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Aliases for LIPN Gene

Aliases for LIPN Gene

  • Lipase, Family Member N 2 3
  • Lipase-Like Abhydrolase Domain-Containing Protein 4 3 4
  • LIPL4 3 4
  • Lipase-Like, Ab-Hydrolase Domain Containing 4 2
  • BA186O14.3 3
  • EC 3.1.1.3 63
  • EC 3.1.1.- 4
  • EC 3.1.1 63
  • ARCI8 3
  • LI4 3

External Ids for LIPN Gene

Previous HGNC Symbols for LIPN Gene

  • LIPL4

Previous GeneCards Identifiers for LIPN Gene

  • GC10P090508
  • GC10P084155

Summaries for LIPN Gene

Entrez Gene Summary for LIPN 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]

GeneCards Summary for LIPN Gene

LIPN (Lipase, Family Member N) is a Protein Coding gene. Diseases associated with LIPN include ichthyosis, congenital, autosomal recessive 8 and facial nerve disease. GO annotations related to this gene include hydrolase activity, acting on ester bonds. An important paralog of this gene is LIPA.

UniProtKB/Swiss-Prot for LIPN Gene

  • Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIPN Gene

Genomics for LIPN Gene

Regulatory Elements for LIPN Gene

Genomic Location for LIPN Gene

Chromosome:
10
Start:
88,757,226 bp from pter
End:
88,778,891 bp from pter
Size:
21,666 bases
Orientation:
Plus strand

Genomic View for LIPN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LIPN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIPN Gene

Proteins for LIPN Gene

  • Protein details for LIPN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VXI9-LIPN_HUMAN
    Recommended name:
    Lipase member N
    Protein Accession:
    Q5VXI9
    Secondary Accessions:
    • A7KIH9

    Protein attributes for LIPN Gene

    Size:
    398 amino acids
    Molecular mass:
    45534 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LIPN Gene

Proteomics data for LIPN Gene at MOPED

Selected DME Specific Peptides for LIPN Gene

Post-translational modifications for LIPN Gene

Other Protein References for LIPN Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for LIPN Gene

Gene Families for LIPN Gene

HGNC:

Protein Domains for LIPN Gene

Suggested Antigen Peptide Sequences for LIPN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VXI9

UniProtKB/Swiss-Prot:

LIPN_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with LIPN: view

Function for LIPN Gene

Molecular function for LIPN Gene

UniProtKB/Swiss-Prot Function:
Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.

Enzyme Numbers (IUBMB) for LIPN Gene

Gene Ontology (GO) - Molecular Function for LIPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016788 hydrolase activity, acting on ester bonds IEA --
genes like me logo Genes that share ontologies with LIPN: view

Phenotypes for LIPN Gene

GenomeRNAi human phenotypes for LIPN:
genes like me logo Genes that share phenotypes with LIPN: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LIPN

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LIPN Gene

Localization for LIPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIPN Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LIPN Gene COMPARTMENTS Subcellular localization image for LIPN gene
Compartment Confidence
extracellular 3

Gene Ontology (GO) - Cellular Components for LIPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with LIPN: view

Pathways & Interactions for LIPN Gene

SuperPathways for LIPN Gene

No Data Available

Interacting Proteins for LIPN Gene

Gene Ontology (GO) - Biological Process for LIPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with LIPN: view

No data available for Pathways by source and SIGNOR curated interactions for LIPN Gene

Drugs & Compounds for LIPN Gene

No Compound Related Data Available

Transcripts for LIPN Gene

mRNA/cDNA for LIPN Gene

(6) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LIPN Gene

Lipase, family member N:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LIPN

