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

Gene ID: 4014, updated on 8-Aug-2021

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
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
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Genomic context

See LORICRIN in Genome Data Viewer
Location:
1q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (153259635..153262125)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153232163..153234600)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene proline rich 9 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 4 Neighboring gene peptidoglycan recognition protein 3 Neighboring gene peptidoglycan recognition protein 4 Neighboring gene RNA, U6 small nuclear 160, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111513

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
PubMed 
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
PubMed 
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
PubMed 
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
 

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.

Genomic

  1. NG_011818.1 RefSeqGene

    Range
    4985..7422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000427.3NP_000418.2  loricrin

    See identical proteins and their annotated locations for NP_000418.2

    Status: REVIEWED

    Source sequence(s)
    AL161636, BC108290
    Consensus CDS
    CCDS30870.1
    UniProtKB/Swiss-Prot
    P23490
    Related
    ENSP00000357731.3, ENST00000368742.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    153259635..153262125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447049.1XP_024302817.1  loricrin isoform X1

    Conserved Domains (1) summary
    pfam15847
    Location:82186
    Loricrin; Major keratinocyte cell envelope protein
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