LORICRIN loricrin cornified envelope precursor protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: LORICRINprovided by HGNC
Official Full Name: loricrin cornified envelope precursor proteinprovided by HGNC
Primary source: HGNC:HGNC:6663
See related: Ensembl:ENSG00000203782 MIM:152445; AllianceGenome:HGNC:6663
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: LOR
Summary: 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]
Expression: Restricted expression toward skin (RPKM 135.8) See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153259687..153262124)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152396903..152399352)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153232163..153234600)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.
Title: The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.
The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.
Title: The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.
Epidermal autophagy and beclin 1 regulator 1 and loricrin: a paradigm shift in the prognostication and stratification of the American Joint Committee on Cancer stage I melanomas.
Title: Epidermal autophagy and beclin 1 regulator 1 and loricrin: a paradigm shift in the prognostication and stratification of the American Joint Committee on Cancer stage I melanomas.
Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.
Title: Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.
S100A8 and S100A9 decreased the expression of skin barrier proteins, filaggrin and loricrin.
Title: Effect of S100A8 and S100A9 on expressions of cytokine and skin barrier protein in human keratinocytes.
Authors report a multi-generation family with prominent ichthyosis and palmoplantar involvement due to a novel mutation in loricrin.
Title: Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
Letter: Knockdown of either filaggrin or loricrin increases the productions of interleukin (IL)-1alpha, IL-8, IL-18 and granulocyte macrophage colony-stimulating factor in stratified human keratinocytes.
Title: Knockdown of either filaggrin or loricrin increases the productions of interleukin (IL)-1α, IL-8, IL-18 and granulocyte macrophage colony-stimulating factor in stratified human keratinocytes.
Studies on human keratinocytes recognized that loricrin expression was inversely related to the expression of the cyclin-dependent kinase inhibitor p21
Title: Barrier Function of the Repaired Skin Is Disrupted Following Arrest of Dicer in Keratinocytes.
two novel heterozygous frameshift mutations in exon 2 - c.646_647insGCAGCAGGTC, p.Gln216Argfs*123 and c.798_799dupT, p.Gly267Trpfs*69 in loricrin keratoderma patients
Title: Two novel mutations in the LOR gene in three families with loricrin keratoderma.
Results describe a novel frameshift mutation leading to loricrin keratoderma presenting with colloidion membrane
Title: A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Loricrin keratoderma MedGen: C1858805 OMIM: 604117 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:193281 (e-PCR)
- UniSTS:155748

D4S3344 (e-PCR)
- UniSTS:55140

RH17713 (e-PCR)
- UniSTS:52611

NoName (e-PCR)
- UniSTS:485804

SHGC-147038 (e-PCR)
- UniSTS:175572

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
enables structural constituent of skin epidermis	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of skin epidermis	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cornified envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: loricrin

NCBI Reference Sequences (RefSeq)

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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.