Homo sapiens Gene: PNPLA1
Summary
InnateDB Gene IDBG-84859.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PNPLA1
Gene Name patatin-like phospholipase domain containing 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000180316
Encoded Proteins
patatin-like phospholipase domain containing 1
patatin-like phospholipase domain containing 1
patatin-like phospholipase domain containing 1
patatin-like phospholipase domain containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:36243203-36308595
Strand Forward strand
Band p21.31
Transcripts
ENST00000312917 ENSP00000321116
ENST00000388715 ENSP00000373367
ENST00000394571 ENSP00000378072
ENST00000457797 ENSP00000391868
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
Accession GO Term
GO:0016787 hydrolase activity
Biological Process
GO:0006629 lipid metabolic process
GO:0008152 metabolic process
GO:0016042 lipid catabolic process
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.407002
RefSeq NM_001145716 NM_001145717 NM_173676
HUGO
OMIM
CCDS CCDS34438 CCDS47416 CCDS54997
HPRD 17869
IMGT
EMBL
GenPept
RNA Seq Atlas