• Gene id: 285848

Gene Summary

• Gene Symbol: PNPLA1   Gene   UCSC   Ensembl
• Aliases: ARCI10, dJ50J22.1
• Gene name: patatin like phospholipase domain containing 1
• Alternate names: patatin-like phospholipase domain-containing protein 1,
• Gene location: 6p21.31 (36242522: 36313954)     Exons: 11     NC_000006.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q8N8W4  
  • Name: Patatin like phospholipase domain containing protein 1 (EC 3.1.1. )
  • Length: 532  
  • Mass: 57875
  • Tissue specificity: Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filamen
• Sequence:

  MEEQVFKGDPDTPHSISFSGSGFLSFYQAGAVDALRDLAPRMLETAHRFAGTSAGAVIAALAICGIEMDEYLRVL
  NVGVAEVKKSFLGPLSPSCKMVQMMRQFLYRVLPEDSYKVTTGKLHVSLTRLTDGENVVVSEFTSKEELIEALYC
  SCFVPVYCGLIPPTYRGVRYIDGGFTGMQPCAFWTDAITISTFSGQQDICPRDCPAIFHDFRMFNCSFQFSLENI
  ARMTHALFPPDLVILHDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVEVYCQIELALGNECPERSQPSLRAR
  QASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQTLEFTCESPVSAPVSPLEQPPAQPLASSTPLSLSGMPPVSFP
  AVHKPPSSTPGSSLPTPPPGLSPLSPQQQVQPSGSPARSLHSQAPTSPRPSLGPSTVGAPQTLPRSSLSAFPAQP
  PVEELGQEQPQAVALLVSSKPKSAVPLVHVKETVSKPYVTESPAEDSNWVNKVFKKNKQKTSGTRKGFPRHSGSK
  KPSSKVQ

• Structural information:
  • Protein Domains: (16..18-)
    (/note="PNPLA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01161"-)
  • Interpro: IPR016035  IPR039180  IPR033562  IPR002641  
  • Prosite: PS51635
  • CDD: cd07219
  • STRING: ENSP00000378072
• Other Databases: GeneCards:  PNPLA1  Malacards:  PNPLA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004806	triglyceride lipase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0055088	lipid homeostasis	IBA	biological process
GO:0005811	lipid droplet	IBA	cellular component
GO:0019433	triglyceride catabolic process	IBA	biological process
GO:0005737	cytoplasm	IDA	cellular component
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:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Autosomal recessive congenital ichthyosis	KEGG:H00734
Autosomal recessive congenital ichthyosis	KEGG:H00734
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