Format

Send to:

Choose Destination

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

Gene ID: 3988, updated on 24-Nov-2020

Summary

Official Symbol
LIPAprovided by HGNC
Official Full Name
lipase A, lysosomal acid typeprovided by HGNC
Primary source
HGNC:HGNC:6617
See related
Ensembl:ENSG00000107798 MIM:613497
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]
Expression
Broad expression in spleen (RPKM 177.6), small intestine (RPKM 113.4) and 21 other tissues See more
Orthologs

Genomic context

See LIPA in Genome Data Viewer
Location:
10q23.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (89213571..89251926, 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 uncharacterized LOC105378418 Neighboring gene cholesterol 25-hydroxylase Neighboring gene uncharacterized LOC105378419 Neighboring gene interferon induced protein with tetratricopeptide repeats 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
GeneReviews: Not available
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
GeneReviews: Not available
Lysosomal acid lipase deficiency Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
sterol esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol esterase activity IDA
Inferred from Direct Assay
more info
PubMed 
sterol esterase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
sterol esterase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
sterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
fibrillar center IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
lysosomal acid lipase/cholesteryl ester hydrolase
Names
acid cholesteryl ester hydrolase
cholesterol ester hydrolase
cholesteryl esterase
lipase A, lysosomal acid, cholesterol esterase
lysosomal acid lipase
sterol esterase
NP_000226.2
NP_001121077.1
NP_001275908.1
XP_024303791.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    5129..43332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000235.4NP_000226.2  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    See identical proteins and their annotated locations for 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, DA394611
    Consensus CDS
    CCDS7401.1
    UniProtKB/Swiss-Prot
    P38571
    Related
    ENSP00000337354.5, ENST00000336233.10
    Conserved Domains (1) summary
    PLN02872
    Location:38396
    PLN02872; triacylglycerol lipase
  2. NM_001127605.3NP_001121077.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    See identical proteins and their annotated locations for 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, HY150944
    Consensus CDS
    CCDS7401.1
    UniProtKB/Swiss-Prot
    P38571
    Conserved Domains (1) summary
    PLN02872
    Location:38396
    PLN02872; triacylglycerol lipase
  3. NM_001288979.2NP_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, DA466221
    Consensus CDS
    CCDS73160.1
    UniProtKB/Swiss-Prot
    P38571
    UniProtKB/TrEMBL
    A0A0A0MT32
    Related
    ENSP00000413019.2, ENST00000456827.5
    Conserved Domains (1) summary
    PLN02872
    Location:1280
    PLN02872; triacylglycerol lipase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    89213571..89251926 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448023.1XP_024303791.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform X1

    Conserved Domains (1) summary
    PLN02872
    Location:38396
    PLN02872; triacylglycerol lipase

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.
Support Center