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

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	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive congenital ichthyosis 8	Benign; Uncertain significance	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LAMELLAR ICHTHYOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPN-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	ORPHANET_DG	21439540		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36698149	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8	Ichthyosis with hypotrichosis	GENOMICS_ENGLAND_DG	21439540		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8	Ichthyosis with hypotrichosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8	Ichthyosis with hypotrichosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis	Lamellar ichthyosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	21439540	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	36979470	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	36979470	Associate	★☆☆☆☆ Found in Text Mining only