PNPLA1 Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: EC 3.1.1.-; Hydrolase
Chromosomal Location of human Ortholog: 6p21.31
Cellular Component:  cytoplasm
Disease: Ichthyosis, Congenital, Autosomal Recessive 10
Reference #:  Q8N8W4 (UniProtKB)
Alt. Names/Synonyms: ARCI10; dJ50J22.1; FLJ38755; MGC119319; MGC119320; MGC119321; patatin like phospholipase domain containing 1; patatin-like phospholipase domain containing 1; Patatin-like phospholipase domain-containing protein 1; PLPL1; PNPLA1
Gene Symbols: PNPLA1
Molecular weight: 57,875 Da
Basal Isoelectric point: 8.35  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene