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
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(15)
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
congenital ichthyosis Autosomal recessive congenital ichthyosis 8 N/A N/A ClinVar
Congenital Ichthyosis autosomal recessive congenital ichthyosis 8 N/A N/A GenCC
Lamellar ichthyosis lamellar ichthyosis N/A N/A GenCC
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
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