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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LIPA Gene

protein-coding   GIFtS: 65
GCID: GC10M090963

lipase A, lysosomal acid, cholesterol esterase
 Explore 27 diseases affiliated with
LIPA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for LIPA    

Aliases
for LIPA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Lipase A, Lysosomal Acid, Cholesterol Esterase1 2     EC 3.1.1.133 8
LAL1 2 3     Cholesterol Ester Hydrolase2
CESD1 2 5     Lysosomal Acid Lipase2
Acid Cholesteryl Ester Hydrolase2 3     Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase2
Cholesteryl Esterase2 3     Lipase A3
Sterol Esterase2 3     EC 3.1.18

External Ids:    HGNC: 66171   Entrez Gene: 39882   Ensembl: ENSG000001077987   OMIM: 6134975   UniProtKB: P385713   

Export aliases for LIPA gene to outside databases

Previous GC identifers: GC10M089854 GC10M090194 GC10M091104 GC10M090637 GC10M084607


Summaries
for LIPA gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for LIPA:
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 encoding
the same protein have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: LICH_HUMAN, P38571
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




Genomic Views
for LIPA gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LIPA gene promoter:
         PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): LIPA promoter sequence
   Search SABiosciences Chromatin IP Primers for LIPA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LIPA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.2-q23.3   Ensembl cytogenetic band:  10q23.31   HGNC cytogenetic band: 10q23.2-q23.3

LIPA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LIPA gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M090963:  view genomic region     (about GC identifiers)

Start:
 90,973,326 bp from pter      End:
 91,174,382 bp from pter
Size:
 201,057 bases      Orientation:
 minus strand

Proteins
for LIPA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: LICH_HUMAN, P38571 (See protein sequence)
Recommended Name: Lysosomal acid lipase/cholesteryl ester hydrolase precursor  
Size: 399 amino acids; 45419 Da
Subcellular location: Lysosome
Secondary accessions: B2RBH5 D3DR29 Q16529 Q53H21 Q5T074 Q5T771 Q96EJ0
Alternative splicing: 2 isoforms:  P38571-1   P38571-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LIPA: NX_P38571

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P38571

    • 4/10 DME Specific Peptides for LIPA (P38571) (see all 10)
     LHWSQAV  TEDGYIL  VQNMLHW  FILADAG 

    LIPA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000226.2  NP_001121077.1  

    ENSEMBL proteins: 
     ENSP00000337354   ENSP00000360903   ENSP00000360894   ENSP00000388415   ENSP00000282673  
     ENSP00000392037   ENSP00000438127   ENSP00000413019   ENSP00000437564  

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    Uscn Proteins for LIPA

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--


    LIPA for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for LIPA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    LIPA for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006693 AB_hydrolase_lipase
     IPR025483 Lipase_euk
     IPR000073 AB_hydrolase_1

    Graphical View of Domain Structure for InterPro Entry P38571

    ProtoNet protein and cluster: P38571

    3 Blocks protein families:
    IPB000073 Alpha/beta hydrolase fold
    IPB006693 Ab-hydrolase associated lipase region
    IPB008262 Lipase


    UniProtKB/Swiss-Prot: LICH_HUMAN, P38571
    Similarity: Belongs to the AB hydrolase superfamily. Lipase family


    Function
    for LIPA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: LICH_HUMAN, P38571
    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
    Catalytic activity: A steryl ester + H(2)O = a sterol + a fatty acid

         Genatlas biochemistry entry for LIPA:
    lipase A,lysosomal,acid,hydrolyzing a wide variety of sterol esters

    Enzyme Numbers (IUBMB): EC 3.1.1.131 2 EC 3.1.12

    miRNA
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    hsa-miR-125a-5p hsa-miR-576-5p hsa-miR-520d-5p hsa-miR-148b hsa-miR-561 hsa-miR-570 hsa-miR-152 hsa-miR-670
    SwitchGear 3'UTR luciferase reporter plasmid: LIPA 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: LIPA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004771sterol esterase activity IDA1718995
    GO:0016298lipase activity IDA1718995
    GO:0016788hydrolase activity, acting on ester bonds ----


    LIPA for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Lipatm1Ggb for LIPA
         15 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lipa):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  nervous system  renal/urinary system  respiratory system 

    LIPA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for LIPA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Phase I, non P450
    		Phase I, non P4501.00
    2Lysosome
    		Lysosome1.00
    3Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
    		Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)1.00
    4cholesterol biosynthesis III (via desmosterol)
    		Steroid biosynthesis0.60

