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

LIPA Gene

protein-coding   GIFtS: 66
GCID: GC10M090963

Lipase A, Lysosomal Acid, Cholesterol Esterase

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Lipase A, Lysosomal Acid, Cholesterol Esterase1 2     Wolman Disease1
Acid Cholesteryl Ester Hydrolase2 3     Cholesterol Ester Hydrolase2
Cholesteryl Esterase2 3     Lysosomal Acid Lipase2
Sterol Esterase2 3     Lysosomal Acid Lipase/Cholesteryl Ester Hydrolase2
LAL2 3     Lipase A3
EC 3.1.1.133 8     EC 3.1.18
CESD2 5     

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


(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 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 encoding the same protein have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for LIPA Gene: 
LIPA (lipase A, lysosomal acid, cholesterol esterase) is a protein-coding gene. Diseases associated with LIPA include wolman disease, and cholesterol ester storage disease, and among its related super-pathways are cholesterol biosynthesis III (via desmosterol). GO annotations related to this gene include lipase activity and sterol esterase activity. An important paralog of this gene is LIPN.

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




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  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:
91,174,314 bp from pter
Size:
200,989 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for LIPA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000337354   ENSP00000360903   ENSP00000388415   ENSP00000282673   ENSP00000413019  

    Human Recombinant Protein Products for LIPA: 
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    Novus Biologicals LIPA Protein
    Novus Biologicals LIPA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for LIPA
    Cloud-Clone Corp. 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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    Cloud-Clone Corp. ELISAs for LIPA 
    Cloud-Clone Corp. CLIAs for LIPA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     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 domains:
    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


    LIPA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 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
         
    LIPA for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-out Lipatm1Ggb for LIPA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LIPA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LIPA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LIPA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LIPA 

    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 plasmidLIPA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIPA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LIPA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Steroid biosynthesis0.48
    2Phase I, non P450
    Phase I, non P450
    3Lysosome
    Lysosome
    4Cholesterol 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)

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0001816cytokine production IEA--
    GO:0006629lipid metabolic process ----
    GO:0006954inflammatory response IEA--
    GO:0008283cell proliferation IEA--

    LIPA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (LICH)

    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 inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336233(uc001kga.4) ENST00000371837(uc010qnf.2 uc009xtr.1)
    ENST00000428800 ENST00000282673 ENST00000487618(uc001kgd.3) ENST00000463623
    ENST00000489359 ENST00000456827(uc009xtq.3)

    miRNA
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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 plasmidLIPA 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIPA
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    Additional mRNA 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.211702  DT.121275407  DT.121275496  DT.121275399  DT.121275464  DT.95185728  DT.95300955  DT.121275418 

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

    BM754479 H84193 AU126021 CD518825 BQ008970 NM_000235 AV658564 AU132839 
    CB144600 BQ776434 BQ881502 BP362786 M74775 AI304476 BQ641345 BM827862 
    N54613 BQ925278 CA422753 CB139653 AA348403 BG617812 CD673925 AA421992 

    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

    (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)      LIPA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAGTGTCC
    LIPA Expression
    About this image


    LIPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIPA

    (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 9/21 species (see all 21)    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
    Lipase
    66(a)
    1 ↔ 1
    GL344073.1(18368-48211)
    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 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 3 protein entries:     LICH_HUMAN (see all proteins):
    LIPM    LIPF    LIPJ    LIPK    LIPN    DKFZp666P126

    LIPA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/957 SNPs in LIPA are shown (see all 957)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0042504
    Wolman disease (WOD)4--see VAR_0042502 L P mis40--------
    VAR_0042494
    Cholesteryl ester storage disease (CESD)4--see VAR_0042492 H R mis40--------
    VAR_0042484
    Cholesteryl ester storage disease (CESD)4--see VAR_0042482 H P mis40--------
    rs1133773281,2
    C--84615435(+) TCAAT-/AAAAAA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs800947721,2
    C--84617520(+) CAACAG/TGCTTC 2 -- int10--------
    rs765074341,2
    C--84617521(+) AACAGG/TCTTCA 2 -- int10--------
    rs2019182251,2
    --84645745(+) AAGAG-/AGTGGG 2 -- int10--------
    rs2001111241,2
    --84645746(+) AGAGA-/GTGGGCT 2 -- int10--------
    rs748637801,2
    C--84646710(+) GGTGG-/GA    
       T
    /TGA
    TAAGT
    4 -- us2k1 cds10--------
    rs118140221,2
    H--90972914(+) ggaggG/Taggag 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for LIPA (90973326 - 91174314 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for LIPA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv520796CNV Loss19592680
    nsv895882CNV Loss21882294
    nsv517170CNV Loss19592680
    dgv118n27CNV Loss19166990
    nsv523061CNV Gain19592680
    dgv317e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): LIPA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LIPA
    DNA2.0 Custom Variant and Variant Library Synthesis for LIPA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613497   
    OMIM disorders: 278000  
    UniProtKB/Swiss-Prot: LICH_HUMAN, P38571
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/24 diseases for LIPA (see all 24):    About MalaCards
    wolman disease    cholesterol ester storage disease    lysosomal acid lipase deficiency    blepharitis
    splenomegaly    lipid storage disease    lysosomal storage disease    pandas
    lipodystrophy    hypercholesterolemia    proteinuria    diarrhea
    atherosclerosis    malaria    coronary heart disease    insulin resistance
    hepatitis    diabetes mellitus    alzheimer's disease    anemia

    2 diseases from the University of Copenhagen DISEASES database for LIPA:
    Wolman disease     Blepharitis

    LIPA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/14 Novoseek inferred 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

    (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 159):
    (articles sorted by number of sources associating them with LIPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism. (PubMed id 16730122)1, 4, 9 von Trotha K.T....Kolsch H. (2006)
    2. 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)
    3. 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)
    4. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. (PubMed id 8112342)1, 2, 9 Ameis D.... Greten H. (1994)
    5. 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)
    6. 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)
    7. 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)
    8. A genome-wide association study in Europeans and Sout h Asians identifies five new loci for coronary artery disease. (PubMed id 21378988)1, 4 (2011)
    9. A Genome-Wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease. (PubMed id 21606135)1, 4 Wild P.S....Blankenberg S. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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