Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q7128407> ?p ?o }
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- Q7128407 subject Q8395773.
- Q7128407 subject Q9089708.
- Q7128407 subject Q9531303.
- Q7128407 abstract "Palmitoyl protein thioesterases are enzymes (EC 3.1.2.22) that remove thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain. Direct sequencing of cDNAs derived from brain RNA of INCL patients has shown a mis-sense transversion of A to T at nucleotide position 364, which results in substitution of Trp for Arg at position 122 in the protein - Arg 122 is immediately adjacent to a lipase consensus sequence that contains the putative active site Ser of PPT. The occurrence of this and two other independent mutations in the PPT gene strongly suggests that defects in this gene cause INCL.".
- Q7128407 arm "p".
- Q7128407 band "21.3".
- Q7128407 band "32".
- Q7128407 chromosome "1".
- Q7128407 chromosome "6".
- Q7128407 ecNumber "3.1.2.22".
- Q7128407 entrezgene "5538".
- Q7128407 entrezgene "9374".
- Q7128407 hgncid "9325".
- Q7128407 hgncid "9326".
- Q7128407 omim "600722".
- Q7128407 omim "603298".
- Q7128407 refseq "NM_000310".
- Q7128407 refseq "NM_138717".
- Q7128407 symbol "G14".
- Q7128407 symbol "PPT".
- Q7128407 symbol "PPT1".
- Q7128407 symbol "PPT2".
- Q7128407 symbol "Palm_thioest".
- Q7128407 thumbnail 1eh5_opm.png?width=300.
- Q7128407 uniprot "P50897".
- Q7128407 uniprot "Q9UMR5".
- Q7128407 wikiPageExternalLink br.fcgi?book=gene&part=ncl.
- Q7128407 wikiPageWikiLink Q18030738.
- Q7128407 wikiPageWikiLink Q18034041.
- Q7128407 wikiPageWikiLink Q209727.
- Q7128407 wikiPageWikiLink Q422794.
- Q7128407 wikiPageWikiLink Q423279.
- Q7128407 wikiPageWikiLink Q4358039.
- Q7128407 wikiPageWikiLink Q501620.
- Q7128407 wikiPageWikiLink Q83330.
- Q7128407 wikiPageWikiLink Q8395773.
- Q7128407 wikiPageWikiLink Q9089708.
- Q7128407 wikiPageWikiLink Q9531303.
- Q7128407 altsymbols "G14".
- Q7128407 altsymbols "PPT".
- Q7128407 arm "p".
- Q7128407 band "21.3".
- Q7128407 band "32".
- Q7128407 chromosome "1".
- Q7128407 chromosome "6".
- Q7128407 ecNumber "3.1".
- Q7128407 ecnumber "3.1".
- Q7128407 entrezgene "5538".
- Q7128407 entrezgene "9374".
- Q7128407 hgncid "9325".
- Q7128407 hgncid "9326".
- Q7128407 name Q18030738.
- Q7128407 name Q18034041.
- Q7128407 name "palmitoyl [protein] hydrolase".
- Q7128407 omim "600722".
- Q7128407 omim "603298".
- Q7128407 refseq "NM_000310".
- Q7128407 refseq "NM_138717".
- Q7128407 symbol Q18030738.
- Q7128407 symbol Q18034041.
- Q7128407 symbol "Palm_thioest".
- Q7128407 uniprot "P50897".
- Q7128407 uniprot "Q9UMR5".
- Q7128407 type Biomolecule.
- Q7128407 type Protein.
- Q7128407 type Thing.
- Q7128407 type Q206229.
- Q7128407 type Q8054.
- Q7128407 comment "Palmitoyl protein thioesterases are enzymes (EC 3.1.2.22) that remove thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.".
- Q7128407 label "Palmitoyl protein thioesterase".
- Q7128407 depiction 1eh5_opm.png.
- Q7128407 name "palmitoyl-protein thioesterase 1".
- Q7128407 name "palmitoyl-protein thioesterase 2".