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    LCE6A late cornified envelope 6A [ Homo sapiens (human) ]

    Gene ID: 448835, updated on 17-Jun-2019

    Summary

    Official Symbol
    LCE6Aprovided by HGNC
    Official Full Name
    late cornified envelope 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:31824
    See related
    Ensembl:ENSG00000235942
    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
    C1orf44
    Expression
    Restricted expression toward skin (RPKM 51.7) See more
    Orthologs

    Genomic context

    See LCE6A in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152842830..152844211)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152815330..152816459)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene late cornified envelope 1B Neighboring gene late cornified envelope 1A Neighboring gene uncharacterized LOC105371444 Neighboring gene uncharacterized LOC105371445

    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

    Related articles in PubMed

    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...

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    keratinization IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    late cornified envelope protein 6A

    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_001128600.2NP_001122072.1  late cornified envelope protein 6A

      See identical proteins and their annotated locations for NP_001122072.1

      Status: VALIDATED

      Source sequence(s)
      BG210316, DQ991251
      Consensus CDS
      CCDS44227.1
      UniProtKB/Swiss-Prot
      A0A183
      Related
      ENSP00000411070.2, ENST00000431011.2
      Conserved Domains (1) summary
      pfam15858
      Location:177
      LCE6A; Late cornified envelope protein 6A family

    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
      152842830..152844211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001327.1XP_016856816.1  late cornified envelope protein 6A isoform X1

      UniProtKB/Swiss-Prot
      A0A183
      Conserved Domains (1) summary
      pfam15858
      Location:177
      LCE6A; Late cornified envelope protein 6A family
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