PNPLA4 Gene Summary [Human]

This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]

Details

Type
Protein Coding
Official Symbol
PNPLA4
Official Name
patatin like phospholipase domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24887]
Ensembl ID
ENSG00000006757
Bio databases IDs NCBI: 8228 Ensembl: ENSG00000006757
Aliases patatin like phospholipase domain containing 4
Synonyms DXS1283E, GS2, iPLA2eta, patatin like phospholipase domain containing 4, RGD1562200
Species
Human, Homo sapiens
OrthologiesRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PNPLA4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • acylglycerol O-acyltransferase
  • Patatins and Phospholipases
  • enzyme
  • retinyl-palmitate esterase
  • phospholipase A2
  • triacylglycerol lipase

Pathways

Biological processes and signaling networks where the PNPLA4 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast cancer
  • Turner syndrome
  • Klinefelter syndrome
regulated by
  • camptothecin
  • Influenza A virus (A/Bangkok/RX73(H3N2))
  • methotrexate
  • bromoenol lactone
regulates
  • triacylglycerol
  • 1,2-diolein diacylclycerol
  • triolein
  • 1-oleoylglycerol

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cellular membrane
  • Mitochondria
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PNPLA4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • lipid homeostasis
  • retinol metabolic process
  • triglyceride catabolic process

Cellular Component

Where in the cell the gene product is active
  • lipid particle
  • cytoplasm
  • mitochondrion
  • membrane
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • phospholipase A2 activity
  • mono-olein transacylation activity
  • diolein transacylation activity
  • retinyl-palmitate esterase activity
  • all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity
  • triglyceride lipase activity
  • acylglycerol O-acyltransferase activity

Gene-Specific Assays for Results You Can Trust

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