LCAT

Protein identityUniProt · HPA

UniProt accession

P04180

Gene

LCAT

Ensembl

ENSG00000213398

Chromosome

16

Canonical length

440 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins

Subcellular location

Nucleoplasm

Secretome location

Secreted to blood

OverviewNCBI Gene

This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

440 residues, UniProt reviewed canonical sequence.

>P04180|LCAT
     1  MGPPGSPWQW VTLLLGLLLP PAAPFWLLNV LFPPHTTPKA ELSNHTRPVI LVPGCLGNQL
    61  EAKLDKPDVV NWMCYRKTED FFTIWLDLNM FLPLGVDCWI DNTRVVYNRS SGLVSNAPGV
   121  QIRVPGFGKT YSVEYLDSSK LAGYLHTLVQ NLVNNGYVRD ETVRAAPYDW RLEPGQQEEY
   181  YRKLAGLVEE MHAAYGKPVF LIGHSLGCLH LLYFLLRQPQ AWKDRFIDGF ISLGAPWGGS
   241  IKPMLVLASG DNQGIPIMSS IKLKEEQRIT TTSPWMFPSR MAWPEDHVFI STPSFNYTGR
   301  DFQRFFADLH FEEGWYMWLQ SRDLLAGLPA PGVEVYCLYG VGLPTPRTYI YDHGFPYTDP
   361  VGVLYEDGDD TVATRSTELC GLWQGRQPQP VHLLPLHGIQ HLNMVFSNLT LEHINAILLG
   421  AYRQGPPASP TASPEPPPPE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LCAT 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

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

276 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LCAT.

Disease | AllUniProt

Conditions LCAT is implicated in, by any mechanism.

• Lecithin-cholesterol acyltransferase deficiency (LCATD) MIM:245900
• Fish-eye disease (FED) MIM:136120

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 353 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Fish-eye disease
• Norum disease
• LCAT deficiency
• Cardiovascular phenotype
• LCAT-related disorder

ReferencesPubMed · IEDB

Publications for LCAT from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.61

gnomAD pLI

0.08

gnomAD missense Z

1.32

DepMap mean gene effect

-0.11

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

• aflatoxin metabolic process
• cholesterol homeostasis
• cholesterol metabolic process
• cholesterol transport
• high-density lipoprotein particle remodeling
• lipid metabolic process
• lipoprotein biosynthetic process
• phosphatidylcholine biosynthetic process
• phosphatidylcholine metabolic process
• phospholipid metabolic process
• regulation of high-density lipoprotein particle assembly
• response to copper ion
• response to glucocorticoid
• reverse cholesterol transport
• very-low-density lipoprotein particle remodeling

Molecular functions

• 1-alkyl-2-acetylglycerophosphocholine esterase activity
• apolipoprotein A-I binding
• phospholipase A2 activity
• platelet-activating factor acetyltransferase activity
• sterol ester esterase activity
• phosphatidylcholine-sterol O-acyltransferase activity

Cellular components

• extracellular exosome
• extracellular region
• extracellular space
• high-density lipoprotein particle

Protein domainsUniProt · Pfam · InterPro

• Lecithin:cholesterol/phospholipid:diacylglycerol acyltransferase
• Alpha/Beta hydrolase fold
• Lecithin:cholesterol acyltransferase

KeywordsUniProt

• Acyltransferase
• Cholesterol metabolism
• Corneal dystrophy
• Disulfide bond
• Glycoprotein
• Hydrolase
• Lipid metabolism
• Secreted
• Signal
• Steroid metabolism
• Sterol metabolism
• Transferase

InteractionsUniProt · HPA

Protein binding partners of LCAT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• APOA1