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LIPN (lipase family member N)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
643418
Gene nameGene Name - the full gene name approved by the HGNC.
Lipase family member N
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LIPN
SynonymsGene synonyms aliases
ARCI8, LI4, LIPL4, bA186O14.3
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.31
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs759880018 GA>- Pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region TAS
GO:0016042 Process Lipid catabolic process IEA
GO:0016788 Function Hydrolase activity, acting on ester bonds IEA
GO:0043231 Component Intracellular membrane-bounded organelle IBA 21873635
GO:0070268 Process Cornification TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence 
MMWLLLTTTCLICGTLNAGGFLDLENEVNPEVWMNTSEIIIYNGYPSEEYEVTTEDGYIL
LVNRIPYGRTHARSTGPRPVVYMQHALFADNAYWLENYANGSLGFLLADAGYDVWMGNSR
GNTWSRRHKTLSETDEKFWAFSFDEMAKYDLPGVIDFIVNKTGQEKLYFIGHSLGTTIGF
VAFSTMPELAQRIKMNFALGPTISFKYPTGIFTRFFLLPNSIIKAVFGTKGFFLEDKKTK
IASTKICNNKILWLICSEFMSLWAGSNKKNMNQSRMDVYMSHAPTGSSVHNILHIKQLYH
SDEFRAYDWGNDADNMKHYNQSHPPIYDLTAMKVPTAIWAGGHDVLVTPQDVARILPQIK
SLHYFKLLPDWNHFDFVWGLDAPQRMYSEIIALMKAYS
Sequence length 398
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Formation of the cornified envelope
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Hypotrichosis Hypotrichosis rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Ichthyosis Ichthyoses rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Ichthyosis with hypotrichosis ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 rs1114167426, rs1114167425, rs1114167424, rs762765702, rs530109812, rs774363396, rs760309815, rs140526640, rs1303127476 21439540
Lamellar ichthyosis Lamellar ichthyosis rs118203935, rs118203937, rs199422216, rs199422217, rs28940270, rs137853289, rs137853134, rs121918716, rs121918717, rs121918718, rs121918720, rs121918722, rs121918723, rs121918725, rs121918731, rs121918732, rs397514525, rs143473912, rs397514532, rs199766569, rs587779765, rs587776384, rs370031870, rs757520757, rs752509098, rs142634031, rs886041250, rs200491579, rs147149459, rs781006633, rs370356566, rs781053760, rs199503269, rs367699137, rs938583000, rs1554138062, rs771820315, rs760429286, rs781631629, rs760309815, rs779287673, rs1322979131, rs1296165092, rs118091316, rs369811073, rs1382435790, rs768098854, rs767352854, rs769229606, rs1567982673, rs761068277, rs538068583, rs543521135, rs1230140208, rs1311967606, rs1296095311, rs375688767
Unknown
Disease name Disease term dbSNP ID References
Congenital nonbullous ichthyosiform erythroderma Congenital Nonbullous Ichthyosiform Erythroderma 21439540
Dwarfism Dwarfism
Ectropion Ectropion
Exfoliative dermatitis Exfoliative dermatitis

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