LMPD Database

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LMP006670

UniProt Annotations

Entry Information
Gene Namepatatin-like phospholipase domain containing 1
Protein EntryPLPL1_HUMAN
UniProt IDQ8N8W4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N8W4-1; Sequence=Displayed; Name=2; IsoId=Q8N8W4-2; Sequence=VSP_026371; Note=Inactive.; Name=3; IsoId=Q8N8W4-3; Sequence=VSP_026371, VSP_026372; Note=Inactive. No experimental confirmation available.;
DiseaseIchthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM
FunctionLipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism.
Sequence CautionSequence=CAI21612.2; Type=Erroneous gene model prediction; Evidence= ;
SimilarityContains 1 patatin domain.
Subcellular LocationCytoplasm . Note=Clearly distributed in the cytoplasm of keratinocytes.
Tissue SpecificityExpressed 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. {ECO