PPT1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
PPT1
PDB 1eh5 EBI.jpg
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PPT1, CLN1, INCL, PPT, palmitoyl-protein thioesterase 1
External IDs MGI: 1298204 HomoloGene: 7488 GeneCards: PPT1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000310
NM_001142604

NM_008917

RefSeq (protein)

NP_000301
NP_001136076

NP_032943.2
NP_032943

Location (UCSC) Chr 1: 40.07 – 40.1 Mb Chr 4: 122.84 – 122.86 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene.[3][4][5]

Function[edit]

PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. This enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.[3]

Clinical significance[edit]

Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4).[3]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b c "Entrez Gene: palmitoyl-protein thioesterase 1". 
  4. ^ Hellsten E, Vesa J, Speer MC, Mäkelä TP, Järvelä I, Alitalo K, Ott J, Peltonen L (June 1993). "Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis". Genomics. 16 (3): 720–5. doi:10.1006/geno.1993.1253. PMID 8325646. 
  5. ^ Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (August 1995). "Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis". Nature. 376 (6541): 584–7. doi:10.1038/376584a0. PMID 7637805. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.