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for LIPA
        Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)

    1 BioSystems Pathway for LIPA 
        Phase I, non P450


    2         Kegg Pathways  (Kegg details for LIPA):
        Steroid biosynthesis
    Lysosome


    LIPA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LIPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/65 Interacting proteins for LIPA (P385713 ENSP000003373544) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0001816cytokine production IEA--
    GO:0006629lipid metabolic process ----
    GO:0006631fatty acid metabolic process ----
    GO:0006954inflammatory response IEA--


    LIPA for ontologies           About GeneDecksing



    Drugs & Compounds
    for LIPA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LIPA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LIPA

    10/195 HMDB Compounds for LIPA (see all 195)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Benzoic acidBenzenecarboxylate (see all 22)65-85-0--
    CE(10:0)Decanoic acid cholesteryl ester (see all 18)1183-04-6--
    CE(12:0)cholest-5-en-3beta-yl dodecanoate (see all 19)1908-11-8--
    CE(14:0)14:0 Cholesterol ester (see all 24)1989-52-2--
    CE(14:1(9Z))CE(14:1/0:0) (see all 22)----
    CE(16:0)Cholest-5-ene-3-beta-yl palmitate (see all 23)601-34-3--
    CE(16:1(9Z))(Z)-Cholesterol 9-hexadecenoate (see all 33)16711-66-3--
    CE(18:0)cholesterol 1-octadecanoate (see all 14)----
    CE(18:1(11Z))cholesterol 1-(11Z-octadecenoate) (see all 25)----
    CE(18:1(9Z))3beta-Hydroxy-5-cholestene 3-oleate (see all 35)303-43-5--
    10/20 Novoseek chemical compound relationships for LIPA gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesteryl oleate 87.4 3 9548592 (1), 9705237 (1), 8941718 (1)
    cholesterol ester 86.5 27 7759067 (2), 2174262 (1), 7857877 (1), 9548592 (1) (see all 18)
    cholesterol 57.1 25 16730122 (3), 10365847 (2), 11676294 (1), 9732935 (1) (see all 15)
    lipid 55.6 31 16877765 (2), 11431432 (2), 9700186 (2), 8680486 (1) (see all 20)
    triacylglycerol 39.3 10 9337878 (2), 9186906 (1), 16226259 (1), 19699313 (1) (see all 5)
    simvastatin 35 1 1801793 (1)
    lovastatin 34.4 2 9365051 (2)
    mannose 29 1 11487567 (1)
    oleic acid 20.4 1 1730047 (1)
    ribonucleic acid 13.1 1 14662261 (1)

    Search CenterWatch for drugs/clinical trials and news about LIPA / LICH 

    Transcripts
    for LIPA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for LIPA gene (2 alternative transcripts): 
    NM_000235.2  NM_001127605.1  

    Unigene Cluster for LIPA:

    Lipase A, lysosomal acid, cholesterol esterase
    Hs.643030  [show with all ESTs]
    Unigene Representative Sequence: AK091558
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336233(uc001kga.4) ENST00000371837(uc010qnf.2 uc009xtr.1)
    ENST00000371829 ENST00000428800 ENST00000282673 ENST00000487618(uc001kgd.3)
    ENST00000463623 ENST00000489359 ENST00000425287(uc001kgb.4 uc001kgc.4)
    ENST00000541980 ENST00000456827(uc009xtq.3) ENST00000542307

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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate LIPA (see all 13):
    hsa-miR-125a-5p hsa-miR-576-5p hsa-miR-520d-5p hsa-miR-148b hsa-miR-561 hsa-miR-570 hsa-miR-152 hsa-miR-670
    SwitchGear 3'UTR luciferase reporter plasmid: LIPA 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK091558.1 AK096406.1 AK125193.1 AK130882.1 AK222760.1 AK290241.1 AK293491.1 AK297079.1 
    AK314665.1 BC012287.1 M74775.1 U08464.1 X76488.1 Z31690.1 

    24/40 DOTS entries (see all 40):

    DT.317789  DT.100796845  DT.100796832  DT.100796847  DT.100796839  DT.121275400  DT.100796828  DT.95185724 
    DT.97786894  DT.102835601  DT.101982854  DT.100796843  DT.121275514  DT.121275481  DT.100796833  DT.121275543 
    DT.121275407  DT.121275496  DT.121275399  DT.121275464  DT.95185728  DT.95300955  DT.121275418  DT.121275426 

    24/370 AceView cDNA sequences (see all 370):

    AU127663 BF727167 BG171684 BM462057 BU623837 AU136599 AU126021 AW276251 
    AA348402 CB144600 BQ212790 CB116849 BP362786 CD673925 H84193 CD365607 
    AA025598 CR592516 H84912 AA348403 BF726809 BM997136 BP345192 BM830919 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for LIPA (see all 6)    About this scheme

    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:                    -           -                                                                                             


    ECgene alternative splicing isoforms for LIPA

    Expression
    for LIPA gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LIPA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGAAGTGTCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    LIPA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See LIPA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LIPA

    SOURCE GeneReport for Unigene cluster: Hs.643030
        SABiosciences Custom PCR Arrays for LIPA
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    In Situ
    Assay Products:     
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    Orthologs
    for LIPA gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for LIPA gene from 9/31 species (see all 31)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Lipa1 , 5 lysosomal acid lipase A1, 5 79.51(n)1
    74.31(a)1    		   19 (29.70 cM)5
    168891  NM_001111100.11  NP_001104570.11 
     344923185 
    chicken
    (Gallus gallus)    		 Aves LIPA1 lipase A, lysosomal acid, cholesterol esterase (Wolman more 71.71(n)
    73.24(a)    		   423789  XM_421661.3  XP_421661.3 
    lizard
    (Anolis carolinensis)    		 Reptilia LIPA6
    		 --
    		 66(a)
    		 1 ↔ 1
    		 GL344073.1(18368-44724)
    zebrafish
    (Danio rerio)    		 Actinopterygii wufb73g062 Danio rerio mRNA similar to lipase A (cDNA clone MGC56632 more 72.94(n)    BC052131.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG80931 , 3 triacylglycerol lipase3
    CG80931    		 38(a)
    (best of 16)3
    49.1(n)1
    40.17(a)1    		   51E73
    366861  NM_137176.21  NP_611020.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea ZK6.7b3
    lipl-51    		 Protein LIPL-51 45(a)
    (best of 9)3
    51.93(n)1
    47.51(a)1    		   V(385581-387331)3
    1785631  NM_070783.21  NP_503184.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes TGL1(YKL140W)4
    TGL11    		 Steryl ester hydrolase, one of three gene products more4
    Tgl1p1    		 47.25(n)1
    37.84(a)1    		   11(180779-182425)4
    8537171, 4  NP_012782.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MPL11 triacylglycerol lipase 2 45.93(n)
    36.75(a)    		   831268  NM_121422.3  NP_568295.2 
    rice
    (Oryza sativa)    		 Liliopsida Os08g05298001 hypothetical protein 44.04(n)
    36.31(a)    		   4346120  NM_001068856.1  NP_001062321.1 


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

    Paralogs
    for LIPA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LIPA gene
    LIPN2  LIPK2  LIPJ2  LIPF2  LIPM2  
    6 SIMAP similar genes for LIPA using alignment to 5 protein entries:     LICH_HUMAN (see all proteins):
    LIPM    LIPJ    LIPK    LIPF    LIPN    DKFZp666P126

    LIPA for paralogs           About GeneDecksing



    Genomic Variants
    for LIPA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/793 NCBI SNPs in LIPA are shown (see all 793)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs118140221,2
    		H--84607375(+) ggaggG/Taggag 2 -- ds50010--------
    rs118136271,2
    		H--84607376(+) gaggtA/Gggagg 2 -- ds50010--------
    rs118192921,2
    		C,F,H,--84607635(+) GCATAC/AAAAAA 2 -- ds50015Minor allele frequency- A:0.02NS NA 504
    rs733699041,2
    		C,--84607733(+) CAAGAG/AAGAAA 2 -- ds50012Minor allele frequency- A:0.03WA 120
    rs1134302891,2
    		C--84607793(+) TTCTTA/C/TGGGCC 4 -- ut311CSA 1
    rs789312901,2
    		F,--84607860(+) TATTCG/TCCCTG 2 -- ut311Minor allele frequency- T:0.07WA 118
    rs135001,2
    		C,F,O,A,H,--84607954(-) CTGTCC/TGGTGG 2 -- ut31 ese316Minor allele frequency- T:0.13MN NS EA NA WA 2074
    rs412841161,2
    		--84608303(+) AAATTC/GAGAGC 2 -- ut310--------
    rs96642011,2
    		C,H,--84608439(+) AAAACG/ATGTCA 2 -- ut31 ese35Minor allele frequency- A:0.01NS EA WA 474
    rs1132546291,2
    		F,--84608631(+) ACTGCG/ATACTT 2 -- ut312Minor allele frequency- A:0.50CSA 4

