InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PNPLA1

Summary

InnateDB Protein

IDBP-84863.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PNPLA1

Protein Name

patatin-like phospholipase domain containing 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000373367

InnateDB Gene

IDBG-84859 (PNPLA1)

Protein Structure

UniProt Annotation

Function

Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. {ECO:0000269PubMed:22246504}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:22246504}. Note=Clearly distributed in the cytoplasm of keratinocytes.

Disease Associations

Ichthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM:615024]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269PubMed:22246504}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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. {ECO:0000269PubMed:16799181, ECO:0000269PubMed:22246504}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function