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

    Gene ID: 448835, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LCE6Aprovided by HGNC
    Official Full Name
    late cornified envelope 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:31824
    See related
    Ensembl:ENSG00000235942 AllianceGenome:HGNC:31824
    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
    Summary
    Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward skin (RPKM 51.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See LCE6A in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152842856..152843983)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (151979388..151980541)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152815332..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 late cornified envelope 7A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation. Jackson B, et al. J Invest Dermatol, 2005 May. PMID 15854049
    2. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Describes neighboring LCE family members that are present in the same cluster on chromosome 1q21.
      Title: Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    late cornified envelope protein 6A

    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.

    mRNA and Protein(s)

    1. NM_001128600.2 → NP_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, ENST00000431011.3
      Conserved Domains (1) summary
      pfam15858
      Location:1 → 77
      LCE6A; Late cornified envelope protein 6A family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      152842856..152843983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001327.2 → XP_016856816.1  late cornified envelope protein 6A isoform X1

      UniProtKB/Swiss-Prot
      A0A183
      Conserved Domains (1) summary
      pfam15858
      Location:1 → 77
      LCE6A; Late cornified envelope protein 6A family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      151979388..151980541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336696.1 → XP_054192671.1  late cornified envelope protein 6A isoform X1

      UniProtKB/Swiss-Prot
      A0A183
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A183.1 GenPept UniProtKB/Swiss-Prot:A0A183

    Gene LinkOut

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