Version 5.4
| Homo sapiens Gene: PNPLA1 | |||||||||
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| 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
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| 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] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 6:36243203-36308595 | ||||||||
| Strand | Forward strand | ||||||||
| Band | p21.31 | ||||||||
| Transcripts |
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| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| 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 | |||||||||