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Aliases for LIPA Gene

Aliases for LIPA Gene

  • Lipase A, Lysosomal Acid, Cholesterol Esterase 2 3
  • Acid Cholesteryl Ester Hydrolase 3 4
  • Cholesteryl Esterase 3 4
  • Sterol Esterase 3 4
  • EC 3.1.1.13 4 63
  • CESD 3 6
  • LAL 3 4
  • Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase 3
  • Cholesterol Ester Hydrolase 3
  • Lysosomal Acid Lipase 3
  • Wolman Disease 2
  • Lipase A 4
  • EC 3.1.1 63

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, Cholesterol Esterase) is a Protein Coding gene. Diseases associated with LIPA include wolman disease and cholesterol ester storage disease. Among its related pathways are Lysosome and superpathway of cholesterol biosynthesis. 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

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

Genomics for LIPA Gene

Regulatory Elements for LIPA Gene

Genomic Location for LIPA Gene

Start:
89,213,569 bp from pter
End:
89,414,557 bp from pter
Size:
200,989 bases
Orientation:
Minus strand

Genomic View for LIPA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P38571-LICH_HUMAN
    Recommended name:
    Lysosomal acid lipase/cholesteryl ester hydrolase
    Protein Accession:
    P38571
    Secondary Accessions:
    • B2RBH5
    • D3DR29
    • Q16529
    • Q53H21
    • Q5T074
    • Q5T771
    • Q96EJ0

    Protein attributes for LIPA Gene

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

    Alternative splice isoforms for LIPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LIPA Gene

Proteomics data for LIPA Gene at MOPED

Post-translational modifications for LIPA Gene

  • Ubiquitination at Lys304
  • Glycosylation at Asn36, Asn72, Asn101, Asn161, Asn273, and Asn321
  • Modification sites at PhosphoSitePlus

Other Protein References for LIPA Gene

Domains for LIPA Gene

Suggested Antigen Peptide Sequences for LIPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P38571

UniProtKB/Swiss-Prot:

LICH_HUMAN :
  • P38571
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with LIPA: view

No data available for Gene Families for LIPA Gene

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

Gene Ontology (GO) - Molecular Function for LIPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004771 sterol esterase activity IDA 1718995
GO:0016298 lipase activity IDA 1718995
genes like me logo Genes that share ontologies with LIPA: view
genes like me logo Genes that share phenotypes with LIPA: view

Animal Models for LIPA Gene

MGI Knock Outs for LIPA:

miRNA for LIPA Gene

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

Localization for LIPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIPA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LIPA Gene COMPARTMENTS Subcellular localization image for LIPA gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 2

Gene Ontology (GO) - Cellular Components for LIPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with LIPA: view

Pathways for LIPA Gene

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

Pathways by source for LIPA Gene

1 BioSystems pathway for LIPA Gene
2 KEGG pathways for LIPA Gene

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 --
GO:0006954 inflammatory response IEA --
GO:0008283 cell proliferation IEA --
genes like me logo Genes that share ontologies with LIPA: view

Compounds for LIPA Gene

(195) HMDB Compounds for LIPA Gene

Compound Synonyms Cas Number PubMed IDs
Benzoic acid
  • Benzenecarboxylate
65-85-0
Carbon dioxide
  • Carbon oxide
124-38-9
CE(10:0)
  • Decanoic acid cholesteryl ester
1183-04-6
CE(12:0)
  • cholest-5-en-3beta-yl dodecanoate
1908-11-8
CE(14:0)
  • 14:0 Cholesterol ester
1989-52-2

(20) Novoseek inferred chemical compound relationships for LIPA Gene

Compound -log(P) Hits PubMed IDs
cholesteryl oleate 87.4 3
cholesterol ester 86.5 19
cholesterol 57.1 18
lipid 55.6 23
triacylglycerol 39.3 6
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:

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: -
SP2:
SP3: - - - - -
SP4: - -
SP5: - -
SP6: -

Relevant External Links for LIPA Gene

GeneLoc Exon Structure for
LIPA
ECgene alternative splicing isoforms for
LIPA

Expression for LIPA Gene

mRNA expression in normal human tissues for LIPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Spleen (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LIPA Gene

