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    LCE3A late cornified envelope 3A [ Homo sapiens (human) ]

    Gene ID: 353142, updated on 17-Jun-2019

    Summary

    Official Symbol
    LCE3Aprovided by HGNC
    Official Full Name
    late cornified envelope 3Aprovided by HGNC
    Primary source
    HGNC:HGNC:29461
    See related
    Ensembl:ENSG00000185962 MIM:612613
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LEP13
    Orthologs

    Genomic context

    See LCE3A in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152622834..152623103, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152595310..152595579, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene late cornified envelope 3C Neighboring gene late cornified envelope 3B Neighboring gene late cornified envelope pseudogene 4 Neighboring gene long intergenic non-protein coding RNA 302 Neighboring gene late cornified envelope pseudogene 3

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.
    NHGRI GWA Catalog

    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

    Homology

    Clone Names

    • MGC184217

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    structural molecule activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    keratinization IEA
    Inferred from Electronic Annotation
    more info
     
    keratinocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    killing of cells of other organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide cross-linking IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cornified envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    late cornified envelope protein 3A
    Names
    late envelope protein 13

    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.

    mRNA and Protein(s)

    1. NM_178431.1NP_848518.1  late cornified envelope protein 3A

      See identical proteins and their annotated locations for NP_848518.1

      Status: VALIDATED

      Source sequence(s)
      AL139247
      Consensus CDS
      CCDS1017.1
      UniProtKB/Swiss-Prot
      Q5TA76
      Related
      ENSP00000335006.1, ENST00000335674.1
      Conserved Domains (1) summary
      pfam14672
      Location:1989
      LCE; Late cornified envelope

    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
      152622834..152623103 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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