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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
External Ids for LIPA Gene
- HGNC: 6617
- Entrez Gene: 3988
- Ensembl: ENSG00000107798
- OMIM: 613497
- UniProtKB: P38571
Previous GeneCards Identifiers for LIPA Gene
- GC10M089854
- GC10M090194
- GC10M091104
- GC10M090637
- GC10M090963
- GC10M084607
Summaries 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
- HGNC(6617)
- Entrez Gene(3988)
- Ensembl(ENSG00000107798)
- OMIM(613497)
- UniProtKB(P38571)
- Open Targets Platform(ENSG00000107798)
- Monarch Initiative
- Search for LIPA at DataMed
- Search for LIPA at HumanCyc
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
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:
-
- 10q23.31 by HGNC
- 10q23.31 by Entrez Gene
- 10q23.31 by Ensembl
LIPA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B2RBH5
- D3DR29
- Q16529
- Q53H21
- Q5T074
- Q5T771
- Q96EJ0
Protein attributes for LIPA Gene
- Size:
- 399 amino acids
- Molecular mass:
- 45419 Da
- Quaternary structure:
-
- Monomer.
Protein Expression 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
Other Protein References for LIPA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- GeneTex Anti-LAL antibody [N3C3]
-
Custom Antibody ServicesOriGene Antibodies for LIPA
- Novus Biologicals Antibodies for LIPA
-
Abcam antibodies for LIPA
- Invitrogen Antibodies for LIPA (AFLGC-LIPA)
-
Santa Cruz Biotechnology (SCBT) Antibodies for LIPA
- Sino Biological Antibodies for LIPA
Protein Products
-
OriGene Purified Proteins for LIPA
- Search Origene for MassSpec and Protein Over-expression Lysates for LIPA
- Origene Custom Protein Services for LIPA
-
Abcam proteins for LIPA
Assay Products
- antibodies-online: Show 12 available Lipase A Elisa Kits ranked by validation data
- Compare Top Lipase A Elisa Kits
-
Quality Products:
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- Family:
-
- Belongs to the AB hydrolase superfamily. Lipase family.
Function for LIPA Gene
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
| 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 | -- |
Phenotypes for LIPA Gene
- MGI mutant phenotypes for LIPA:
-
inferred from 2 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- hematopoietic system phenotype
- integument phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for LIPA:
Animal Models for LIPA Gene
- MGI Knock Outs for LIPA:
-
- Lipa Lipa<tm1Ggb>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LIPA - Select products 50% OFF >
- * LIPA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LIPA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LIPA
-
Santa Cruz Biotechnology (SCBT) CRISPR for LIPA
miRNA for LIPA Gene
- miRTarBase miRNAs that target LIPA
-
- mmu-miR-324-3p (MIRT010747)
- mmu-miR-24-3p (MIRT013717)
- hsa-miR-335-5p (MIRT018033)
- hsa-miR-215-5p (MIRT024588)
- hsa-miR-192-5p (MIRT026530)
- hsa-miR-744-5p (MIRT037705)
- hsa-miR-125b-5p (MIRT054198)
- hsa-miR-6083 (MIRT556473)
- hsa-miR-5047 (MIRT556474)
- hsa-miR-1301-3p (MIRT556475)
- hsa-miR-4473 (MIRT556476)
- hsa-miR-4671-3p (MIRT556477)
- hsa-miR-3944-5p (MIRT556478)
- hsa-miR-4660 (MIRT556479)
- hsa-miR-2115-3p (MIRT556480)
- hsa-miR-3074-3p (MIRT556481)
- hsa-miR-454-3p (MIRT556482)
- hsa-miR-3666 (MIRT556483)
- hsa-miR-4295 (MIRT556484)
- hsa-miR-301b-3p (MIRT556485)
- hsa-miR-301a-3p (MIRT556486)
- hsa-miR-130b-3p (MIRT556487)
- hsa-miR-130a-3p (MIRT556488)
- hsa-miR-4676-3p (MIRT556489)
- hsa-miR-892c-3p (MIRT556490)
- hsa-miR-452-5p (MIRT556491)
- hsa-miR-944 (MIRT556492)
- hsa-miR-8054 (MIRT556493)
- hsa-miR-548l (MIRT556494)
- hsa-miR-548k (MIRT556495)
- hsa-miR-548av-5p (MIRT556496)
- hsa-miR-559 (MIRT556497)
- hsa-miR-548y (MIRT556498)
- hsa-miR-548w (MIRT556499)
- hsa-miR-548o-5p (MIRT556500)
- hsa-miR-548j-5p (MIRT556501)
- hsa-miR-548i (MIRT556502)
- hsa-miR-548h-5p (MIRT556503)
- hsa-miR-548d-5p (MIRT556504)
- hsa-miR-548c-5p (MIRT556505)
- hsa-miR-548bb-5p (MIRT556506)
- hsa-miR-548b-5p (MIRT556507)
- hsa-miR-548ay-5p (MIRT556508)
- hsa-miR-548au-5p (MIRT556509)
- hsa-miR-548as-5p (MIRT556510)
- hsa-miR-548ar-5p (MIRT556511)
- hsa-miR-548aq-5p (MIRT556512)
- hsa-miR-548ap-5p (MIRT556513)
- hsa-miR-548am-5p (MIRT556514)
- hsa-miR-548ak (MIRT556515)
- hsa-miR-548ae-5p (MIRT556516)
- hsa-miR-548ad-5p (MIRT556517)
- hsa-miR-548ab (MIRT556518)
- hsa-miR-548a-5p (MIRT556519)
- hsa-miR-101-5p (MIRT761083)
- hsa-miR-1250-3p (MIRT761610)
- hsa-miR-1285-3p (MIRT762208)
- hsa-miR-153-5p (MIRT762905)
- hsa-miR-3187-5p (MIRT765311)
- hsa-miR-382-3p (MIRT767552)
- hsa-miR-3945 (MIRT767876)
- hsa-miR-3973 (MIRT767883)
- hsa-miR-4253 (MIRT768075)
- hsa-miR-5189-5p (MIRT773561)
- hsa-miR-520g-3p (MIRT773845)
- hsa-miR-520h (MIRT773872)
- hsa-miR-548at-5p (MIRT774225)
- hsa-miR-578 (MIRT775301)
- hsa-miR-612 (MIRT775852)
- hsa-miR-676-5p (MIRT778549)
- hsa-miR-6860 (MIRT780560)
- hsa-miR-6862-5p (MIRT780599)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LIPA
- Browse OriGene Inhibitory RNA Products For LIPA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIPA
Clone Products
- Applied Biological Materials (abm): Clones for LIPA - Select products 50% OFF >
- * LIPA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206231
- MG221950
- MR206231
- MR206231L3
- MR206231L4
- MR221950
- MR221950L3
- MR221950L4
- RC201637
- RC201637L1
- RC201637L2
- RC201637L3
- RC201637L4
- RC225622
- RC225622L1
- RC225622L2
- RC225622L3
- RC225622L4
- RC237161
- RG201637
- RG225622
- RR214675
- RR214675L3
- RR214675L4
- MR206231L3V
- MR206231L4V
- MR221950L3V
- MR221950L4V
- RC201637L1V
- RC201637L2V
- RC201637L3V
- RC201637L4V
- RC225622L1V
- RC225622L2V
- RC225622L3V
- RC225622L4V
- RR214675L3V
- RR214675L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LIPA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LIPA
Cell Line Products
-
Horizon Cell Lines for LIPA
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.
| 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 |
- Vesicles (3)
| 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 | -- |
Pathways & Interactions for LIPA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Statin Pathway | ||
| 4 | Lysosome |
-
|
|
| 5 | cholesterol biosynthesis III (via desmosterol) | ||
Pathways by source for LIPA Gene
1 BioSystems pathway for LIPA Gene
5 Reactome pathways 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)
Interacting Proteins for LIPA Gene
GPS-Prot Interaction Network for LIPA
| 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 | -- |
No data available for SIGNOR curated interactions for LIPA Gene
Drugs & Compounds for LIPA Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| CE(10:0) |
|
1183-04-6 |
|
|||
| CE(12:0) |
|
1908-11-8 |
|
|||
| CE(14:0) |
|
1989-52-2 |
|
|||
| CE(14:1(9Z)) |
|
|
||||
| CE(16:0) |
|
601-34-3 |
|
Transcripts for LIPA Gene
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 :
-
- ENST00000282673 753 nts (view in UCSC)
- ENST00000336233 2496 nts (view in UCSC)
- ENST00000371837 2513 nts (view in UCSC)
- ENST00000428800 1055 nts (view in UCSC)
- ENST00000456827 2527 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LIPA - Select products 50% OFF >
- * LIPA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LIPA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LIPA
-
Santa Cruz Biotechnology (SCBT) CRISPR for LIPA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LIPA
- Browse OriGene Inhibitory RNA Products For LIPA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIPA
Clone Products
- Applied Biological Materials (abm): Clones for LIPA - Select products 50% OFF >
- * LIPA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206231
- MG221950
- MR206231
- MR206231L3
- MR206231L4
- MR221950
- MR221950L3
- MR221950L4
- RC201637
- RC201637L1
- RC201637L2
- RC201637L3
- RC201637L4
- RC225622
- RC225622L1
- RC225622L2
- RC225622L3
- RC225622L4
- RC237161
- RG201637
- RG225622
- RR214675
- RR214675L3
- RR214675L4
- MR206231L3V
- MR206231L4V
- MR221950L3V
- MR221950L4V
- RC201637L1V
- RC201637L2V
- RC201637L3V
- RC201637L4V
- RC225622L1V
- RC225622L2V
- RC225622L3V
- RC225622L4V
- RR214675L3V
- RR214675L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LIPA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LIPA
| 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
mRNA differential expression in normal tissues according to GTEx for LIPA Gene
This gene is overexpressed in Spleen (x5.0).
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.643030mRNA 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
Primer Products
-
OriGene qPCR primer pairs for LIPA
-
OriGene qPCR primer pairs and template standards for LIPA
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LIPA 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LIPA 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LIPA 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Lipa 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Lipa 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LIPA 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | LIPA 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LIPA 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | LIPA 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lipa 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | lipf 30 31 |
|
OneToOne | |
| wufb73g06 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10828 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001652 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG8093 32 |
|
|
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| Lip3 32 |
|
|
|||
| CG6113 32 |
|
|
|||
| CG2772 32 |
|
|
|||
| CG5932 32 |
|
|
|||
| CG6753 32 |
|
|
|||
| CG7329 32 |
|
|
|||
| mag 31 |
|
ManyToMany | |||
| CG18302 32 |
|
|
|||
| CG3635 32 |
|
|
|||
| Lip1 32 |
|
|
|||
| CG11608 32 |
|
|
|||
| CG17097 32 |
|
|
|||
| CG11598 32 |
|
|
|||
| CG18301 32 |
|
|
|||
| CG18530 32 |
|
|
|||
| CG11600 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | lipl-5 30 |
|
||
| ZK6.7b 32 |
|
|
|||
| F54F3.3 32 |
|
|
|||
| R11G11.14 32 |
|
|
|||
| ZK6.7a 32 |
|
|
|||
| Y57E12B.3 32 |
|
|
|||
| F46B6.8 32 |
|
|
|||
| F01G10.7 32 |
|
|
|||
| K04A8.5 32 |
|
|
|||
| Y50E8A.7 32 |
|
|
|||
| lipl-6 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TGL1 30 31 33 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR206C 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC1672.09 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU02148 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
Variants for LIPA Gene
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIPA Gene
Disorders for LIPA Gene
(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 |
|
|
| cholesterol ester storage disease |
|
|
| lysosomal and lipase deficiency |
|
|
| lipid storage disease |
|
|
| cryptogenic cirrhosis |
|
|
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
Publications for LIPA Gene
- 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
- Lysosomal acid lipase as a preproprotein. (PMID: 15269241) Zschenker O … Ameis D (Journal of biochemistry 2004) 3 4 23
- 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
- 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
- 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
ExternalLinks
Products for LIPA Gene
- Custom Antibody ServicesOriGene Antibodies for LIPA
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for LIPA
- Search Origene for MassSpec and Protein Over-expression Lysates for LIPA
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- Browse OriGene Inhibitory RNA Products For LIPA
- OriGene qPCR primer pairs for LIPA
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- OriGene CRISPR knockouts for LIPA
- MG206231
- MG221950
- MR206231
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- RC201637
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- RR214675
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- RC201637L1V
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- RC225622L1V
- RC225622L2V
- RC225622L3V
- RC225622L4V
- RR214675L3V
- RR214675L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For LIPA
- Sino Biological Human cDNA Clone for LIPA
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for LIPA
- Browse Sino Biological Assays
- Browse Antibodies
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for LIPA
- Novus Biologicals proteins and lysates for LIPA
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for LIPA
- Abcam proteins for LIPA
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- Browse Primary Antibodies
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- Invitrogen Antibodies for LIPA (AFLGC-LIPA)
- VectorBuilder Custom and pre-made DNA vectors for LIPA (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for LIPA (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for LIPA (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for LIPA CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for LIPA
- antibodies-online: Show 92 available Lipase A Antibodies ranked by validation data
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- antibodies-online: Show 12 available Lipase A Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 10 available Lipase A Proteins ranked by validation data
- Compare Top Lipase A Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for LIPA
- Search Santa Cruz Biotechnology (SCBT) for LIPA siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for LIPA
- Horizon Cell Lines for LIPA
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LIPA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LIPA
- Search GeneCopoeia for miRNA 3'UTR Target clone products for LIPA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIPA
Sources for LIPA Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB