InnateDB Protein
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IDBP-84861.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PNPLA1
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Protein Name
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patatin-like phospholipase domain containing 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000321116
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InnateDB Gene
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IDBG-84859 (PNPLA1)
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Protein Structure
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Function |
Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. {ECO:0000269PubMed:22246504}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:22246504}. Note=Clearly distributed in the cytoplasm of keratinocytes.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR016035
Acyl transferase/acyl hydrolase/lysophospholipase
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8N8W4
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PhosphoSite |
PhosphoSite-Q8N8W4
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
285848
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UniGene |
Hs.407002
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RefSeq |
NP_001139188
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HUGO |
HGNC:21246
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OMIM |
612121
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CCDS |
CCDS47416
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HPRD |
17869
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IMGT |
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EMBL |
AK096074
AM182887
BC103905
BC103906
BC103907
Z84484
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GenPept |
AAI03906
AAI03907
AAI03908
BAC04697
CAI21612
CAI21613
CAJ58679
CAM45844
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