• Gene id: 375775

Gene Summary

• Gene Symbol: PNPLA7   Gene   UCSC   Ensembl
• Aliases: C9orf111, NTE-R1, NTEL1
• Gene name: patatin like phospholipase domain containing 7
• Alternate names: patatin-like phospholipase domain-containing protein 7,
• Gene location: 9q34.3 (137550665: 137459398)     Exons: 38     NC_000009.12
• Gene summary(Entrez): Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]
• OMIM: 103320

Protein Summary

• Protein general information: Q6ZV29  
  • Name: Patatin like phospholipase domain containing protein 7 (EC 3.1.1. ) (EC 3.1.1.5)
  • Length: 1317  
  • Mass: 145705
• Sequence:

  MEEEKDDSPQLTGIAVGALLALALVGVLILFMFRRLRQFRQAQPTPQYRFRKRDKVMFYGRKIMRKVTTLPNTLV
  ENTALPRQRARKRTKVLSLAKRILRFKKEYPALQPKEPPPSLLEADLTEFDVKNSHLPSEVLYMLKNVRVLGHFE
  KPLFLELCKHIVFVQLQEGEHVFQPREPDPSICVVQDGRLEVCIQDTDGTEVVVKEVLAGDSVHSLLSILDIITG
  HAAPYKTVSVRAAIPSTILRLPAAAFHGVFEKYPETLVRVVQIIMVRLQRVTFLALHNYLGLTTELFNAESQAIP
  LVSVASVAAGKAKKQVFYGEEERLKKPPRLQESCDSDHGGGRPAAAGPLLKRSHSVPAPSIRKQILEELEKPGAG
  DPDPSAPQGGPGSATSDLGMACDRARVFLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETLASRKSDA
  IFRAAKKDLLTLMKLEDSSLLDGRVALLHVPAGTVVSRQGDQDASILFVVSGLLHVYQRKIGSQEDTCLFLTRPG
  EMVGQLAVLTGEPLIFTVKANRDCSFLSISKAHFYEIMRKQPTVVLGVAHTVVKRMSSFVRQIDFALDWVEVEAG
  RAIYRQGDKSDCTYIMLSGRLRSVIRKDDGKKRLAGEYGRGDLVGVVETLTHQARATTVHAVRDSELAKLPAGAL
  TSIKRRYPQVVTRLIHLLGEKILGSLQQGPVTGHQLGLPTEGSKWDLGNPAVNLSTVAVMPVSEEVPLTAFALEL
  EHALSAIGPTLLLTSDNIKRRLGSAALDSVHEYRLSSWLGQQEDTHRIVLYQADGTLTPWTQRCVRQADCILIVG
  LGDQEPTVGELERMLESTAVRAQKQLILLHREEGPAPARTVEWLNMRSWCSGHLHLCCPRRVFSRRSLPKLVEMY
  KHVFQRPPDRHSDFSRLARVLTGNAIALVLGGGGARGCAQVGVLKALAECGIPVDMVGGTSIGAFVGALYSEERN
  YSQMRIRAKQWAEGMTSLMKAALDLTYPITSMFSGAGFNSSIFSVFKDQQIEDLWIPYFAITTDITASAMRVHTD
  GSLWWYVRASMSLSGYMPPLCDPKDGHLLMDGGYINNLPADVARSMGAKVVIAIDVGSRDETDLTNYGDALSGWW
  LLWKRWNPLATKVKVLNMAEIQTRLAYVCCVRQLEVVKSSDYCEYLRPPIDSYSTLDFGKFNEICEVGYQHGRTV
  FDIWGRSGVLEKMLRDQQGPSKKPASAVLTCPNASFTDLAEIVSRIEPAKPAMVDDESDYQTEYEEELLDVPRDA
  YADFQSTSAQQGSDLEDESSLRHRHPSLAFPKLSEGSSDQDG

• Structural information:
  • Protein Domains: (928..109-)
    (/note="PNPLA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01161"-)
  • Interpro: IPR016035  IPR018490  IPR000595  IPR002641  IPR014710  
  • Prosite: PS50042 PS51635
  • CDD: cd00038
  • STRING: ENSP00000384610
• Other Databases: GeneCards:  PNPLA7  Malacards:  PNPLA7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004622	lysophospholipase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0102545	phosphatidyl phospholipase B activity	IEA	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0034638	phosphatidylcholine catabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray