Aliases for LIPJ Gene

Aliases for LIPJ Gene

  • Lipase Family Member J 2 3 5
  • Lipase-Like Abhydrolase Domain-Containing Protein 1 3 4
  • Lipase-Like, Ab-Hydrolase Domain Containing 1 2 3
  • Lipase Member J 3 4
  • BA425M17.2 2 3
  • LIPL1 3 4
  • EC 51
  • EC 51
  • EC 3.1.1.- 4
  • Lipase J 3
  • EC 3.1.1 51
  • LIPJ 5

External Ids for LIPJ Gene

Previous HGNC Symbols for LIPJ Gene

  • LIPL1

Previous GeneCards Identifiers for LIPJ Gene

  • GC10P090337
  • GC10P083981

Summaries for LIPJ Gene

GeneCards Summary for LIPJ Gene

LIPJ (Lipase Family Member J) is a Protein Coding gene. Diseases associated with LIPJ include Lysosomal And Lipase Deficiency and Cholesterol Ester Storage Disease. 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 LIPK.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LIPJ Gene

Genomics for LIPJ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LIPJ Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J088582 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.2 -193 1.8 CTCF REST KDM1A POLR2A LARP7 ZNF143 SMAD5 RCOR1 TRIM22 GTF2F1 RNLS LIPJ MN296996 lnc-LIPJ-2 ACTA2-AS1 ACTA2 PTEN
GH10J088878 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 +300.9 300939 10.9 HNRNPL PRDM10 TFE3 KDM1A ZNF692 POLR2A BACH1 LARP7 PRDM1 ZNF776 STAMBPL1 KIF20B RPL11P3 FAS ACTA2-AS1 ENSG00000201548 RNLS LIPJ LIPM LIPN
GH10J088793 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 9.9 +210.0 209978 3.7 CTCF PRDM1 RAD21 TCF12 IKZF2 SP1 TRIM22 CEBPA CEBPB ARID3A RNLS LIPN LIPF ENSG00000201548 LIPJ ANKRD22 FAS piR-48369-021 RCBTB2P1 LIPM
GH10J088830 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10 +253.4 253423 12.2 CREB1 CTCF PRDM10 REST ZNF629 ZNF174 LARP7 STAT3 PRDM1 ZNF143 ANKRD22 STAMBPL1 FAS ACTA2-AS1 LIPM ENSG00000201548 LIPJ RNLS LIPF LIPN
GH10J087850 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.8 -732.5 -732476 1.2 CTCF FOXA1 PRDM1 REST RAD21 ZNF24 TRIM22 ZNF239 ZNF600 ZNF561 ENSG00000201548 LIPJ RNLS lnc-PTEN-4 lnc-PTEN-5 ATAD1 KLLN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LIPJ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LIPJ

Top Transcription factor binding sites by QIAGEN in the LIPJ gene promoter:
  • AREB6
  • c-Ets-1
  • FOXF2
  • HNF-1
  • HNF-1A
  • Ik-3
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha2

Genomic Locations for LIPJ Gene

Genomic Locations for LIPJ Gene
39,885 bases
Plus strand
20,224 bases
Plus strand

Genomic View for LIPJ Gene

Genes around LIPJ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIPJ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LIPJ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIPJ Gene

Proteins for LIPJ Gene

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

    Protein Symbol:
    Recommended name:
    Lipase member J
    Protein Accession:
    Secondary Accessions:
    • A8MT98
    • Q0P671

    Protein attributes for LIPJ Gene

    366 amino acids
    Molecular mass:
    42388 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LIPJ Gene

Selected DME Specific Peptides for LIPJ Gene


Post-translational modifications for LIPJ Gene

  • Glycosylation at Asn240
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for LIPJ Gene

Gene Families for LIPJ Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LIPJ Gene

  • Ab-hydrolase associated lipase region
  • Lipase, active site

Suggested Antigen Peptide Sequences for LIPJ Gene

GenScript: Design optimal peptide antigens:
  • Lipase-like abhydrolase domain-containing protein 1 (LIPJ_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

Function for LIPJ Gene

Enzyme Numbers (IUBMB) for LIPJ Gene

Phenotypes From GWAS Catalog for LIPJ Gene

Gene Ontology (GO) - Molecular Function for LIPJ 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 LIPJ: view
genes like me logo Genes that share phenotypes with LIPJ: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIPJ

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LIPJ Gene

Localization for LIPJ Gene

Subcellular locations from

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 LIPJ gene
Compartment Confidence
cytoskeleton 2
lysosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for LIPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with LIPJ: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for LIPJ Gene

Pathways & Interactions for LIPJ Gene

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

Interacting Proteins for LIPJ Gene

Gene Ontology (GO) - Biological Process for LIPJ Gene

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

No data available for SIGNOR curated interactions for LIPJ Gene

Drugs & Compounds for LIPJ Gene

(1) Drugs for LIPJ Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alpha,beta-Methyleneadenosine 5'-triphosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with LIPJ: view

Transcripts for LIPJ Gene

mRNA/cDNA for LIPJ Gene

3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIPJ

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

No ASD Table

Relevant External Links for LIPJ Gene

GeneLoc Exon Structure for

Expression for LIPJ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LIPJ Gene

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

This gene is overexpressed in Testis (x16.9).

Protein differential expression in normal tissues from HIPED for LIPJ Gene

This gene is overexpressed in Serum (69.0).

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

Protein tissue co-expression partners for LIPJ Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LIPJ

SOURCE GeneReport for Unigene cluster for LIPJ Gene:

genes like me logo Genes that share expression patterns with LIPJ: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LIPJ Gene

Orthologs for LIPJ Gene

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

Orthologs for LIPJ Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LIPJ 30 31
  • 99.18 (n)
(Bos Taurus)
Mammalia LIPJ 30 31
  • 87.67 (n)
(Canis familiaris)
Mammalia LIPJ 30 31
  • 82.74 (n)
(Monodelphis domestica)
Mammalia LIPJ 31
  • 54 (a)
(Mus musculus)
Mammalia Lipo4 31
  • 45 (a)
Lipo1 31
  • 44 (a)
Lipo2 31
  • 44 (a)
Gm8975 31
  • 42 (a)
Gm5097 31
  • 42 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 40 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31089 31
  • 30 (a)
(Caenorhabditis elegans)
Secernentea lipl-2 31
  • 36 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGL1 31
  • 20 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
Species where no ortholog for LIPJ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 LIPJ Gene

Gene Tree for LIPJ (if available)
Gene Tree for LIPJ (if available)
Evolutionary constrained regions (ECRs) for LIPJ: view image

Paralogs for LIPJ Gene

Paralogs for LIPJ Gene

(6) SIMAP similar genes for LIPJ Gene using alignment to 2 proteins:

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

Variants for LIPJ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LIPJ Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs1409136 - p.Ile210Val

Additional dbSNP identifiers (rs#s) for LIPJ Gene

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

Variant ID Type Subtype PubMed ID
esv3624131 CNV loss 21293372
esv3624132 CNV gain 21293372
esv3624134 CNV gain 21293372
esv3624135 CNV loss 21293372
nsv1037657 CNV loss 25217958
nsv551839 CNV loss 21841781

Variation tolerance for LIPJ Gene

Residual Variation Intolerance Score: 81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.07; 68.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LIPJ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for LIPJ Gene

MalaCards: The human disease database

(5) MalaCards diseases for LIPJ Gene - From: DISEASES

Disorder Aliases PubMed IDs
lysosomal and lipase deficiency
cholesterol ester storage disease
lysosomal acid lipase deficiency
  • cholesteryl ester storage disease; cesd
mixed sleep apnea
  • complex sleep apnea
  • fusarium infection
- elite association - COSMIC cancer census association via MalaCards
Search LIPJ in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with LIPJ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LIPJ Gene

Publications for LIPJ Gene

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for LIPJ Gene

Sources for LIPJ Gene