Display Settings:

Format

Send to:

Choose Destination

LIPA lipase A, lysosomal acid, cholesterol esterase [ Homo sapiens (human) ]

Gene ID: 3988, updated on 7-Dec-2014
Official Symbol
LIPAprovided by HGNC
Official Full Name
lipase A, lysosomal acid, cholesterol esteraseprovided by HGNC
Primary source
HGNC:HGNC:6617
Locus tag
RP11-341B24.1
See related
Ensembl:ENSG00000107798; HPRD:02044; MIM:613497; Vega:OTTHUMG00000018716
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAL; CESD
Summary
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]
See LIPA in Epigenomics, MapViewer
Location:
10q23.2-q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (89213569..89252039, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90973326..91011660, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene zinc finger RNA binding protein pseudogene Neighboring gene cholesterol 25-hydroxylase Neighboring gene interferon-induced protein with tetratricopeptide repeats 2 Neighboring gene uncharacterized LOC101926887 Neighboring gene interferon-induced protein with tetratricopeptide repeats 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Lysosomal acid lipase deficiency
MedGen: C0043208 OMIM: 278000 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
NHGRI GWA Catalog
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
NHGRI GWA Catalog
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Phase I, non P450, organism-specific biosystem (from WikiPathways)
    Phase I, non P450, organism-specific biosystemThis pathway lists several phase 1 biotransformations and their related enzymes. '''NOTE:''' This pathway is incomplete, reduction and oxidation enzymes are missing
  • Steroid biosynthesis, organism-specific biosystem (from KEGG)
    Steroid biosynthesis, organism-specific biosystem
    Steroid biosynthesis
  • Steroid biosynthesis, conserved biosystem (from KEGG)
    Steroid biosynthesis, conserved biosystem
    Steroid biosynthesis
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
sterol esterase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cytokine production IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
tissue remodeling IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
lysosomal acid lipase/cholesteryl ester hydrolase
Names
lysosomal acid lipase/cholesteryl ester hydrolase
sterol esterase
cholesteryl esterase
lysosomal acid lipase
cholesterol ester hydrolase
acid cholesteryl ester hydrolase
NP_000226.2
NP_001121077.1
NP_001275908.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008194.1 

    Range
    4865..43335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000235.3NP_000226.2  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    See proteins identical to NP_000226.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 5' UTR, as compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC012287, CA435432, DA394611
    Consensus CDS
    CCDS7401.1
    UniProtKB/Swiss-Prot
    P38571
    Related
    ENSP00000337354, OTTHUMP00000020066, ENST00000336233, OTTHUMT00000049308
    Conserved Domains (2) summary
    pfam00561
    Location:113390
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:3799
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
  2. NM_001127605.2NP_001121077.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    See proteins identical to NP_001121077.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 encode the same isoform 1.
    Source sequence(s)
    BC012287, CA435432, HY150944
    Consensus CDS
    CCDS7401.1
    UniProtKB/Swiss-Prot
    P38571
    Conserved Domains (2) summary
    pfam00561
    Location:113390
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:3799
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
  3. NM_001288979.1NP_001275908.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive exons in the 5' region, which results in translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC012287, CA435432, DA394611, DA466221
    Consensus CDS
    CCDS73160.1
    UniProtKB/Swiss-Prot
    P38571
    Related
    ENSP00000413019, ENST00000456827
    Conserved Domains (1) summary
    pfam00561
    Location:1274
    Abhydrolase_1; alpha/beta hydrolase fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    89213569..89252039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    91255383..91293855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    84607788..84646281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_110233.1: Suppressed sequence

    Description
    NR_110233.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.