SOURCE GeneReport for Unigene cluster for LIPA Gene Hs.643030

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

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia LIPA 35
  • 99.75 (n)
  • 100 (a)
LIPA 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LIPA 35
  • 86.55 (n)
  • 81.95 (a)
LIPA 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIPA 35
  • 81.44 (n)
  • 78.59 (a)
LIPA 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lipa 35
  • 79.51 (n)
  • 74.31 (a)
Lipa 16
Lipa 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LIPA 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LIPA 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lipa 35
  • 80.1 (n)
  • 75.82 (a)
chicken
(Gallus gallus)
Aves LIPA 35
  • 71.62 (n)
  • 73.24 (a)
LIPA 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LIPA 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lipa 35
  • 66.67 (n)
  • 68.53 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10828 35
zebrafish
(Danio rerio)
Actinopterygii lipf 35
  • 64.28 (n)
  • 63.68 (a)
lipf 36
  • 62 (a)
OneToOne
wufb73g06 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001652 35
  • 47.37 (n)
  • 39.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta mag 36
  • 32 (a)
ManyToMany
CG18302 37
  • 32 (a)
Lip3 37
  • 38 (a)
Lip1 37
  • 31 (a)
CG5932 37
  • 33 (a)
CG11598 37
  • 29 (a)
CG6113 37
  • 37 (a)
CG18301 37
  • 29 (a)
CG3635 37
  • 32 (a)
CG8093 37
  • 38 (a)
CG2772 37
  • 33 (a)
CG7329 37
  • 33 (a)
CG11600 37
  • 28 (a)
CG6753 37
  • 33 (a)
CG11608 37
  • 30 (a)
CG18530 37
  • 29 (a)
CG17097 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea lipl-5 35
  • 51.93 (n)
  • 47.51 (a)
lipl-6 36
  • 29 (a)
ManyToMany
F46B6.8 37
  • 41 (a)
F54F3.3 37
  • 44 (a)
ZK6.7a 37
  • 43 (a)
F01G10.7 37
  • 39 (a)
R11G11.14 37
  • 43 (a)
K04A8.5 37
  • 38 (a)
ZK6.7b 37
  • 45 (a)
Y57E12B.3 37
  • 42 (a)
Y50E8A.7 37
  • 32 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR206C 35
  • 44.08 (n)
  • 34.32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGL1 35
  • 47.01 (n)
  • 37.72 (a)
TGL1 36
  • 22 (a)
OneToMany
TGL1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU02148 35
  • 44.3 (n)
  • 31.82 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1672.09 35
  • 46 (n)
  • 35.87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for LIPA:
  • 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

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

Paralogs for LIPA Gene

Paralogs for LIPA Gene

Selected 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 Sequence Context AA Info Type MAF
rs13500 -- 89,213,735(-) CTGTC(C/T)GGTGG utr-variant-3-prime, nc-transcript-variant
rs869820 -- 89,242,217(-) AGCAA(C/T)GCTTT intron-variant
rs885561 -- 89,232,347(+) TAAGG(C/T)GACTT intron-variant
rs914606 -- 89,229,974(+) GCTGA(A/G)TAAAA intron-variant
rs928415 -- 89,246,557(+) ATCAG(A/G)TCATA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv317e1 CNV Complex 17122850
nsv517170 CNV Loss 19592680
dgv118n27 CNV Loss 19166990
nsv523061 CNV Gain 19592680
nsv895882 CNV Loss 21882294
nsv520796 CNV Loss 19592680

Relevant External Links for LIPA Gene

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

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

Disorders for LIPA Gene

(1) OMIM Diseases for LIPA Gene (613497)

UniProtKB/Swiss-Prot

LICH_HUMAN
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(2) University of Copenhagen DISEASES for LIPA Gene

(14) Novoseek inferred disease relationships for LIPA Gene

Disease -log(P) Hits PubMed IDs
cholesteryl ester storage disease 98.7 45
wolman disease 98.5 38
hepatomegaly 67.7 3
lysosomal storage diseases 61.7 2
hyperlipidemia 39.9 5

Genatlas disease for LIPA Gene

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

Relevant External Links for LIPA

Genetic Association Database (GAD)
LIPA
Human Genome Epidemiology (HuGE) Navigator
LIPA
genes like me logo Genes that share disorders with LIPA: view

Publications for LIPA Gene

  1. Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases. (PMID: 1718995) Anderson R.A. … Sando G.N. (J. Biol. Chem. 1991) 3 4 23
  2. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. (PMID: 8112342) Ameis D. … Greten H. (Eur. J. Biochem. 1994) 3 4 23
  3. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. (PMID: 8146180) Anderson R.A. … Sando G.N. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4 23
  4. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. (PMID: 8725147) Du H. … Grabowski G.A. (J. Lipid Res. 1996) 3 4 23
  5. In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3. (PMID: 8432549) Anderson R.A. … Pettenati M. (Genomics 1993) 2 3 23

Products for LIPA Gene

Sources for LIPA Gene

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