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

Gene ID: 448835, updated on 5-Mar-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, Apr 2022]
Expression
Restricted expression toward skin (RPKM 51.7) See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152842856..152843983)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (151979388..151980541)
105.20220307 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
  • 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_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
    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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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