PNPLA1
Gene Information
- Official Symbol: PNPLA1
- Official Name: patatin like phospholipase domain containing 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 285848
- UniProt: Q8N8W4
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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 Summary: Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. {ECO:0000269|PubMed:22246504}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 6693
- Expression level (log2 read counts): 1.19
PNPLA1 Expression in NALM6 Cells: 1.19
