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LIPA (lipase A, lysosomal acid type)

Identity

Alias (NCBI)CESD
LAL
HGNC (Hugo) LIPA
HGNC Alias symbLAL
CESD
HGNC Alias nameWolman disease
 lysosomal acid lipase
 sterol esterase
HGNC Previous namelipase A, lysosomal acid, cholesterol esterase
LocusID (NCBI) 3988
Atlas_Id 56549
Location 10q23.31  [Link to chromosome band 10q23]
Location_base_pair Starts at 89213569 and ends at 89252039 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;21)(q23;q22) RUNX1/LIPA


External links

 

Nomenclature
HGNC (Hugo)LIPA   6617
Cards
Entrez_Gene (NCBI)LIPA    lipase A, lysosomal acid type
AliasesCESD; LAL
GeneCards (Weizmann)LIPA
Ensembl hg19 (Hinxton)ENSG00000107798 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107798 [Gene_View]  ENSG00000107798 [Sequence]  chr10:89213569-89252039 [Contig_View]  LIPA [Vega]
ICGC DataPortalENSG00000107798
TCGA cBioPortalLIPA
AceView (NCBI)LIPA
Genatlas (Paris)LIPA
SOURCE (Princeton)LIPA
Genetics Home Reference (NIH)LIPA
Genomic and cartography
GoldenPath hg38 (UCSC)LIPA  -     chr10:89213569-89252039 -  10q23.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LIPA  -     10q23.31   [Description]    (hg19-Feb_2009)
GoldenPathLIPA - 10q23.31 [CytoView hg19]  LIPA - 10q23.31 [CytoView hg38]
ImmunoBaseENSG00000107798
Genome Data Viewer NCBILIPA [Mapview hg19]  
OMIM278000   613497   
Gene and transcription
Genbank (Entrez)AK091558 AK096406 AK125193 AK130882 AK222760
RefSeq transcript (Entrez)NM_000235 NM_001127605 NM_001288979
Consensus coding sequences : CCDS (NCBI)LIPA
Gene ExpressionLIPA [ NCBI-GEO ]   LIPA [ EBI - ARRAY_EXPRESS ]   LIPA [ SEEK ]   LIPA [ MEM ]
Gene Expression Viewer (FireBrowse)LIPA [ Firebrowse - Broad ]
GenevisibleExpression of LIPA in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3988
GTEX Portal (Tissue expression)LIPA
Human Protein AtlasENSG00000107798-LIPA [pathology]   [cell]   [tissue]
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
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
PDB (RSDB)6V7N   
PDB Europe6V7N   
PDB (PDBSum)6V7N   
PDB (IMB)6V7N   
Structural Biology KnowledgeBase6V7N   
SCOP (Structural Classification of Proteins)6V7N   
CATH (Classification of proteins structures)6V7N   
SuperfamilyP38571
AlphaFold pdb e-kbP38571   
Human Protein Atlas [tissue]ENSG00000107798-LIPA [tissue]
HPRD02044
Protein Interaction databases
DIP (DOE-UCLA)P38571
IntAct (EBI)P38571
BioGRIDLIPA
STRING (EMBL)LIPA
ZODIACLIPA
Ontologies - Pathways
QuickGOP38571
Ontology : AmiGOcell morphogenesis  fibrillar center  sterol esterase activity  sterol esterase activity  sterol esterase activity  nucleoplasm  lysosome  cytosol  inflammatory response  cell population proliferation  lipid catabolic process  sterol metabolic process  lipase activity  lung development  low-density lipoprotein particle clearance  lysosomal lumen  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  tissue remodeling  homeostasis of number of cells within a tissue  
Ontology : EGO-EBIcell morphogenesis  fibrillar center  sterol esterase activity  sterol esterase activity  sterol esterase activity  nucleoplasm  lysosome  cytosol  inflammatory response  cell population proliferation  lipid catabolic process  sterol metabolic process  lipase activity  lung development  low-density lipoprotein particle clearance  lysosomal lumen  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  tissue remodeling  homeostasis of number of cells within a tissue  
Pathways : KEGGSteroid biosynthesis    Lysosome   
NDEx NetworkLIPA
Atlas of Cancer Signalling NetworkLIPA
Wikipedia pathwaysLIPA
Orthology - Evolution
OrthoDB3988
GeneTree (enSembl)ENSG00000107798
Phylogenetic Trees/Animal Genes : TreeFamLIPA
Homologs : HomoloGeneLIPA
Homology/Alignments : Family Browser (UCSC)LIPA
Gene fusions - Rearrangements
Fusion : QuiverLIPA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLIPA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LIPA
dbVarLIPA
ClinVarLIPA
MonarchLIPA
1000_GenomesLIPA 
Exome Variant ServerLIPA
GNOMAD BrowserENSG00000107798
Varsome BrowserLIPA
ACMGLIPA variants
VarityP38571
Genomic Variants (DGV)LIPA [DGVbeta]
DECIPHERLIPA [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DLIPA
Mutations and Diseases : HGMDLIPA
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaLIPA
DgiDB (Drug Gene Interaction Database)LIPA
DoCM (Curated mutations)LIPA
CIViC (Clinical Interpretations of Variants in Cancer)LIPA
Cancer3DLIPA
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM278000    613497   
Orphanet11068    11067   
DisGeNETLIPA
MedgenLIPA
Genetic Testing Registry LIPA
NextProtP38571 [Medical]
GENETestsLIPA
Target ValidationLIPA
Huge Navigator LIPA [HugePedia]
ClinGenLIPA
Clinical trials, drugs, therapy
MyCancerGenomeLIPA
Protein Interactions : CTDLIPA
Pharm GKB GenePA30391
PharosP38571
Clinical trialLIPA
Miscellaneous
canSAR (ICR)LIPA
HarmonizomeLIPA
DataMed IndexLIPA
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXLIPA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:16:23 CEST 2021

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