PNPLA5 (patatin like domain 5, triacylglycerol lipase)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 150379
• Gene name: Patatin like domain 5, triacylglycerol lipase
• Gene symbol: PNPLA5
• Synonyms (NCBI Gene): GS2L, dJ388M5, dJ388M5.4
• Chromosome: 22
• Chromosome location: 22q13.31
• Summary: This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

miRNA Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1245479	hsa-miR-3132	CLIP-seq
MIRT1245480	hsa-miR-4481	CLIP-seq
MIRT1245481	hsa-miR-4745-5p	CLIP-seq
MIRT1245482	hsa-miR-4758-5p	CLIP-seq
MIRT1245483	hsa-miR-4787-5p	CLIP-seq
MIRT1245484	hsa-miR-342-5p	CLIP-seq
MIRT1245485	hsa-miR-4475	CLIP-seq
MIRT1245486	hsa-miR-4492	CLIP-seq
MIRT1245487	hsa-miR-4498	CLIP-seq
MIRT1245488	hsa-miR-4505	CLIP-seq
MIRT1245489	hsa-miR-4651	CLIP-seq
MIRT1245490	hsa-miR-4664-5p	CLIP-seq
MIRT1245491	hsa-miR-4704-3p	CLIP-seq
MIRT1245492	hsa-miR-4731-5p	CLIP-seq
MIRT1245493	hsa-miR-608	CLIP-seq
MIRT1245494	hsa-miR-762	CLIP-seq
MIRT2072623	hsa-miR-1976	CLIP-seq
MIRT2299807	hsa-miR-1184	CLIP-seq
MIRT2299808	hsa-miR-4418	CLIP-seq
MIRT2299809	hsa-miR-4420	CLIP-seq
MIRT1245486	hsa-miR-4492	CLIP-seq
MIRT1245487	hsa-miR-4498	CLIP-seq
MIRT2299810	hsa-miR-509-3-5p	CLIP-seq
MIRT2299811	hsa-miR-509-5p	CLIP-seq
MIRT1245494	hsa-miR-762	CLIP-seq
MIRT1245479	hsa-miR-3132	CLIP-seq
MIRT1245480	hsa-miR-4481	CLIP-seq
MIRT1245481	hsa-miR-4745-5p	CLIP-seq
MIRT1245482	hsa-miR-4758-5p	CLIP-seq
MIRT1245483	hsa-miR-4787-5p	CLIP-seq
MIRT2596515	hsa-miR-1229	CLIP-seq
MIRT2596516	hsa-miR-140-3p	CLIP-seq
MIRT2596517	hsa-miR-150	CLIP-seq
MIRT2596518	hsa-miR-2115	CLIP-seq
MIRT2596519	hsa-miR-3121-5p	CLIP-seq
MIRT2596520	hsa-miR-3977	CLIP-seq
MIRT2596521	hsa-miR-4676-5p	CLIP-seq
MIRT2596522	hsa-miR-4798-3p	CLIP-seq
MIRT2596523	hsa-miR-501-3p	CLIP-seq
MIRT2596524	hsa-miR-502-3p	CLIP-seq
MIRT2596525	hsa-miR-516a-3p	CLIP-seq
MIRT2596526	hsa-miR-562	CLIP-seq
MIRT2596527	hsa-miR-575	CLIP-seq
MIRT2596528	hsa-miR-767-5p	CLIP-seq
MIRT2596515	hsa-miR-1229	CLIP-seq
MIRT2596516	hsa-miR-140-3p	CLIP-seq
MIRT2596518	hsa-miR-2115	CLIP-seq
MIRT2596519	hsa-miR-3121-5p	CLIP-seq
MIRT2596520	hsa-miR-3977	CLIP-seq
MIRT2596522	hsa-miR-4798-3p	CLIP-seq
MIRT2596523	hsa-miR-501-3p	CLIP-seq
MIRT2596524	hsa-miR-502-3p	CLIP-seq
MIRT2596525	hsa-miR-516a-3p	CLIP-seq
MIRT2596528	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004806	Function	Triacylglycerol lipase activity	EXP	17603008
GO:0004806	Function	Triacylglycerol lipase activity	IBA
GO:0004806	Function	Triacylglycerol lipase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005811	Component	Lipid droplet	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IBA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019433	Process	Triglyceride catabolic process	IBA
GO:0019433	Process	Triglyceride catabolic process	TAS
GO:0055088	Process	Lipid homeostasis	IBA

Other IDs

• MIM: 611589
• HGNC: 24888
• e!Ensembl: ENSG00000100341

Protein

• UniProt ID: Q7Z6Z6
• Protein name: Patatin-like phospholipase domain-containing protein 5 (EC 3.1.1.3) (GS2-like protein)
• Protein function: Has abundant triacylglycerol lipase activity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01734	Patatin	12 → 180	Patatin-like phospholipase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain and pituitary gland. {ECO:0000269|PubMed:16799181}.
• Sequence:

  MGFLEEEGRWNLSFSGAGYLGAHHVGATECLRQRAPRLLQGARRIYGSSSGALNAVSIVC
  GKSVDFCCSHLLGMVGQLERLSLSILHPAYAPIEHVKQQLQDALPPDAHVLASQRLGISL
  TRWPDGRNFLVTDFATCDELIQALVCTLYFPFYCGLIPPEFRGERYIDGALSNNLPFADC
  PSTITVSPFHGTVDICPQSTSPNLHELNVFNFSFQISTENFFLGLICLIPPSLEVVADNC
  RQGYLDALRFLERRGLTKEPVLWTLVSKEPPAPADGNWDAGCDQRWKGGLSLNWKVPHVQ
  VKDVPNFEQLSPELEAALKKACTRDPSRWARFWHSGPGQVLTYLLLPCTLPFEYIYFRSR
  RLVVWLPDVPADLWWMQGLLRNMALEVFSRTKAQLLGPISPPATRVLETSPLQPQIAPHR
  EELGPTHQA

• Sequence length: 429

Pathways

Reactome Pathway:

Triglyceride catabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
PNPLA5-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	31795497		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	31795497		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for PNPLA5.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to PNPLA5.