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

Gene ID: 3988, updated on 8-Apr-2026
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; AllianceGenome:HGNC:6617
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
Try the new Gene page
Try the new Transcripts and proteins table
See LIPA in Genome Data Viewer
Location:
10q23.31
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (89213572..89414679, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (90097469..90298522, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90973329..91011532, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378418 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3736 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:90994669-90995170 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:90995171-90995670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3737 Neighboring gene cholesterol 25-hydroxylase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3738 Neighboring gene uncharacterized LOC124902477 Neighboring gene uncharacterized LOC105378419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2592 Neighboring gene Sharpr-MPRA regulatory region 6014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3744 Neighboring gene interferon induced protein with tetratricopeptide repeats 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3746 Neighboring gene interferon induced protein with tetratricopeptide repeats 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:91151215-91151376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3749 Neighboring gene interferon induced protein with tetratricopeptide repeats 6, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3752 Neighboring gene interferon induced protein with tetratricopeptide repeats 1B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:91181772-91182971 Neighboring gene interferon induced protein with tetratricopeptide repeats 1 Neighboring gene solute carrier family 16 member 12 Neighboring gene SLC16A12 antisense RNA 1 Neighboring gene interferon induced protein with tetratricopeptide repeats 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91236124-91236624 Neighboring gene NANOG hESC enhancer GRCh37_chr10:91250383-91250884 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:91293618-91294517 Neighboring gene OCT4 hESC enhancer GRCh37_chr10:91318626-91319150 Neighboring gene pantothenate kinase 1 Neighboring gene microRNA 107

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBI GWAS Catalog

Description
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
EBI GWAS Catalog
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carboxylic ester hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, acting on ester bonds IEA
Inferred from Electronic Annotation
more info
 
enables lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables lipase activity IEA
Inferred from Electronic Annotation
more info
 
enables sterol ester esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables sterol ester esterase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables sterol ester esterase activity IEA
Inferred from Electronic Annotation
more info
 
enables sterol ester esterase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables sterol ester esterase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
involved_in sterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
 
is_active_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lysosome TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
lysosomal acid lipase/cholesteryl ester hydrolase
Names
acid cholesteryl ester hydrolase
cholesterol ester hydrolase
cholesteryl esterase
diacylglycerol lipase
lipase A, lysosomal acid, cholesterol esterase
lysosomal acid lipase
sterol esterase
triacylglycerol ester hydrolase
triacylglycerol lipase
NP_000226.2
NP_001121077.1
NP_001275908.1
NP_001427747.1
NP_001427748.1
NP_001427749.1
NP_001427750.1
NP_001427751.1
NP_001427752.1
NP_001427753.1
NP_001427754.1
NP_001427755.1
NP_001427756.1
NP_001427757.1
NP_001427758.1
NP_001427759.1
NP_001427760.1
NP_001427761.1
NP_001427762.1
NP_001427763.1
NP_001427764.1
NP_001427765.1
NP_001427766.1
NP_001427767.1
NP_001427768.1

NEW Try the new Transcript table

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
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    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
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538736.1, ENST00000868677.1
    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/TrEMBL
    A0A0A0MT32
    Related
    ENSP00000413019.2, ENST00000456827.5
    Conserved Domains (1) summary
    PLN02872
    Location:1280
    PLN02872; triacylglycerol lipase
  4. NM_001440818.1NP_001427747.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538737.1, ENST00000868678.1
  5. NM_001440819.1NP_001427748.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353146, AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  6. NM_001440820.1NP_001427749.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353146, AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538720.1, ENST00000868661.1
  7. NM_001440821.1NP_001427750.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353146, AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  8. NM_001440822.1NP_001427751.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353146, AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538722.1, ENST00000868663.1
  9. NM_001440823.1NP_001427752.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353146, AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  10. NM_001440824.1NP_001427753.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353146, AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  11. NM_001440825.1NP_001427754.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538729.1, ENST00000868670.1
  12. NM_001440826.1NP_001427755.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538728.1, ENST00000868669.1
  13. NM_001440827.1NP_001427756.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538725.1, ENST00000868666.1
  14. NM_001440828.1NP_001427757.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538727.1, ENST00000868668.1
  15. NM_001440829.1NP_001427758.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538733.1, ENST00000868674.1
  16. NM_001440830.1NP_001427759.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  17. NM_001440831.1NP_001427760.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353146, AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  18. NM_001440832.1NP_001427761.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538738.1, ENST00000868680.1
  19. NM_001440833.1NP_001427762.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538735.1, ENST00000868676.1
  20. NM_001440834.1NP_001427763.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  21. NM_001440835.1NP_001427764.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/Swiss-Prot
    B2RBH5, D3DR29, P38571, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538732.1, ENST00000868673.1
  22. NM_001440836.1NP_001427765.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  23. NM_001440837.1NP_001427766.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
    Related
    ENSP00000538742.1, ENST00000868683.1
  24. NM_001440838.1NP_001427767.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AL353751, AL513533
    UniProtKB/TrEMBL
    A8K2H6, B3KRG8
  25. NM_001440839.1NP_001427768.1  lysosomal acid lipase/cholesteryl ester hydrolase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL353146, AL353751, AL513533
    UniProtKB/TrEMBL
    B3KU19
    Related
    ENSP00000360903.1, ENST00000371837.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    89213572..89414679 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    90097469..90298522 complement
    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.