LIPN (lipase family member N)

Gene

• Entrez ID: 643418
• Gene name: Lipase family member N
• Gene symbol: LIPN
• Synonyms (NCBI Gene): ARCI8, LI4, LIPL4, bA186O14.3
• Chromosome: 10
• Chromosome location: 10q23.31
• Summary: The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs759880018	GA>-	Pathogenic	Coding sequence variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004465	Function	Lipoprotein lipase activity	TAS
GO:0004771	Function	Sterol ester esterase activity	IEA
GO:0004806	Function	Triacylglycerol lipase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0006629	Process	Lipid metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016298	Function	Lipase activity	IBA
GO:0016298	Function	Lipase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0070268	Process	Cornification	TAS

Other IDs

• MIM: 613924
• HGNC: 23452
• e!Ensembl: ENSG00000204020

Protein

• UniProt ID: Q5VXI9
• Protein name: Lipase member N (EC 3.1.1.13) (EC 3.1.1.3) (Lipase-like abhydrolase domain-containing protein 4)
• Protein function: Plays a highly specific role in the last step of keratinocyte differentiation. Contains two distinct domains: the alpha/beta hydrolase fold and the abhydrolase-associated lipase region, also features the consensus sequence of the active site of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04083	Abhydro_lipase	36 → 98	Partial alpha/beta-hydrolase lipase region	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the epidermis in the granular keratinocytes. Also detected in other tissues, although at much lower levels, including lung and spleen. {ECO:0000269|PubMed:17562024, ECO:0000269|PubMed:21439540}.
• Sequence:

  MMWLLLTTTCLICGTLNAGGFLDLENEVNPEVWMNTSEIIIYNGYPSEEYEVTTEDGYIL
  LVNRIPYGRTHARSTGPRPVVYMQHALFADNAYWLENYANGSLGFLLADAGYDVWMGNSR
  GNTWSRRHKTLSETDEKFWAFSFDEMAKYDLPGVIDFIVNKTGQEKLYFIGHSLGTTIGF
  VAFSTMPELAQRIKMNFALGPTISFKYPTGIFTRFFLLPNSIIKAVFGTKGFFLEDKKTK
  IASTKICNNKILWLICSEFMSLWAGSNKKNMNQSRMDVYMSHAPTGSSVHNILHIKQLYH
  SDEFRAYDWGNDADNMKHYNQSHPPIYDLTAMKVPTAIWAGGHDVLVTPQDVARILPQIK
  SLHYFKLLPDWNHFDFVWGLDAPQRMYSEIIALMKAYS

• Sequence length: 398

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs61854004, rs34593176	RCV005918074 RCV005921763
Autosomal recessive congenital ichthyosis 8	Benign; Uncertain significance	rs430517, rs10788611, rs759880018	RCV001730886 RCV001730952 RCV000024083
Cervical cancer	Benign	rs61854004	RCV005918075
LIPN-related disorder	Benign; Likely benign	rs41284088, rs553091291, rs200069492, rs375269629	RCV003913571 RCV003926630 RCV003980974 RCV003923996
Lung cancer	Benign	rs61854004	RCV005918077
Thymoma	Benign	rs61854004	RCV005918076

Associations from Text Mining
Disease Name	Relationship Type	References
Diabetes Gestational	Associate	36698149
Lamellar ichthyosis type 3	Associate	21439540
Lung Diseases Interstitial	Associate	36979470
Primary Immunodeficiency Diseases	Associate	36979470
Scleroderma Systemic	Associate	36979470