• Gene id: 150379

Gene Summary

• Gene Symbol: PNPLA5   Gene   UCSC   Ensembl
• Aliases: GS2L, dJ388M5, dJ388M5.4
• Gene name: patatin like phospholipase domain containing 5
• Alternate names: patatin-like phospholipase domain-containing protein 5, GS2-like protein,
• Gene location: 22q13.31 (43892012: 43879677)     Exons: 9     NC_000022.11
• Gene summary(Entrez): 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]
• OMIM: 613631

Protein Summary

• Protein general information: Q7Z6Z6  
  • Name: Patatin like phospholipase domain containing protein 5 (EC 3.1.1. ) (GS2 like protein)
  • Length: 429  
  • Mass: 47912
  • Tissue specificity: Expressed in brain and pituitary gland. {ECO
• Sequence:

  MGFLEEEGRWNLSFSGAGYLGAHHVGATECLRQRAPRLLQGARRIYGSSSGALNAVSIVCGKSVDFCCSHLLGMV
  GQLERLSLSILHPAYAPIEHVKQQLQDALPPDAHVLASQRLGISLTRWPDGRNFLVTDFATCDELIQALVCTLYF
  PFYCGLIPPEFRGERYIDGALSNNLPFADCPSTITVSPFHGTVDICPQSTSPNLHELNVFNFSFQISTENFFLGL
  ICLIPPSLEVVADNCRQGYLDALRFLERRGLTKEPVLWTLVSKEPPAPADGNWDAGCDQRWKGGLSLNWKVPHVQ
  VKDVPNFEQLSPELEAALKKACTRDPSRWARFWHSGPGQVLTYLLLPCTLPFEYIYFRSRRLVVWLPDVPADLWW
  MQGLLRNMALEVFSRTKAQLLGPISPPATRVLETSPLQPQIAPHREELGPTHQA

• Structural information:
  • Protein Domains: (12..18-)
    (/note="PNPLA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01161"-)
  • Interpro: IPR016035  IPR033562  IPR002641  
  • Prosite: PS51635
  • STRING: ENSP00000216177
• Other Databases: GeneCards:  PNPLA5  Malacards:  PNPLA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019433	triglyceride catabolic process	IBA	biological process
GO:0005811	lipid droplet	IBA	cellular component
GO:0055088	lipid homeostasis	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004806	triglyceride lipase activity	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0004806	triglyceride lipase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0019433	triglyceride catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq