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 Phase I biotransformations, non P450. Gene Ontology (GO) annotations related to this gene include lipase activity and sterol esterase activity. An important paralog of this gene is LIPM.
UniProtKB/Swiss-Prot for LIPA Gene
-
Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation.
Additional gene information for LIPA Gene
- 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 , fRNAdb sequence ontologies and piRNA Summary for LIPA Gene
Genomics for LIPA Gene
GeneHancer (GH) Regulatory Elements for LIPA Gene
Promoters and enhancers for LIPA Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the LIPA gene promoter:
-
- PPAR-gamma2
- PPAR-gamma1
Regulatory Element Products
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 Entrez Gene
- 10q23.31 by HGNC
- 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:
- No Data Available
Protein Expression for LIPA Gene
Post-translational modifications for LIPA Gene
Other Protein References for LIPA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for LIPA
- Novus Biologicals Antibodies for LIPA
-
Abcam antibodies for LIPA
- Invitrogen Antibodies for LIPA (AFLGC-LIPA)
- GeneTex LIPA Antibody for LIPA
-
Boster Bio Antibodies for 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
- Search GeneTex for Proteins for LIPA
-
Abcam proteins for LIPA
Assay Products
- antibodies-online: Search results for 9 available Lipase A Elisa Kits ranked by validation data
- Compare Top Lipase A Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for LIPA Gene
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
- Predicted secreted proteins
Protein Domains for LIPA Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LIPA Gene
- GenScript: Design optimal peptide antigens:
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:
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- A steryl ester + H(2)O = a sterol + a fatty acid.
- 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 1 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- liver/biliary system phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region 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
- Cyagen custom Knockout/knockin (KOKI) mouse models for LIPA
-
CRISPR Products
-
OriGene CRISPR knockouts for LIPA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LIPA
- genomics-online: gRNA clones - Search results for 143 available Lipase A gene related products
- Overview of 143 available Lipase A gene related products
- Applied Biological Materials CRISPR for LIPA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LIPA
- GenScript: Design CRISPR guide RNA sequences for LIPA
miRNA for LIPA Gene
- miRTarBase miRNAs that target LIPA
-
- 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
- genomics-online: shRNA clones - Search results for 143 available Lipase A gene related products
- Overview of 143 available Lipase A gene related products
Clone Products
- Sino Biological Human cDNA Clone for LIPA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LIPA
- Applied Biological Materials Clones for LIPA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
|---|---|
| extracellular | 5 |
| lysosome | 5 |
| nucleus | 4 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005764 | lysosome | TAS | 1718995 |
| GO:0043202 | lysosomal lumen | TAS | -- |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
| GO:0070062 | extracellular exosome | HDA | -- |
Pathways & Interactions for LIPA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Metabolism |
.37
|
|
| 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
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 | 8 | |||
| 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 |
|
Drug Products
Transcripts for LIPA Gene
mRNA/cDNA for LIPA Gene
- (4) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (370) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000456827 2527 bps (uc031wnv.2)
- ENST00000489359 461 bps (uc057uuh.1)
- ENST00000463623 510 bps (uc057uuf.1)
- ENST00000487618 858 bps (uc001kgd.4)
- ENST00000282673 753 bps (uc057uua.1)
Unigene Clusters for LIPA Gene
- Lipase A, lysosomal acid, cholesterol esterase:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for LIPA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LIPA
- genomics-online: gRNA clones - Search results for 143 available Lipase A gene related products
- Overview of 143 available Lipase A gene related products
- Applied Biological Materials CRISPR for LIPA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LIPA
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 143 available Lipase A gene related products
- Overview of 143 available Lipase A gene related products
Clone Products
- Sino Biological Human cDNA Clone for LIPA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LIPA
- Applied Biological Materials Clones for LIPA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
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
NURSA nuclear receptor signaling pathways regulating expression of LIPA Gene:
LIPASOURCE GeneReport for Unigene cluster for LIPA Gene:
Hs.643030Evidence on tissue expression from TISSUES for LIPA Gene
- Blood(4.9)
- Nervous system(4.8)
- Liver(4.6)
- Spleen(4.5)
- Kidney(3.4)