    HapMap Linkage Disequilibrium report for LIPA (90973326 - 91174382 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for LIPA
         3 CNVs: 3816 53302 48670
    Human Gene Mutation Database (HGMD): LIPA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LIPA
    DNA2.0 Custom Variant and Variant Library Synthesis for LIPA

    Disorders / Diseases
    for LIPA gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    LIPA for disorders           About GeneDecksing

    OMIM gene information: 613497   
    OMIM disorders: 278000  
    UniProtKB/Swiss-Prot: LICH_HUMAN, P38571
  • Defects in LIPA are the cause of Wolman disease (WOD) [MIM:278000]. WOD is a severe manifestation of LIPA
    • deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WOD
    occurs in infancy and is nearly always fatal before the age of 1 year
  • Defects in LIPA are the cause of cholesteryl ester storage disease (CESD) [MIM:278000]. CESD is 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

    20/27 diseases for LIPA (see all 27):    About MalaCards
    cholesteryl ester storage disease    wolman disease    cholesterol    lysosomal storage disease
    cholesterol ester storage disease    lipid storage disease    splenomegaly    blepharitis
    insulin resistance    hyperlipidemia    hypercholesterolemia    diabetes mellitus
    pandas    lipodystrophy    hepatitis c    proteinuria
    hepatitis b    diarrhea    atherosclerosis    liver cancer

    1 disease from the University of Copenhagen DISEASES database for LIPA:
    Wolman disease

    10/14 Novoseek disease relationships for LIPA gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesteryl ester storage disease 98.7 67 8894696 (2), 18413899 (2), 8864960 (2), 9633819 (2) (see all 37)
    wolman disease 98.5 50 11177564 (4), 8617513 (3), 11441129 (2), 18413899 (2) (see all 29)
    hepatomegaly 67.7 3 10735626 (1), 12162818 (1), 16848116 (1)
    lysosomal storage diseases 61.7 3 11177564 (1), 17033804 (1)
    hyperlipidemia 39.9 8 12972290 (2), 7751811 (1), 16848116 (1), 12965109 (1)
    hypercholesterolemia 38.8 3 12972290 (1), 2070966 (1)
    atherosclerosis 34.1 11 16877765 (3), 14615393 (2), 15361789 (2), 10735626 (1) (see all 6)
    splenomegaly 9.18 1 10735626 (1)
    dyslipidemia 1.71 1 8566968 (1)
    atherosclerotic plaque 1.04 1 14615393 (1)

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

    Genetic Association Database (GAD): LIPA
    Human Genome Epidemiology (HuGE) Navigator: LIPA (35 documents)

    Export disorders for LIPA gene to outside databases

    Publications
    for LIPA gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LIPA gene, integrated from 9 sources (see all 157):
    (articles sorted by number of sources associating them with LIPA)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. (PubMed id 9633819)1, 2, 9 Ries S.... Schmitz G. (1998)
    2. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. (PubMed id 8725147)1, 2, 9 Du H.... Grabowski G.A. (1996)
    3. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. (PubMed id 8112342)1, 2, 9 Ameis D.... Greten H. (1994)
    4. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. (PubMed id 8146180)1, 2, 9 Anderson R.A.... Sando G.N. (1994)
    5. Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases. (PubMed id 1718995)1, 2, 9 Anderson R.A. and Sando G.N. (1991)
    6. In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3. (PubMed id 8432549)1, 3, 9 Anderson R.A....Pettenati M. (1993)
    7. A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease. (PubMed id 16013913)1, 4 Papassotiropoulos A....Hock C. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease. (PubMed id 15465627)1, 4 Riemenschneider M.... Kurz A. (2004)
    10. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)

    External Searches for LIPA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing LIPA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3988 HGNC: 6617 AceView: LIPA Ensembl:ENSG00000107798 euGenes: HUgn3988
    ECgene: LIPA Kegg: 3988 H-InvDB: LIPA

    Other Databases showing LIPA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LIPA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LIPA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LIPA

    Intellectual Property
    for LIPA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for LIPA gene:
    Search GeneIP for patents involving LIPA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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