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 name Gene Name - the full gene name approved by the HGNC.
Lipase family member N
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LIPN
Synonyms (NCBI Gene) Gene synonyms aliases
ARCI8, LI4, LIPL4, bA186O14.3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ARCI8
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q23.31
Summary Summary 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]
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
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
Show/Hide all(5)
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 IDs Other 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
613924 23452 ENSG00000204020
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
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Hypotrichosis Hypotrichosis rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819
View all (18 more)
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
View all (42 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Otitis media Chronic otitis media ClinVar
Congenital Ichthyosis autosomal recessive congenital ichthyosis 8 GenCC
Show/Hide Text Mining Associations (5)
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