- Skin(2.9)
- Lung(2.8)
- Intestine(2.7)
- Adrenal gland(2.5)
- Lymph node(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LIPA Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
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
- genomics-online: primer clones - Search results for 143 available Lipase A gene related products
- Overview of 143 available Lipase A gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LIPA 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LIPA 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LIPA 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Lipa 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Lipa 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | LIPA 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | LIPA 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LIPA 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LIPA 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lipa 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | lipf 34 33 |
|
OneToOne | |
| wufb73g06 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10828 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001652 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8093 35 |
|
|
|
| Lip3 35 |
|
|
|||
| CG6113 35 |
|
|
|||
| CG5932 35 |
|
|
|||
| CG7329 35 |
|
|
|||
| CG2772 35 |
|
|
|||
| CG6753 35 |
|
|
|||
| mag 34 |
|
ManyToMany | |||
| CG18302 35 |
|
|
|||
| CG3635 35 |
|
|
|||
| Lip1 35 |
|
|
|||
| CG17097 35 |
|
|
|||
| CG11608 35 |
|
|
|||
| CG18530 35 |
|
|
|||
| CG11598 35 |
|
|
|||
| CG18301 35 |
|
|
|||
| CG11600 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | lipl-5 33 |
|
||
| ZK6.7b 35 |
|
|
|||
| F54F3.3 35 |
|
|
|||
| ZK6.7a 35 |
|
|
|||
| R11G11.14 35 |
|
|
|||
| Y57E12B.3 35 |
|
|
|||
| F46B6.8 35 |
|
|
|||
| F01G10.7 35 |
|
|
|||
| K04A8.5 35 |
|
|
|||
| Y50E8A.7 35 |
|
|
|||
| lipl-6 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TGL1 36 34 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR206C 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC1672.09 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02148 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for LIPA: view image
Paralogs for LIPA Gene
Variants for LIPA Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1033525334 | uncertain-significance, Wolman disease | 89,213,837(-) | A/C | 3_prime_UTR_variant | |
| rs1051338 | benign, not specified, Wolman disease | 89,247,603(-) | T/G | coding_sequence_variant, intron_variant, missense_variant | |
| rs1051339 | benign, likely-benign, not specified, Wolman disease | 89,247,582(-) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs1051471983 | uncertain-significance, Wolman disease | 89,214,024(-) | G/A | 3_prime_UTR_variant | |
| rs1131706 | benign, Wolman disease | 89,213,919(-) | A/T | 3_prime_UTR_variant |
| 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
(7) MalaCards diseases for LIPA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lysosomal acid lipase deficiency |
|
|
| cholesterol ester storage disease |
|
|
| lipid storage disease |
|
|
| cryptogenic cirrhosis |
|
|
| splenic abscess |
|
|
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
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 22 44 58
- Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. (PMID: 9633819) Ries S … Schmitz G (Human mutation 1998) 3 4 22 58
- Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. (PMID: 8725147) Du H … Grabowski GA (Journal of lipid research 1996) 3 4 22 58
- Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. (PMID: 8112342) Ameis D … Greten H (European journal of biochemistry 1994) 3 4 22 58
- Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. (PMID: 8146180) Anderson RA … Sando GN (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 58
Products for LIPA Gene
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- antibodies-online: Search results for 91 available Lipase A Antibodies ranked by validation data
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- GeneTex LIPA Antibody for LIPA
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- genomics-online: cdna clones - Search results for 143 available Lipase A gene related products
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Sources for LIPA Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
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- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (28) ASD
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- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (42) GenAtlas
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- (45) BGMUT
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- (47) Atlas
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- (49) GenBank
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- (51) HORDE
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- (53) IMGT
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- (55) miRBase
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- (58) PubMed
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- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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- (97) antibodies-online
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