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Aliases for LIPA Gene

Aliases for LIPA Gene

  • Lipase A, Lysosomal Acid Type 2 3 5
  • Sterol Esterase 2 3 4
  • Lipase A, Lysosomal Acid, Cholesterol Esterase 2 3
  • Acid Cholesteryl Ester Hydrolase 3 4
  • Lysosomal Acid Lipase 2 3
  • Cholesteryl Esterase 3 4
  • EC 4 56
  • LAL 3 4
  • Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase 3
  • Cholesterol Ester Hydrolase 3
  • Wolman Disease 2
  • Lipase A 4
  • EC 3.1.1 56
  • CESD 3

External Ids for LIPA Gene

Previous GeneCards Identifiers for LIPA Gene

  • GC10M089854
  • GC10M090194
  • GC10M091104
  • GC10M090637
  • GC10M090963
  • GC10M084607

Summaries for LIPA Gene

Entrez Gene Summary for LIPA Gene

  • This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

GeneCards Summary for LIPA Gene

LIPA (Lipase A, Lysosomal Acid Type) is a Protein Coding gene. Diseases associated with LIPA include Lysosomal Acid Lipase Deficiency and Cholesterol Ester Storage Disease. Among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Metabolism. Gene Ontology (GO) annotations related to this gene include lipase activity and sterol esterase activity. An important paralog of this gene is LIPM.

UniProtKB/Swiss-Prot for LIPA Gene

  • Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation.

Additional gene information for LIPA Gene

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

Genomics for LIPA Gene

GeneHancer (GH) Regulatory Elements for LIPA Gene

Promoters and enhancers for LIPA 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
GH10I089250 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 582.5 +163.1 163066 2.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF48 YY1 ETS1 GLIS2 LIPA IFIT2 GC10P089210 GC10M089235
GH10I089413 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 -0.3 -272 2.9 PKNOX1 FOXA2 SIN3A DMAP1 ZNF2 IRF4 ZNF48 YY1 GLIS2 KLF7 IFIT5 GC10P089413 LIPA KIF20B IFIT1B SLC16A12-AS1
GH10I089241 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 33.7 +172.1 172112 2.9 FOXA2 FEZF1 BATF IRF4 RARA ETS1 ETV6 IKZF2 RUNX3 RXRA LIPA ANKRD22 ENSG00000232110 IFIT1B CH25H IFIT3 IFIT5 IFIT2 GC10P089210 GC10M089235
GH10I089248 Enhancer 0.5 Ensembl 31.2 +165.5 165456 0.6 JUNB BATF RUNX3 PRDM1 LIPA IFIT2 GC10P089210 GC10M089235
GH10I089224 Enhancer 0.8 Ensembl ENCODE dbSUPER 18.6 +189.5 189490 0.9 CTCF MAX NR2F2 LIPA ACTA2-AS1 IFIT1B FAS GC10P089210 IFIT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LIPA on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for LIPA Gene

Genomic Locations for LIPA Gene
200,989 bases
Minus strand

Genomic View for LIPA Gene

Genes around LIPA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LIPA Gene

Proteins for LIPA Gene

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

    Protein Symbol:
    Recommended name:
    Lysosomal acid lipase/cholesteryl ester hydrolase
    Protein Accession:
    Secondary Accessions:
    • B2RBH5
    • D3DR29
    • Q16529
    • Q53H21
    • Q5T074
    • Q5T771
    • Q96EJ0

    Protein attributes for LIPA Gene

    399 amino acids
    Molecular mass:
    45419 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LIPA Gene


neXtProt entry for LIPA Gene

Selected DME Specific Peptides for LIPA Gene


Post-translational modifications for LIPA Gene

  • Ubiquitination at posLast=304304
  • Glycosylation at isoforms=36, isoforms=72, isoforms=2101, isoforms=2161, isoforms=2273, and isoforms=2321

Other Protein References for LIPA Gene

Domains & Families for LIPA Gene

Gene Families for LIPA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for LIPA Gene

GenScript: Design optimal peptide antigens:

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 LIPA: view

Function for LIPA Gene

Molecular function for LIPA Gene

GENATLAS Biochemistry:
lipase A,lysosomal,acid,hydrolyzing a wide variety of sterol esters
UniProtKB/Swiss-Prot CatalyticActivity:
A steryl ester + H(2)O = a sterol + a fatty acid.
UniProtKB/Swiss-Prot Function:
Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation.

Enzyme Numbers (IUBMB) for LIPA Gene

Phenotypes From GWAS Catalog for LIPA Gene

Gene Ontology (GO) - Molecular Function for LIPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004771 sterol esterase activity TAS --
GO:0016298 lipase activity IDA 1718995
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IEA --
genes like me logo Genes that share ontologies with LIPA: view
genes like me logo Genes that share phenotypes with LIPA: view

Human Phenotype Ontology for LIPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LIPA Gene

MGI Knock Outs for LIPA:

Animal Model Products

miRNA for LIPA Gene

miRTarBase miRNAs that target LIPA

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for LIPA Gene

Localization for LIPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIPA 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 LIPA gene
Compartment Confidence
extracellular 5
lysosome 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LIPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005764 lysosome TAS 1718995
GO:0043202 lysosomal lumen TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with LIPA: view

Pathways & Interactions for LIPA Gene

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

Gene Ontology (GO) - Biological Process for LIPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0001816 cytokine production IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006954 inflammatory response IEA --
GO:0008283 cell proliferation IEA --
genes like me logo Genes that share ontologies with LIPA: view

No data available for SIGNOR curated interactions for LIPA Gene

Drugs & Compounds for LIPA Gene

(16) Drugs for LIPA Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Approved, Experimental, Investigational Pharma Agonist 0
Benzoic Acid Approved, Investigational Pharma 8
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
CE(18:2(9Z,12Z)) Experimental Pharma 0

(45) Additional Compounds for LIPA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 3b-(Decanoyloxy)-5-cholestene
  • 5-Cholesten-3b-ol caprate
  • Cholest-5-en-3b-ol caprate
  • Cholesterol 3-decanoate
  • Cholesterol 3-decanoic acid
  • (3beta)-Cholest-5-en-3-ol dodecanoate
  • (3beta)-Cholest-5-en-3-ol dodecanoic acid
  • 12:0 Cholesterol ester
  • Cholest-5-en-3-beta-yl laurate
  • Cholest-5-en-3-yl laurate
  • 1-Myristoyl-cholesterol
  • 14:0 Cholesterol ester
  • CE(14:0)
  • CE(14:0/0:0)
  • Cholest-5-en-3-ol (3beta)-tetradecanoate
  • 1-Myristoleoyl-cholesterol
  • 14:1(9Z) Cholesterol ester
  • CE(14:1)
  • CE(14:1/0:0)
  • CE(14:1n5/0:0)
  • 1-Palmitoyl-cholesterol
  • 16:0 Cholesterol ester
  • Cholest-5-en-3-yl palmitate
  • Cholest-5-ene-3-beta-yl palmitate
  • Cholesterol 1-hexadecanoate
genes like me logo Genes that share compounds with LIPA: view

Transcripts for LIPA Gene

Unigene Clusters for LIPA Gene

Lipase A, lysosomal acid, cholesterol esterase:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP3: - - - - -
SP4: - -
SP5: - -
SP6: -

Relevant External Links for LIPA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LIPA Gene

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

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

This gene is overexpressed in Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for LIPA Gene

This gene is overexpressed in Spleen (24.1), Amniocyte (13.7), and Lavage (12.9).

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

NURSA nuclear receptor signaling pathways regulating expression of LIPA Gene:


SOURCE GeneReport for Unigene cluster for LIPA Gene:


Evidence on tissue expression from TISSUES for LIPA Gene

  • Blood(4.9)
  • Nervous system(4.8)
  • Liver(4.6)
  • Spleen(4.5)
  • Kidney(3.4)
  • Skin(2.9)
  • Lung(2.8)
  • Intestine(2.7)
  • Adrenal gland(2.5)
  • Lymph node(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • head
  • esophagus
  • heart
  • lung
  • abdominal wall
  • adrenal gland
  • duodenum
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • nail
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LIPA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LIPA Gene

Orthologs for LIPA Gene

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

Orthologs for LIPA Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LIPA 33 34
  • 99.75 (n)
(Bos Taurus)
Mammalia LIPA 33 34
  • 86.55 (n)
(Canis familiaris)
Mammalia LIPA 33 34
  • 81.44 (n)
(Rattus norvegicus)
Mammalia Lipa 33
  • 80.1 (n)
(Mus musculus)
Mammalia Lipa 33 16 34
  • 79.51 (n)
(Ornithorhynchus anatinus)
Mammalia LIPA 34
  • 73 (a)
(Monodelphis domestica)
Mammalia LIPA 34
  • 51 (a)
(Gallus gallus)
Aves LIPA 34 33
  • 71.62 (n)
(Anolis carolinensis)
Reptilia LIPA 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lipa 33
  • 66.67 (n)
(Danio rerio)
Actinopterygii lipf 33 34
  • 64.28 (n)
wufb73g06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10828 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001652 33
  • 47.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lip3 35
  • 38 (a)
CG8093 35
  • 38 (a)
CG6113 35
  • 37 (a)
CG5932 35
  • 33 (a)
CG6753 35
  • 33 (a)
CG7329 35
  • 33 (a)
CG2772 35
  • 33 (a)
CG18302 35
  • 32 (a)
CG3635 35
  • 32 (a)
mag 34
  • 32 (a)
Lip1 35
  • 31 (a)
CG11608 35
  • 30 (a)
CG17097 35
  • 30 (a)
CG11598 35
  • 29 (a)
CG18301 35
  • 29 (a)
CG18530 35
  • 29 (a)
CG11600 35
  • 28 (a)
(Caenorhabditis elegans)
Secernentea lipl-5 33
  • 51.93 (n)
ZK6.7b 35
  • 45 (a)
F54F3.3 35
  • 44 (a)
R11G11.14 35
  • 43 (a)
ZK6.7a 35
  • 43 (a)
Y57E12B.3 35
  • 42 (a)
F46B6.8 35
  • 41 (a)
F01G10.7 35
  • 39 (a)
K04A8.5 35
  • 38 (a)
Y50E8A.7 35
  • 32 (a)
lipl-6 34
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGL1 33 34 36
  • 47.01 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR206C 33
  • 44.08 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1672.09 33
  • 46 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02148 33
  • 44.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
Species where no ortholog for LIPA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for LIPA Gene

Gene Tree for LIPA (if available)
Gene Tree for LIPA (if available)

Paralogs for LIPA Gene

Paralogs for LIPA Gene

(6) SIMAP similar genes for LIPA Gene using alignment to 3 proteins:

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

Variants for LIPA Gene

Sequence variations from dbSNP and Humsavar for LIPA Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1033525334 uncertain-significance, Wolman disease 89,213,837(-) A/C 3_prime_UTR_variant
rs1051338 benign, not specified, Wolman disease 89,247,603(-) T/G coding_sequence_variant, intron_variant, missense_variant
rs1051339 benign, likely-benign, not specified, Wolman disease 89,247,582(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs1051471983 uncertain-significance, Wolman disease 89,214,024(-) G/A 3_prime_UTR_variant
rs1131706 benign, Wolman disease 89,213,919(-) A/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
nsv551858 CNV loss 21841781
nsv523061 CNV gain 19592680
nsv520796 CNV loss 19592680
nsv517170 CNV loss 19592680
nsv1038123 CNV loss 25217958
esv3377492 CNV duplication 20981092
esv2759775 CNV loss 17122850
dgv951n100 CNV loss 25217958
dgv273e212 CNV loss 25503493
dgv118n27 CNV loss 19166990

Variation tolerance for LIPA Gene

Residual Variation Intolerance Score: 52.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.06; 90.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LIPA Gene

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

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

Disorders for LIPA Gene

MalaCards: The human disease database

(6) MalaCards diseases for LIPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lysosomal acid lipase deficiency
  • cholesteryl ester storage disease; cesd
cholesterol ester storage disease
lipid storage disease
  • inborn lipid storage disorder
cryptogenic cirrhosis
  • cirrhosis, cryptogenic
splenic abscess
- elite association - COSMIC cancer census association via MalaCards
Search LIPA in MalaCards View complete list of genes associated with diseases


  • Cholesteryl ester storage disease (CESD) [MIM:278000]: A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. {ECO:0000269 PubMed:8146180, ECO:0000269 PubMed:9633819}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Wolman disease (WOD) [MIM:278000]: A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year. {ECO:0000269 PubMed:8146180}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for LIPA Gene

cholesteryl ester storage disease,Wolman disease (allelic mutations of LIPA)

Additional Disease Information for LIPA

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LIPA: view

Publications for LIPA Gene

  1. Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism. (PMID: 16730122) von Trotha KT … Kölsch H (Neuroscience letters 2006) 3 22 44 58
  2. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. (PMID: 9633819) Ries S … Schmitz G (Human mutation 1998) 3 4 22 58
  3. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. (PMID: 8725147) Du H … Grabowski GA (Journal of lipid research 1996) 3 4 22 58
  4. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. (PMID: 8146180) Anderson RA … Sando GN (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 58
  5. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. (PMID: 8112342) Ameis D … Greten H (European journal of biochemistry 1994) 3 4 22 58

Products for LIPA Gene

Sources for LIPA Gene

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