Seroatlas · Human Serome Atlas

LIPA

Lysosomal acid lipase/cholesteryl ester hydrolase

Also known as: CESD, LAL, LICH_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P38571
Gene
LIPA
Ensembl
ENSG00000107798
Chromosome
10
Canonical length
399 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli fibrillar center,Vesicles,Cytosol
Secretome location
Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

399 residues, UniProt reviewed canonical sequence.

>P38571|LIPA
     1  MKMRFLGLVV CLVLWTLHSE GSGGKLTAVD PETNMNVSEI ISYWGFPSEE YLVETEDGYI
    61  LCLNRIPHGR KNHSDKGPKP VVFLQHGLLA DSSNWVTNLA NSSLGFILAD AGFDVWMGNS
   121  RGNTWSRKHK TLSVSQDEFW AFSYDEMAKY DLPASINFIL NKTGQEQVYY VGHSQGTTIG
   181  FIAFSQIPEL AKRIKMFFAL GPVASVAFCT SPMAKLGRLP DHLIKDLFGD KEFLPQSAFL
   241  KWLGTHVCTH VILKELCGNL CFLLCGFNER NLNMSRVDVY TTHSPAGTSV QNMLHWSQAV
   301  KFQKFQAFDW GSSAKNYFHY NQSYPPTYNV KDMLVPTAVW SGGHDWLADV YDVNILLTQI
   361  TNLVFHESIP EWEHLDFIWG LDAPWRLYNK IINLMRKYQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LIPA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
375 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 375 nTPM
  • small intestine: 214 nTPM
  • liver: 205 nTPM
  • lung: 160 nTPM
  • duodenum: 158 nTPM
  • lymph node: 149 nTPM

Single-cell type

  • kupffer cells: 1,525 nCPM
  • oligodendrocytes: 407 nCPM
  • macrophages: 361 nCPM
  • hofbauer cells: 319 nCPM
  • enterocytes: 201 nCPM
  • monocytes: 194 nCPM

Immune cell

  • intermediate monocyte: 356 nTPM
  • non-classical monocyte: 200 nTPM
  • classical monocyte: 168 nTPM
  • total PBMC: 160 nTPM
  • myeloid DC: 124 nTPM
  • MAIT T-cell: 41 nTPM

Brain region

  • white matter: 200 nTPM
  • medulla oblongata: 135 nTPM
  • spinal cord: 101 nTPM
  • pons: 99 nTPM
  • cerebellum: 98 nTPM
  • basal ganglia: 98 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LIPA.

Disease | AllUniProt

Conditions LIPA is implicated in, by any mechanism.

Disease | GeneticClinVar

159 pathogenic / likely-pathogenic of 781 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Wolman disease
  • Lysosomal acid lipase deficiency
  • Cholesteryl ester storage disease
  • Cardiovascular phenotype
  • LIPA-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1
gnomAD pLI
0
gnomAD missense Z
0.23
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LIPA as an antibody target. Whether an autoantibody or antibody against LIPA could matter depends on whether native LIPA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LIPA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LIPA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LIPA. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...