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LIPA Gene

protein-coding   GIFtS: 67
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LIPA Gene:
This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme
functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this
gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript
variants have been found for this gene. (provided by RefSeq, Jan 2014)

GeneCards Summary for LIPA Gene:
LIPA (lipase A, lysosomal acid, cholesterol esterase) is a protein-coding gene. Diseases associated with LIPA include cholesterol ester storage disease, and lysosomal acid lipase deficiency. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   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 Chromatin IP Primers for LIPA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LICH_HUMAN, P38571 (See protein sequence)
Recommended Name: Lysosomal acid lipase/cholesteryl ester hydrolase precursor  
Size: 399 amino acids; 45419 Da
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: 

  • Ubiquitination2 at Lys304
  • Glycosylation2 at Asn36, Asn72, Asn101, Asn161, Asn273, Asn321
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LIPA (P38571) (see all 10)
     LHWSQAV  TEDGYIL  VQNMLHW  FILADAG 


    See LIPA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000226.2  NP_001121077.1  NP_001275908.1  

    ENSEMBL proteins: 
     ENSP00000337354   ENSP00000360903   ENSP00000388415   ENSP00000282673   ENSP00000413019  

    LIPA Human Recombinant Protein Products:

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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

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    ThermoFisher Antibody for LIPA
    LSBio Antibodies in human, mouse, rat for LIPA

    LIPA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body  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: Let us create your new Knockout/Knockin mouse model for LIPA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target LIPA:
    hsa-mir-335-5p (MIRT018033), hsa-mir-215-5p (MIRT024588), hsa-mir-744-5p (MIRT037705), hsa-mir-192-5p (MIRT026530)

    Block miRNA regulation of human, mouse, rat LIPA using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for LIPA
    Predesigned siRNA for gene silencing in human, mouse, rat LIPA

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for LIPA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): LIPA (NM_001127605)
    Sino Biological Human cDNA Clone for LIPA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LIPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIPA

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIPA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LICH_HUMAN, P38571: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    LIPA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LIPA About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    Steroid biosynthesis0.57
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LIPA
    Interactions:

        Search GeneGlobe Interaction Network for LIPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for LIPA (P385713 ENSP000003373544) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LIPA (LICH)

    Selected 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--

    Selected 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)



    LIPA for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LIPA gene (3 alternative transcripts): 
    NM_000235.3  NM_001127605.2  NM_001288979.1  

    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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    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat LIPA
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): LIPA (NM_001127605)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIPA
    Primer
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    OriGene qPCR primer pairs and template standards for LIPA
    OriGene qSTAR qPCR primer pairs in human, mouse for LIPA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LIPA
      QuantiTect SYBR Green Assays in human, mouse, rat LIPA
      QuantiFast Probe-based Assays in human, mouse, rat LIPA

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 370):

    NM_000235 CA446488 CB116849 AU127663 BM827755 AU132839 CB127046 BP362786 
    BQ212790 AU126021 CB144600 BU737141 BP345192 CB111642 BG617812 BG171684 
    AA348403 AU141268 BQ925278 BM462057 CD518825 BQ004863 BC012287 AU136599 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LIPA expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    LIPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LIPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643030
        Custom PCR Arrays for LIPA
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat LIPA
    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for LIPA gene from Selected species (see all 20)    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_021460.31  NP_067435.31 
     344923185 
    chicken
    (Gallus gallus)
    Aves LIPA1 lipase A, lysosomal acid, cholesterol esterase (Wolman more 71.62(n)
    73.24(a)
      423789  XM_421661.4  XP_421661.3 
    lizard
    (Anolis carolinensis)
    Reptilia LIPA6
    lipase A, lysosomal acid, cholesterol esterase
    65(a)
    1 ↔ 1
    GL344073.1(18368-48211)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lipa1 lipase A, lysosomal acid, cholesterol esterase 66.67(n)
    68.53(a)
      548564  NM_001015847.2  NP_001015847.2 
    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 CG80933 triacylglycerol lipase 38(a)
    (best of 16)
      51E7   --
    worm
    (Caenorhabditis elegans)
    Secernentea ZK6.7b3
    lipl-51
    lipl-51 45(a)
    (best of 9)3
    51.93(n)1
    47.51(a)1
      V(385581-387331)3
    1785631  NM_070783.31  NP_503184.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TGL1(YKL140W)4
    TGL11
    Steryl ester hydrolase, one of three gene products more4
    TGL11
    47.01(n)1
    37.72(a)1
      11(180779-182425)4
    8537171, 4  NP_012782.11, 4 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LIPA (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
    Site Specific Mutation Identification with 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

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    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

  • Selected diseases for LIPA (see all 33):    
    About MalaCards
    cholesterol ester storage disease    lysosomal acid lipase deficiency    cholesteryl ester storage disease    wolman disease
    splenomegaly    blepharitis    lipid storage disease    lysosomal storage disease
    pandas    lipodystrophy    hypercholesterolemia    coronary heart disease
    diarrhea    proteinuria    atherosclerosis    hematopoietic stem cell transplantation
    malaria    coronary artery disease    insulin resistance    hepatitis

    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

    Selected 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

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    PubMed articles for LIPA gene, integrated from 10 sources (see all 163):
    (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....KAPlsch H. (Neurosci. Lett. 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. (Hum. Mutat. 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. (J. Lipid Res. 1996)
    4. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. (PubMed id 8112342)1, 2, 9 Ameis D.... Greten H. (Eur. J. Biochem. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Biol. Chem. 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. (Genomics 1993)
    8. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PubMed id 21378988)1, 4 (Nat. Genet. 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. (Circ Cardiovasc Genet 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. (Mol. Med. 2010)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 3988 HGNC: 6617 AceView: LIPA Ensembl:ENSG00000107798 euGenes: HUgn3988
    ECgene: LIPA Kegg: 3988 H-InvDB: LIPA

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LIPA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LIPA[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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