PPT1

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.[5][6][7]

PPT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPPT1, CLN1, INCL, PPT, palmitoyl-protein thioesterase 1
External IDsOMIM: 600722 MGI: 1298204 HomoloGene: 7488 GeneCards: PPT1
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p34.2Start40,071,461 bp[1]
End40,097,727 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

5538

19063

Ensembl

ENSG00000131238

ENSMUSG00000028657

UniProt

P50897

O88531

RefSeq (mRNA)

NM_000310
NM_001142604
NM_001363695

NM_008917

RefSeq (protein)

NP_000301
NP_001136076
NP_001350624

NP_032943

Location (UCSC)Chr 1: 40.07 – 40.1 MbChr 4: 122.84 – 122.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.[5]

Clinical significance

Defects in this gene are a cause of neuronal ceroid lipofuscinosis type 1 (CLN1). <ref Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. [Review] Warrier V; Vieira M; Mole SE. Biochimica et Biophysica Acta. 1832(11):1827-30, 2013>

References

  1. GRCh38: Ensembl release 89: ENSG00000131238 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000028657 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: palmitoyl-protein thioesterase 1".
  6. 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.
  7. 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. Bibcode:1995Natur.376..584V. doi:10.1038/376584a0. PMID 7637805. S2CID 4322423.

Further reading

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


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