495 C |
|
| GENE RESOURCES |
Entrez Gene:5538 C Ensembl:ENSG00000131238 C UCSC:uc001cfb.2 D Vega:OTTHUMG00000004495 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:P50897 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Neuronal Ceroid Lipofuscinoses; NCL Mutations C LSDB:Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
