LORICRIN
Loricrin
Also known as: LOR, LORI_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P23490
- Gene
- LORICRIN
- Ensembl
- ENSG00000203782
- Chromosome
- 1
- Canonical length
- 312 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
312 residues, UniProt reviewed canonical sequence.
>P23490|LORICRIN
1 MSYQKKQPTP QPPVDCVKTS GGGGGGGGSG GGGCGFFGGG GSGGGSSGSG CGYSGGGGYS
61 GGGCGGGSSG GGGGGGIGGC GGGSGGSVKY SGGGGSSGGG SGCFSSGGGG SGCFSSGGGG
121 SSGGGSGCFS SGGGGSSGGG SGCFSSGGGG FSGQAVQCQS YGGVSSGGSS GGGSGCFSSG
181 GGGGSVCGYS GGGSGCGGGS SGGSGSGYVS SQQVTQTSCA PQPSYGGGSS GGGGSGGSGC
241 FSSGGGGGSS GCGGGSSGIG SGCIISGGGS VCGGGSSGGG GGGSSVGGSG SGKGVPICHQ
301 TQQKQAPTWP SKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LORICRIN 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)
- 0.75
- Highest tissue expression
- 1,773 nTPM
Expression across tissuesHPA
Tissue
- skin: 1,773 nTPM
- cervix: 45 nTPM
- breast: 23 nTPM
- vagina: 13 nTPM
- skeletal muscle: 10 nTPM
- salivary gland: 4.5 nTPM
Single-cell type
- other brain neurons: 5.8 nCPM
- oligodendrocyte progenitor cells: 5.1 nCPM
- retinal amacrine cells: 4.8 nCPM
- cdc: 4.7 nCPM
- ovarian stromal cells: 4 nCPM
- esophageal apical cells: 3.2 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 2 nTPM
- medulla oblongata: 1.4 nTPM
- pons: 1.2 nTPM
- amygdala: 1.1 nTPM
- basal ganglia: 1 nTPM
- midbrain: 1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LORICRIN.
Disease | AllUniProt
Conditions LORICRIN is implicated in, by any mechanism.
- Vohwinkel syndrome with ichthyosis (VSI) MIM:604117
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 142 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Loricrin keratoderma
- Moyamoya angiopathy
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)
- 1.08
- gnomAD pLI
- 0.33
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Loricrin
- Major keratinocyte cell envelope protein
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LORICRIN as an antibody target. Whether an autoantibody or antibody against LORICRIN could matter depends on whether native LORICRIN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LORICRIN 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 LORICRIN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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