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Tbio
PNPLA1
Patatin-like phospholipase domain-containing protein 1

Protein Summary
Description
Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000312917
  • ENSP00000321116
  • ENSG00000180316
  • ENST00000388715
  • ENSP00000373367
  • ENST00000394571
  • ENSP00000378072

Symbol
  • ARCI10
  • dJ50J22.1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
microRNA
0.47
tissue
0.47
cell line
0.43
transcription factor
0.42
phenotype
0.41


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 41.34   (req: < 5)
Gene RIFs: 17   (req: <= 3)
Antibodies: 120   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 41.34   (req: >= 5)
Gene RIFs: 17   (req: > 3)
Antibodies: 120   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0