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LIPN Gene

No ASD Table

Relevant External Links for LIPN Gene

GeneLoc Exon Structure for
LIPN
ECgene alternative splicing isoforms for
LIPN

Expression for LIPN Gene

mRNA expression in normal human tissues for LIPN Gene

mRNA differential expression in normal tissues according to GTEx for LIPN Gene

This gene is overexpressed in Whole Blood (x27.7), Skin - Not Sun Exposed (Suprapubic) (x9.8), and Skin - Sun Exposed (Lower leg) (x8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LIPN Gene



SOURCE GeneReport for Unigene cluster for LIPN Gene Hs.632091

mRNA Expression by UniProt/SwissProt for LIPN Gene

Q5VXI9-LIPN_HUMAN
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.
genes like me logo Genes that share expression patterns with LIPN: view

Protein tissue co-expression partners for LIPN Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues for LIPN Gene

Orthologs for LIPN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LIPN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LIPN 35
  • 86.53 (n)
  • 81.57 (a)
LIPN 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIPN 35
  • 71.98 (n)
  • 70.38 (a)
mouse
(Mus musculus)
Mammalia Lipn 35
  • 84.97 (n)
  • 82.12 (a)
Lipn 16
Lipn 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LIPN 35
  • 99.25 (n)
  • 98.74 (a)
LIPN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lipn 35
  • 85.99 (n)
  • 82.53 (a)
oppossum
(Monodelphis domestica)
Mammalia LIPN 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 46 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 46 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Lip2 36
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lipl-3 36
  • 37 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGL1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for LIPN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for LIPN Gene

ENSEMBL:
Gene Tree for LIPN (if available)
TreeFam:
Gene Tree for LIPN (if available)

Paralogs for LIPN Gene

Paralogs for LIPN Gene

(6) SIMAP similar genes for LIPN Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LIPN: view

Variants for LIPN Gene

Sequence variations from dbSNP and Humsavar for LIPN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs188571 -- 88,763,082(-) ATGAC(C/T)TCAGC intron-variant
rs303453 -- 88,755,284(-) gttac(A/G)ctcaa upstream-variant-2KB
rs303454 -- 88,756,401(-) GTATT(C/T)TTTCA upstream-variant-2KB
rs303455 -- 88,756,727(-) AGTAC(A/G)TAGTA upstream-variant-2KB
rs303456 -- 88,756,853(-) TTTGC(G/T)GACTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LIPN Gene

Variant ID Type Subtype PubMed ID
nsv831941 CNV Gain 17160897
nsv825502 CNV Loss 20364138
nsv825503 CNV Loss 20364138
esv2179332 CNV Deletion 18987734

Variation tolerance for LIPN Gene

Residual Variation Intolerance Score: 46.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.21; 62.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LIPN Gene

HapMap Linkage Disequilibrium report
LIPN
Human Gene Mutation Database (HGMD)
LIPN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIPN Gene

Disorders for LIPN Gene

MalaCards: The human disease database

(13) MalaCards diseases for LIPN Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis, congenital, autosomal recessive 8
  • lamellar ichthyosis 4
facial nerve disease
  • facial nerve diseases
premenstrual tension
  • premenstrual syndrome
brain stem infarction
  • brainstem infarction
facial paralysis
  • facial palsy
- elite association
Search LIPN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LIPN_HUMAN
  • Ichthyosis, congenital, autosomal recessive 8 (ARCI8) [MIM:613943]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:21439540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LIPN

Genetic Association Database (GAD)
LIPN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LIPN
genes like me logo Genes that share disorders with LIPN: view

No data available for Genatlas for LIPN Gene

Publications for LIPN Gene

  1. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. (PMID: 21439540) Israeli S. … Sprecher E. (Am. J. Hum. Genet. 2011) 67
  2. Large-scale identification of human genes implicated in epidermal barrier function. (PMID: 17562024) Toulza E. … Guerrin M. (Genome Biol. 2007) 67
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 67
  4. Autosomal Recessive Congenital Ichthyosis (PMID: 20301593) Pagon R.A. … Stephens K. ( 1993) 67

Products for LIPN Gene

Sources for LIPN Gene

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