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

    Gene ID: 4014, updated on 3-Dec-2023

    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
    NEW
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    Genomic context

    See LORICRIN in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153259687..153262124)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152396903..152399352)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 1338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1740 Neighboring gene peptidoglycan recognition protein 3 Neighboring gene RNA, U6 small nuclear 160, pseudogene Neighboring gene peptidoglycan recognition protein 4

    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

    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
     
    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q5T869, Q5XKF8
      UniProtKB/TrEMBL
      Q6FHY3
      Related
      ENSP00000357731.3, ENST00000368742.4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      153259687..153262124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      152396903..152399352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)