LIPA Gene (Protein Coding)

Lipase A, Lysosomal Acid Type

GC10M089213
GIFtS:
47
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 b... See more...

Aliases for LIPA Gene

Aliases for LIPA Gene

  • Lipase A, Lysosomal Acid Type 2 3 5
  • Sterol Esterase 2 3 4
  • LAL 2 3 4
  • Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase 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 51
  • CESD 2 3
  • Cholesterol Ester Hydrolase 3
  • Wolman Disease 2
  • Lipase A 4
  • EC 3.1.1 51
  • LIPA 5

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 Lipoprotein metabolism and Lysosome. 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 Summary for LIPA Gene

  • Catalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol.

Additional gene information for LIPA Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LIPA Gene

Genomics for LIPA Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LIPA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the LIPA gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for LIPA Gene

Genomic Locations for LIPA Gene
chr10:89,213,569-89,414,557
(GRCh38/hg38)
Size:
200,989 bases
Orientation:
Minus strand
chr10:90,973,326-91,174,314
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for LIPA Gene

Proteins for LIPA Gene

Products:

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  3. Assay

  • 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:
    • Monomer.

    Alternative splice isoforms for LIPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LIPA Gene

Protein Expression for LIPA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for LIPA Gene

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

Post-translational modifications for LIPA Gene

  • Glycosylation is not essential for catalytic activity.
  • Glycosylation at Asn36, Asn101, Asn72, Asn161, Asn273, and Asn321
  • Ubiquitination at Lys304
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for LIPA Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for LIPA Gene

Gene Families for LIPA Gene

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

Protein Domains for LIPA Gene

InterPro:
Blocks:
  • Alpha/beta hydrolase fold
  • Ab-hydrolase associated lipase region
  • Lipase, active site
ProtoNet:

Suggested Antigen Peptide Sequences for LIPA Gene

GenScript: Design optimal peptide antigens:
  • Sterol esterase (LICH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P38571

UniProtKB/Swiss-Prot:

LICH_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 LIPA: view

Function for LIPA Gene

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Molecular function for LIPA Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a sterol ester + H2O = a fatty acid + a sterol + H(+); Xref=Rhea:RHEA:10100, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15889, ChEBI:CHEBI:28868, ChEBI:CHEBI:35915; EC=3.1.1.13; Evidence={ECO:0000269|PubMed:15269241, ECO:0000269|PubMed:7204383, ECO:0000269|PubMed:8112342};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesteryl (9Z-octadecenoate) + H2O = (9Z)-octadecenoate + cholesterol + H(+); Xref=Rhea:RHEA:33875, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:30823, ChEBI:CHEBI:46898; Evidence={ECO:0000269|PubMed:1718995, ECO:0000269|PubMed:9633819};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.142 mM for cholesteryl oleate {ECO:0000269|PubMed:8112342}; KM=0.8 mM for cholesteryl oleate {ECO:0000269|PubMed:7204383}; KM=0.138 mM for trioleoylglycerol {ECO:0000269|PubMed:8112342}; KM=0.8 mM for trioleoylglycerol {ECO:0000269|PubMed:7204383}; KM=899 uM for trioleoylglycerol {ECO:0000269|PubMed:15269241}; KM=0.9 mM for 1,2-dioleoylglycerol {ECO:0000269|PubMed:7204383}; KM=1.2 mM for 1,3-dioleoylglycerol {ECO:0000269|PubMed:7204383}; Vmax=4390 nmol/min/mg enzyme with cholesteryl oleate as substrate {ECO:0000269|PubMed:8112342}; Vmax=1400 nmol/min/mg enzyme with cholesteryl oleate as substrate {ECO:0000269|PubMed:7204383}; Vmax=4756 mmol/min/mg enzyme with trioleoylglycerol as substrate {ECO:0000269|PubMed:8112342}; Vmax=5400 nmol/min/mg enzyme with trioleoylglycerol as substrate {ECO:0000269|PubMed:7204383}; Vmax=19400 nmol/min/mg enzyme with 1,2-dioleoylglycerol as substrate {ECO:0000269|PubMed:7204383}; Vmax=22100 nmol/min/mg enzyme with 1,3-dioleoylglycerol as substrate {ECO:0000269|PubMed:7204383}; pH dependence: Optimum pH is 4.5-5 (PubMed:8112342). Optimum pH is 4.4 with either cholesterol oleate or trioleoylglycerol as substrate (PubMed:7204383). {ECO:0000269|PubMed:7204383, ECO:0000269|PubMed:8112342};
GENATLAS Biochemistry:
lipase A,lysosomal,acid,hydrolyzing a wide variety of sterol esters

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

CRISPR Products

miRNA for LIPA Gene

miRTarBase miRNAs that target LIPA

Inhibitory RNA Products

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

Lysosome.

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 LIPA gene
Compartment Confidence
lysosome 5
nucleus 4
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
cytosol 2
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

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,ISS --
GO:0043202 lysosomal lumen TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
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

Pathways by source for LIPA Gene

1 BioSystems pathway for LIPA Gene
3 KEGG pathways for LIPA Gene
1 GeneGo (Thomson Reuters) pathway for LIPA Gene
  • Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)

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

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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Approved, Investigational Pharma Agonist 0
Benzoic acid Approved, Investigational Pharma 11
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
(1S)-1-(PHENOXYMETHYL)PROPYL METHYLPHOSPHONOCHLORIDOATE Experimental Pharma Target 0

(45) 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
  • CE(14:0/0:0)
  • Cholesterol 1-tetradecanoic acid
  • Cholesterol ester(14:0)
  • Cholesterol ester(14:0/0:0)
 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)
  • (3beta)-Cholest-5-en-3-ol hexadecanoate
  • 16:0 Cholesterol ester
  • CE
  • Cholesterol palmitate
  • Cholesteryl hexadecanoate
 601-34-3
genes like me logo Genes that share compounds with LIPA: view

Transcripts for LIPA Gene

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  2. miRNA
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mRNA/cDNA for LIPA Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
8 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 LIPA

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

Relevant External Links for LIPA Gene

GeneLoc Exon Structure for
LIPA

Expression for LIPA Gene

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for LIPA Gene
mRNA expression by BioGPS for LIPA GenemRNA expression by GTEx 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, MaxQB, and MOPED for LIPA Gene



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

SOURCE GeneReport for Unigene cluster for LIPA Gene:

Hs.643030

mRNA Expression by UniProt/SwissProt for LIPA Gene:

P38571-LICH_HUMAN
Tissue specificity: Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart.

Evidence on tissue expression from TISSUES for LIPA Gene

  • Blood(4.9)
  • Nervous system(4.9)
  • Liver(4.7)
  • Spleen(4.6)
  • Skin(4.1)
  • Kidney(3.7)
  • Lung(3.3)
  • Intestine(3.2)
  • Adrenal gland(2.9)
  • Heart(2.8)
  • Lymph node(2.7)
  • Muscle(2.5)
  • Bone marrow(2.5)
  • Pancreas(2.4)
  • Thyroid gland(2.3)
  • Stomach(2.2)
  • Gall bladder(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • duodenum
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • nail
General:
  • 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 and Protein tissue co-expression partners 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 30 31
  • 99.75 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LIPA 30 31
  • 86.55 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LIPA 30 31
  • 81.44 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lipa 30
  • 80.1 (n)
Mouse
(Mus musculus)
 Mammalia Lipa 30 17 31
  • 79.51 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LIPA 31
  • 73 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia LIPA 31
  • 51 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LIPA 30 31
  • 71.62 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LIPA 31
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lipa 30
  • 66.67 (n)
Zebrafish
(Danio rerio)
 Actinopterygii lipf 30 31
  • 64.28 (n)
 OneToOne
wufb73g06 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10828 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001652 30
  • 47.37 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG8093 32
  • 38 (a)
Lip3 32
  • 38 (a)
CG6113 32
  • 37 (a)
CG2772 32
  • 33 (a)
CG5932 32
  • 33 (a)
CG6753 32
  • 33 (a)
CG7329 32
  • 33 (a)
mag 31
  • 32 (a)
 ManyToMany
CG18302 32
  • 32 (a)
CG3635 32
  • 32 (a)
Lip1 32
  • 31 (a)
CG11608 32
  • 30 (a)
CG17097 32
  • 30 (a)
CG11598 32
  • 29 (a)
CG18301 32
  • 29 (a)
CG18530 32
  • 29 (a)
CG11600 32
  • 28 (a)
Worm
(Caenorhabditis elegans)
 Secernentea lipl-5 30
  • 51.93 (n)
ZK6.7b 32
  • 45 (a)
F54F3.3 32
  • 44 (a)
R11G11.14 32
  • 43 (a)
ZK6.7a 32
  • 43 (a)
Y57E12B.3 32
  • 42 (a)
F46B6.8 32
  • 41 (a)
F01G10.7 32
  • 39 (a)
K04A8.5 32
  • 38 (a)
Y50E8A.7 32
  • 32 (a)
lipl-6 31
  • 29 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TGL1 30 31 33
  • 47.01 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFR206C 30
  • 44.08 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC1672.09 30
  • 46 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU02148 30
  • 44.3 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for LIPA Gene

ENSEMBL:
Gene Tree for LIPA (if available)
TreeFam:
Gene Tree for LIPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LIPA: view image

Paralogs for LIPA Gene

Paralogs for LIPA Gene

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

  • LICH_HUMAN
  • Q5T073_HUMAN
  • Q5T770_HUMAN
genes like me logo Genes that share paralogs with LIPA: view

Variants for LIPA Gene

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

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
643938 Uncertain Significance: Lysosomal acid lipase deficiency 89,247,641(-) A/C MISSENSE_VARIANT,INTRON_VARIANT
648013 Likely Pathogenic: Lysosomal acid lipase deficiency 89,247,537(-) C/T SPLICE_DONOR_VARIANT,INTRON_VARIANT
672000 Benign: not provided 89,222,324(-) A/G INTRON_VARIANT
672051 Benign: not provided 89,225,030(-) T/G INTRON_VARIANT
684268 Benign: not provided 89,247,713(-) C/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for LIPA Gene

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)

Additional Variant Information for LIPA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LIPA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
lysosomal acid lipase deficiency
  • cholesteryl ester storage disease; cesd
cholesterol ester storage disease
lysosomal and lipase deficiency
lipid storage disease
  • inborn lipid storage disorder
cryptogenic cirrhosis
  • cirrhosis, cryptogenic
- 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
  • 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.
  • 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.

Genatlas disease for LIPA Gene

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

Additional Disease Information for LIPA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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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 23 41
  2. Lysosomal acid lipase as a preproprotein. (PMID: 15269241) Zschenker O … Ameis D (Journal of biochemistry 2004) 3 4 23
  3. 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 23
  4. 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 23
  5. 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 23

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