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LIPA (lipase A, lysosomal acid type)

Identity

Alias_nameslipase A
Alias_symbol (synonym)LAL
CESD
Other alias
HGNC (Hugo) LIPA
LocusID (NCBI) 3988
Atlas_Id 56549
Location 10q23.31  [Link to chromosome band 10q23]
Location_base_pair Starts at 90973326 and ends at 91011796 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BMPR1A (10q23.2) / LIPA (10q23.31)LIPA (10q23.31) / ATXN7 (3p14.1)LIPA (10q23.31) / CCDC90B (11q14.1)
LIPA (10q23.31) / CLIP1 (12q24.31)LIPA (10q23.31) / ELK4 (1q32.1)LIPA (10q23.31) / FUT10 (8p12)
LIPA (10q23.31) / LIPA (10q23.31)LIPA (10q23.31) / PRELP (1q32.1)LIPA (10q23.31) / RIC1 (9p24.1)
TCF4 (18q21.2) / LIPA (10q23.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LIPA   6617
Cards
Entrez_Gene (NCBI)LIPA  3988  lipase A, lysosomal acid type
AliasesCESD; LAL
GeneCards (Weizmann)LIPA
Ensembl hg19 (Hinxton)ENSG00000107798 [Gene_View]  chr10:90973326-91011796 [Contig_View]  LIPA [Vega]
Ensembl hg38 (Hinxton)ENSG00000107798 [Gene_View]  chr10:90973326-91011796 [Contig_View]  LIPA [Vega]
ICGC DataPortalENSG00000107798
TCGA cBioPortalLIPA
AceView (NCBI)LIPA
Genatlas (Paris)LIPA
WikiGenes3988
SOURCE (Princeton)LIPA
Genetics Home Reference (NIH)LIPA
Genomic and cartography
GoldenPath hg19 (UCSC)LIPA  -     chr10:90973326-91011796 -  10q23.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LIPA  -     10q23.31   [Description]    (hg38-Dec_2013)
EnsemblLIPA - 10q23.31 [CytoView hg19]  LIPA - 10q23.31 [CytoView hg38]
Mapping of homologs : NCBILIPA [Mapview hg19]  LIPA [Mapview hg38]
OMIM278000   613497   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_000235 NM_001127605 NM_001288979
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LIPA
Cluster EST : UnigeneHs.643030 [ NCBI ]
CGAP (NCI)Hs.643030
Alternative Splicing GalleryENSG00000107798
Gene ExpressionLIPA [ NCBI-GEO ]   LIPA [ EBI - ARRAY_EXPRESS ]   LIPA [ SEEK ]   LIPA [ MEM ]
Gene Expression Viewer (FireBrowse)LIPA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3988
GTEX Portal (Tissue expression)LIPA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP38571   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP38571  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP38571
Splice isoforms : SwissVarP38571
Catalytic activity : Enzyme3.1.1.13 [ Enzyme-Expasy ]   3.1.1.133.1.1.13 [ IntEnz-EBI ]   3.1.1.13 [ BRENDA ]   3.1.1.13 [ KEGG ]   
PhosPhoSitePlusP38571
Domaine pattern : Prosite (Expaxy)LIPASE_SER (PS00120)   
Domains : Interpro (EBI)AB_hydrolase    AB_hydrolase_1    Lipase_euk   
Domain families : Pfam (Sanger)Abhydrolase_1 (PF00561)   
Domain families : Pfam (NCBI)pfam00561   
Conserved Domain (NCBI)LIPA
DMDM Disease mutations3988
Blocks (Seattle)LIPA
SuperfamilyP38571
Human Protein AtlasENSG00000107798
Peptide AtlasP38571
HPRD02044
IPIIPI00007207   IPI00446007   IPI01010444   IPI00748567   IPI01009638   IPI00640162   IPI00641668   
Protein Interaction databases
DIP (DOE-UCLA)P38571
IntAct (EBI)P38571
FunCoupENSG00000107798
BioGRIDLIPA
STRING (EMBL)LIPA
ZODIACLIPA
Ontologies - Pathways
QuickGOP38571
Ontology : AmiGOcell morphogenesis  cytokine production  sterol esterase activity  lysosome  inflammatory response  cell proliferation  lipid catabolic process  lipase activity  lung development  tissue remodeling  homeostasis of number of cells within a tissue  extracellular exosome  
Ontology : EGO-EBIcell morphogenesis  cytokine production  sterol esterase activity  lysosome  inflammatory response  cell proliferation  lipid catabolic process  lipase activity  lung development  tissue remodeling  homeostasis of number of cells within a tissue  extracellular exosome  
Pathways : KEGGSteroid biosynthesis    Lysosome   
NDEx NetworkLIPA
Atlas of Cancer Signalling NetworkLIPA
Wikipedia pathwaysLIPA
Orthology - Evolution
OrthoDB3988
GeneTree (enSembl)ENSG00000107798
Phylogenetic Trees/Animal Genes : TreeFamLIPA
HOVERGENP38571
HOGENOMP38571
Homologs : HomoloGeneLIPA
Homology/Alignments : Family Browser (UCSC)LIPA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLIPA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LIPA
dbVarLIPA
ClinVarLIPA
1000_GenomesLIPA 
Exome Variant ServerLIPA
ExAC (Exome Aggregation Consortium)LIPA (select the gene name)
Genetic variants : HAPMAP3988
Genomic Variants (DGV)LIPA [DGVbeta]
DECIPHER (Syndromes)10:90973326-91011796  ENSG00000107798
CONAN: Copy Number AnalysisLIPA 
Mutations
ICGC Data PortalLIPA 
TCGA Data PortalLIPA 
Broad Tumor PortalLIPA
OASIS PortalLIPA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLIPA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLIPA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LIPA
DgiDB (Drug Gene Interaction Database)LIPA
DoCM (Curated mutations)LIPA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LIPA (select a term)
intoGenLIPA
Cancer3DLIPA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM278000    613497   
Orphanet11068    11067   
MedgenLIPA
Genetic Testing Registry LIPA
NextProtP38571 [Medical]
TSGene3988
GENETestsLIPA
Huge Navigator LIPA [HugePedia]
snp3D : Map Gene to Disease3988
BioCentury BCIQLIPA
ClinGenLIPA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3988
Chemical/Pharm GKB GenePA30391
Clinical trialLIPA
Miscellaneous
canSAR (ICR)LIPA (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLIPA
EVEXLIPA
GoPubMedLIPA
iHOPLIPA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:07:10 CEST 2017

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