LRAT
Lecithin retinol acyltransferase
Also known as: LCA14, LRAT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95237
- Gene
- LRAT
- Ensembl
- ENSG00000121207
- Chromosome
- 4
- Canonical length
- 230 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum,Golgi apparatus,Plasma membrane,Basal body
OverviewNCBI Gene
The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Canonical amino-acid sequenceUniProt
230 residues, UniProt reviewed canonical sequence.
>O95237|LRAT
1 MKNPMLEVVS LLLEKLLLIS NFTLFSSGAA GEDKGRNSFY ETSSFHRGDV LEVPRTHLTH
61 YGIYLGDNRV AHMMPDILLA LTDDMGRTQK VVSNKRLILG VIVKVASIRV DTVEDFAYGA
121 NILVNHLDES LQKKALLNEE VARRAEKLLG FTPYSLLWNN CEHFVTYCRY GTPISPQSDK
181 FCETVKIIIR DQRSVLASAV LGLASIVCTG LVSYTTLPAI FIPFFLWMAGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LRAT 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 2 nTPM
Expression across tissuesHPA
Tissue
- liver: 2 nTPM
- spinal cord: 1.9 nTPM
- hypothalamus: 1.7 nTPM
- small intestine: 1.5 nTPM
- thyroid gland: 1.4 nTPM
- basal ganglia: 1.2 nTPM
Single-cell type
- retinal pigment epithelial cells: 1,957 nCPM
- choroid plexus epithelial cells: 152 nCPM
- melanocytes: 85 nCPM
- schwann cells: 81 nCPM
- cholangiocytes: 57 nCPM
- pituitary stem cells: 42 nCPM
Immune cell
- total PBMC: 2.2 nTPM
- classical monocyte: 1.9 nTPM
- myeloid DC: 1.5 nTPM
- neutrophil: 0.7 nTPM
- basophil: 0.6 nTPM
- intermediate monocyte: 0.6 nTPM
Brain region
- choroid plexus: 2.3 nTPM
- pons: 1.8 nTPM
- hypothalamus: 1.7 nTPM
- medulla oblongata: 1.6 nTPM
- midbrain: 1.4 nTPM
- white matter: 0.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LRAT.
Disease | AllUniProt
Conditions LRAT is implicated in, by any mechanism.
- Leber congenital amaurosis 14 (LCA14) MIM:613341
Disease | GeneticClinVar
35 pathogenic / likely-pathogenic of 283 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Leber congenital amaurosis 14
- Retinal dystrophy
- Leber congenital amaurosis
- Retinitis pigmentosa
- RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
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)
- 1.32
- gnomAD pLI
- 0.03
- gnomAD missense Z
- -0.02
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to leukemia inhibitory factor
- lipid storage
- positive regulation of lipid transport
- response to bacterium
- response to retinoic acid
- response to vitamin A
- retinoid metabolic process
- retinol metabolic process
- visual perception
- vitamin A metabolic process
Molecular functions
- acyltransferase activity
- retinoic acid binding
- retinol binding
- O-palmitoyltransferase activity
- phosphatidylcholine-retinol O-acyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- LRAT domain
- Lecithin retinol acyltransferase
- Lecithin retinol acyltransferase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LRAT as an antibody target. Whether an autoantibody or antibody against LRAT could matter depends on whether native LRAT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LRAT 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 LRAT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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