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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 3.1.1.13 4 61
  • LAL 3 4
  • Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase 3
  • Cholesterol Ester Hydrolase 3
  • Wolman Disease 2
  • Lipase A 4
  • EC 3.1.1 61
  • 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 Wolman Disease and Cholesterol Ester Storage Disease. Among its related pathways are Metabolism and Lysosome. 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

Enhancers for LIPA 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
GH10F089241 1.3 FANTOM5 Ensembl ENCODE 33.6 +171.9 171856 3.4 USF1 SAP130 TAL1 ZNF384 CEBPG FEZF1 EBF1 ZIC2 ETS1 RARA LIPA ANKRD22 ENSG00000232110 IFIT1B CH25H IFIT3 IFIT5 IFIT2 GC10P089210
GH10F089250 0.2 ENCODE 32.5 +163.1 163066 2.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF48 ZNF2 YY1 GLIS2 ZNF143 LIPA IFIT2 GC10P089210
GH10F089245 0.2 Ensembl 31 +168.6 168557 0.8 BCOR CTCF ATF1 ZNF280D CHD4 ZMYM3 TBX21 RAD51 KLF16 TARDBP LIPA ENSG00000232110 IFIT1B FAS GC10P089210 IFIT2
GH10F089224 0.9 Ensembl ENCODE 18.6 +189.5 189491 0.9 SCRT1 CTCF SCRT2 MAX RAD21 NR2F2 LIPA ACTA2-AS1 IFIT1B FAS GC10P089210 IFIT2
GH10F089368 0.8 Ensembl ENCODE 10.6 +45.2 45157 1.2 CTCF ZNF654 SMC3 TRIM22 RAD21 IFIT5 IFIT1 IFIT3 ENSG00000232110 IFIT2 LIPA IFIT1B IFIT6P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around LIPA on UCSC Golden Path with GeneCards custom track

Genomic Location for LIPA Gene

Chromosome:
10
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

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:
    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

Selected DME Specific Peptides for LIPA Gene

P38571:
  • EMAKYDLP
  • GNSRGNTW
  • WSRKHKTLS
  • VQNMLHW
  • LHWSQAV
  • TEDGYIL
  • TIGFIAFS
  • KNYFHYNQS
  • FILADAG
  • YVGHSQGTTIGFI

Post-translational modifications for LIPA Gene

  • Ubiquitination at Lys 304
  • Glycosylation at Asn 36, Asn 72, Asn 101, Asn 161, Asn 273, and Asn 321
  • Modification sites at PhosphoSitePlus

Other Protein References for LIPA Gene

Domains & Families for LIPA Gene

Gene Families 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 :
  • Contains 1 AB hydrolase-1 (Alpha/Beta hydrolase fold 1) domain.
  • Belongs to the AB hydrolase superfamily. Lipase family.
Domain:
  • Contains 1 AB hydrolase-1 (Alpha/Beta hydrolase fold 1) domain.
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

Gene Ontology (GO) - Molecular Function for LIPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004771 sterol esterase activity IEA,IDA 1718995
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

Inhibitory RNA Products

Flow Cytometry 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

Lysosome.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for LIPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,TAS --
GO:0070062 extracellular exosome 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Benzoic Acid Approved Pharma 7
Carbon dioxide Approved, Vet_approved Pharma 0
Water Approved Pharma 0
cholesterol Experimental Pharma Agonist 0
Ecgonine methyl ester Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(10:0)
  • 3b-(Decanoyloxy)-5-cholestene
  • 5-Cholesten-3b-ol caprate
  • Cholest-5-en-3b-ol caprate
  • Cholesterol 3-decanoate
  • Cholesterol 3-decanoic acid
1183-04-6
CE(12:0)
  • (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
1908-11-8
CE(14:0)
  • 1-Myristoyl-cholesterol
  • 14:0 Cholesterol ester
  • CE(14:0)
  • CE(14:0/0:0)
  • Cholest-5-en-3-ol (3beta)-tetradecanoate
1989-52-2
CE(14:1(9Z))
  • 1-Myristoleoyl-cholesterol
  • 14:1(9Z) Cholesterol ester
  • CE(14:1)
  • CE(14:1/0:0)
  • CE(14:1n5/0:0)
CE(16:0)
  • 1-Palmitoyl-cholesterol
  • 16:0 Cholesterol ester
  • Cholest-5-en-3-yl palmitate
  • Cholest-5-ene-3-beta-yl palmitate
  • Cholesterol 1-hexadecanoate
601-34-3
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:

Inhibitory RNA Products

Flow Cytometry 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: -
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 from GTEx, Illumina, BioGPS, and 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:

LIPA

SOURCE GeneReport for Unigene cluster for LIPA Gene:

Hs.643030
genes like me logo Genes that share expression patterns with LIPA: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia LIPA 34 35
  • 99.75 (n)
cow
(Bos Taurus)
Mammalia LIPA 34 35
  • 86.55 (n)
dog
(Canis familiaris)
Mammalia LIPA 34 35
  • 81.44 (n)
rat
(Rattus norvegicus)
Mammalia Lipa 34
  • 80.1 (n)
mouse
(Mus musculus)
Mammalia Lipa 34 16 35
  • 79.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LIPA 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LIPA 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves LIPA 34 35
  • 71.62 (n)
lizard
(Anolis carolinensis)
Reptilia LIPA 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lipa 34
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii lipf 34 35
  • 64.28 (n)
wufb73g06 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10828 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001652 34
  • 47.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8093 36
  • 38 (a)
Lip3 36
  • 38 (a)
CG6113 36
  • 37 (a)
CG2772 36
  • 33 (a)
CG5932 36
  • 33 (a)
CG6753 36
  • 33 (a)
CG7329 36
  • 33 (a)
CG18302 36
  • 32 (a)
CG3635 36
  • 32 (a)
mag 35
  • 32 (a)
ManyToMany
Lip1 36
  • 31 (a)
CG11608 36
  • 30 (a)
CG17097 36
  • 30 (a)
CG11598 36
  • 29 (a)
CG18301 36
  • 29 (a)
CG18530 36
  • 29 (a)
CG11600 36
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea lipl-5 34
  • 51.93 (n)
ZK6.7b 36
  • 45 (a)
F54F3.3 36
  • 44 (a)
R11G11.14 36
  • 43 (a)
ZK6.7a 36
  • 43 (a)
Y57E12B.3 36
  • 42 (a)
F46B6.8 36
  • 41 (a)
F01G10.7 36
  • 39 (a)
K04A8.5 36
  • 38 (a)
Y50E8A.7 36
  • 32 (a)
lipl-6 35
  • 29 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGL1 34 35 37
  • 47.01 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR206C 34
  • 44.08 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1672.09 34
  • 46 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02148 34
  • 44.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
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

ENSEMBL:
Gene Tree for LIPA (if available)
TreeFam:
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 Sequence Context AA Info Type
rs121965086 Cholesteryl ester storage disease (CESD) [MIM:278000], Wolman disease (WOD) [MIM:278000], Pathogenic 89,225,168(-) TGCCC(C/T)GGGTC reference, missense
VAR_004248 Cholesteryl ester storage disease (CESD) [MIM:278000]
VAR_004249 Cholesteryl ester storage disease (CESD) [MIM:278000]
rs116928232 Pathogenic 89,222,511(+) CCTAC(C/T)TGGCT reference, synonymous-codon
rs121965087 Pathogenic 89,245,776(-) TCTTA(C/G)TGGGG intron-variant, reference, stop-gained

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

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

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)

Relevant External Links for LIPA Gene

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

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wolman disease
  • cholesteryl ester storage disease
cholesterol ester storage disease
  • cholesteryl ester storage disease
lipid storage disease
  • inborn lipid storage disorder
splenic abscess
major depressive disorder and accelerated response to antidepressant drug treatment
  • unipolar depression
- elite association - COSMIC cancer census association via MalaCards
Search LIPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LICH_HUMAN
  • 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)

Relevant External Links for LIPA

Genetic Association Database (GAD)
LIPA
Human Genome Epidemiology (HuGE) Navigator
LIPA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LIPA
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 K.T. … KAPlsch H. (Neurosci. Lett. 2006) 3 22 46 64
  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. (Hum. Mutat. 1998) 3 4 22 64
  3. 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 22 64
  4. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. (PMID: 8112342) Ameis D. … Greten H. (Eur. J. Biochem. 1994) 3 4 22 64
  5. 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 22 64

Products for LIPA Gene

Sources for LIPA Gene

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