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Aliases for LIPN Gene

Aliases for LIPN Gene

  • Lipase Family Member N 2 3 5
  • Lipase-Like Abhydrolase Domain-Containing Protein 4 3 4
  • LIPL4 3 4
  • Lipase-Like, Ab-Hydrolase Domain Containing 4 2
  • Lipase Member N 3
  • BA186O14.3 3
  • EC 3.1.1.3 61
  • EC 3.1.1.- 4
  • EC 3.1.1 61
  • 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 Congenital Ichthyosiform Erythroderma. Among its related pathways are Lipoprotein metabolism and Metabolism. 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 CIViC summary , 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

Enhancers for LIPN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G088759 0.8 Ensembl ENCODE 30.4 +3.2 3212 2.3 MAX MYC ZBTB40 GABPA LIPN LIPM LIPF LIPK RCBTB2P1
GH10G088792 1.3 FANTOM5 Ensembl ENCODE 17.4 +35.6 35565 0.8 HLF CEBPB MAX EP300 RAD21 YY1 JUND ATF3 CEBPA HNF4G LIPN ENSG00000201548 LIPJ RNLS ANKRD22 FAS LIPM RCBTB2P1
GH10G088707 1 Ensembl ENCODE 21.1 -49.3 -49331 1.1 JUN JUNB CHD7 OSR2 MAFF JUND PRDM6 GATA3 GATA2 ZNF366 LIPN LIPK KRT8P38
GH10G088702 0.8 ENCODE 20.5 -54.0 -54048 1.5 ELF3 TFAP4 FOXA2 SAP130 MLX TEAD4 MAX SIN3A CHD7 ZNF644 LIPN LIPK NAPGP1
GH10G088878 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.5 +127.0 126990 10.9 HDGF PKNOX1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 STAMBPL1 FAS ACTA2-AS1 RPL11P3 ENSG00000201548 RNLS LIPJ LIPM LIPN ANKRD22
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LIPN on UCSC Golden Path with GeneCards custom track

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

Genes around LIPN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIPN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for LIPN Gene

Q5VXI9:
  • EMAKYDLP
  • GNSRGNTW
  • TEDGYIL
  • LADAGYDVW

Post-translational modifications for LIPN Gene

Other Protein References for LIPN Gene

Domains & Families for LIPN Gene

Gene Families for LIPN Gene

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:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IEA --
genes like me logo Genes that share ontologies with LIPN: view

Phenotypes for LIPN Gene

MGI mutant phenotypes for LIPN:
inferred from 1 alleles
GenomeRNAi human phenotypes for LIPN:
genes like me logo Genes that share phenotypes with LIPN: view

Human Phenotype Ontology for LIPN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LIPN Gene

MGI Knock Outs for LIPN:
  • Lipn tm1.1(KOMP)Vlcg

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LIPN gene
Compartment Confidence
extracellular 5
lysosome 3
mitochondrion 2
plasma membrane 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for LIPN Gene

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

Pathways & Interactions for LIPN Gene

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

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 IEA --
GO:0016042 lipid catabolic process IEA --
GO:0044241 lipid digestion TAS --
genes like me logo Genes that share ontologies with LIPN: view

No data available for SIGNOR curated interactions for LIPN Gene

Transcripts for LIPN Gene

mRNA/cDNA for LIPN Gene

(7) 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for LIPN Gene

NURSA nuclear receptor signaling pathways regulating expression of LIPN Gene:

LIPN

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.

Evidence on tissue expression from TISSUES for LIPN Gene

  • Skin(4.5)
  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LIPN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
Organs:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • outer ear
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with LIPN: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia LIPN 34 35
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia LIPN 34 35
  • 86.53 (n)
rat
(Rattus norvegicus)
Mammalia Lipn 34
  • 85.99 (n)
mouse
(Mus musculus)
Mammalia Lipn 34 16 35
  • 84.97 (n)
dog
(Canis familiaris)
Mammalia LIPN 34
  • 71.98 (n)
oppossum
(Monodelphis domestica)
Mammalia LIPN 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 46 (a)
OneToMany
-- 35
  • 46 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 46 (a)
OneToMany
-- 35
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Lip2 35
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lipl-3 35
  • 37 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGL1 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
Species where no ortholog for LIPN was found in the sources mined by GeneCards:
  • 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
rs1000061844 -- 88,758,889(+) CAAGG(A/C)AACAA intron-variant
rs1000071185 -- 88,770,540(+) TATTT(G/T)ATACT intron-variant, utr-variant-3-prime
rs1000123413 -- 88,770,318(+) GACAG(C/T)ACTCG intron-variant, utr-variant-3-prime
rs1000266419 -- 88,775,938(+) ATTGG(C/T)CTGTT intron-variant
rs1000335621 -- 88,782,319(+) TCAAA(A/G)AGAAG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2179332 CNV deletion 18987734
esv3624139 CNV gain 21293372
nsv1043015 CNV gain 25217958
nsv1052613 CNV loss 25217958
nsv551840 CNV gain 21841781
nsv825502 CNV loss 20364138
nsv825503 CNV loss 20364138
nsv831941 CNV gain 17160897

Variation tolerance for LIPN Gene

Residual Variation Intolerance Score: 46.3% 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

Human Gene Mutation Database (HGMD)
LIPN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LIPN

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

Disorders for LIPN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ichthyosis, congenital, autosomal recessive 8
  • autosomal recessive congenital ichthyosis 8
congenital ichthyosiform erythroderma
  • alligator skin
lipn-related autosomal recessive congenital ichthyosis
  • ichthyosis, congenital, autosomal recessive 8
facial nerve disease
  • facial nerve diseases
facial paralysis
  • facial palsy
- elite association - COSMIC cancer census association via MalaCards
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) 3 4 64
  2. Large-scale identification of human genes implicated in epidermal barrier function. (PMID: 17562024) Toulza E. … Guerrin M. (Genome Biol. 2007) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 4 64
  4. Autosomal Recessive Congenital Ichthyosis (PMID: 20301593) Pagon R.A. … Stephens K. ( 1993) 3 64

Products for LIPN Gene

Sources for LIPN Gene

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