PPT1

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Palmitoyl-protein thioesterase 1
PDB 1eh5 EBI.jpg
PDB rendering based on 1eh5.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PPT1 ; CLN1; INCL; PPT
External IDs OMIM600722 MGI1298204 HomoloGene7488 GeneCards: PPT1 Gene
EC number 3.1.2.22
Orthologs
Species Human Mouse
Entrez 5538 19063
Ensembl ENSG00000131238 ENSMUSG00000028657
UniProt P50897 O88531
RefSeq (mRNA) NM_000310 NM_008917
RefSeq (protein) NP_000301 NP_032943
Location (UCSC) Chr 1:
40.54 – 40.56 Mb
Chr 4:
122.84 – 122.86 Mb
PubMed search [1] [2]

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.[1][2][3]

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.[1]

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).[1]

References[edit]

  1. ^ a b c "Entrez Gene: palmitoyl-protein thioesterase 1". 
  2. ^ 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. 
  3. ^ 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.