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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 56
  • EC 3.1.1.- 4
  • EC 3.1.1 56
  • 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 Metabolism and Lipoprotein metabolism. Gene Ontology (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.

Additional gene information for LIPN Gene

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

GeneHancer (GH) Regulatory Elements for LIPN Gene

Promoters and enhancers for LIPN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I088755 Enhancer 0.7 FANTOM5 553.6 -1.3 -1317 0.2 PKNOX1 IKZF1 ZBED1 JUNB ETV6 BATF IKZF2 RUNX3 LIPN KRT8P38 LIPK ENSG00000201548 LIPJ RNLS
GH10I088759 Enhancer 0.7 Ensembl ENCODE 30.5 +3.2 3211 2.3 POLR2A ZBTB11 MAX MYC GABPA LIPN LIPM LIPF LIPK RCBTB2P1
GH10I088792 Enhancer 1.2 FANTOM5 Ensembl ENCODE 17.4 +35.6 35565 0.8 CTCF MAX EBF1 RAD21 YY1 POLR2A HNF4G SMARCC2 RCOR1 RUNX3 LIPN ENSG00000201548 LIPJ RNLS ANKRD22 FAS RCBTB2P1 LIPM
GH10I088878 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.5 +127.0 126990 10.9 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 STAMBPL1 RPL11P3 KIF20B FAS ACTA2-AS1 ENSG00000201548 RNLS LIPJ LIPM LIPN
GH10I088707 Enhancer 0.9 Ensembl ENCODE 21.1 -49.3 -49331 1.1 JUN JUNB OSR2 SP1 MAFF GATA3 JUND PRDM6 ZNF366 STAT3 LIPK LIPN KRT8P38
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LIPN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LIPN gene promoter:

Genomic Locations for LIPN Gene

Genomic Locations for LIPN Gene
chr10:88,757,226-88,778,891
(GRCh38/hg38)
Size:
21,666 bases
Orientation:
Plus strand
chr10:90,521,163-90,537,999
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

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:0004465 lipoprotein lipase activity TAS --
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

No data available for Phenotypes From GWAS Catalog , 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
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for LIPN Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LIPN Gene

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:0070268 cornification TAS --
genes like me logo Genes that share ontologies with LIPN: view

No data available for 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

(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

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(2.4)

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 33 34
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia LIPN 33 34
  • 86.53 (n)
rat
(Rattus norvegicus)
Mammalia Lipn 33
  • 85.99 (n)
mouse
(Mus musculus)
Mammalia Lipn 33 16 34
  • 84.97 (n)
dog
(Canis familiaris)
Mammalia LIPN 33
  • 71.98 (n)
oppossum
(Monodelphis domestica)
Mammalia LIPN 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 46 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
OneToMany
-- 34
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Lip2 34
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lipl-3 34
  • 37 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGL1 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000061844 -- 88,758,889(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000071185 -- 88,770,540(+) G/T 3_prime_UTR_variant, intron_variant
rs1000123413 -- 88,770,318(+) T/C 3_prime_UTR_variant, intron_variant
rs1000266419 -- 88,775,938(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000335621 -- 88,782,319(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for 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 (American journal of human genetics 2011) 3 4 58
  2. Large-scale identification of human genes implicated in epidermal barrier function. (PMID: 17562024) Toulza E … Guerrin M (Genome biology 2007) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 4 58

Products for LIPN Gene

Sources for LIPN Gene

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