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    LOR loricrin [ Homo sapiens (human) ]

    Gene ID: 4014, updated on 17-Jun-2019

    Summary

    Official Symbol
    LORprovided by HGNC
    Official Full Name
    loricrinprovided 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
    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

    Genomic context

    See LOR in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (153259635..153262125)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153232179..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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

    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
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    structural constituent of epidermis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    structural molecule activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cornification TAS
    Traceable Author Statement
    more info
     
    cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    keratinocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    keratinocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cornified envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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
      5001..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 Annotation Release 109

    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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