PNPLA1

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]

Description

Patatin like phospholipase domain containing 1

Tissue specificity

Tissue enriched (skin)

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins

Chromosome

6 (36243203 - 36313955)

Ensembl ID

ENSG00000180316  (ver. 103.38)

Orthologs

Mouse Pnpla1: ENSMUSG00000043286

UniProt

Q8N8W4

neXtProt

NX_Q8N8W4

Human splice variants
Mouse splice variants

Protein structure