Aliases for LCE1E Gene

Aliases for LCE1E Gene

  • Late Cornified Envelope 1E 2 3 5
  • LEP5 2 3 4
  • Late Cornified Envelope Protein 1E 3 4
  • Late Envelope Protein 5 3 4
  • LCE1E 5

External Ids for LCE1E Gene

Previous GeneCards Identifiers for LCE1E Gene

  • GC01P149571
  • GC01P151025
  • GC01P152747
  • GC01P152758

Summaries for LCE1E Gene

GeneCards Summary for LCE1E Gene

LCE1E (Late Cornified Envelope 1E) is a Protein Coding gene. Diseases associated with LCE1E include Fiedler's Myocarditis. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is LCE1F.

UniProtKB/Swiss-Prot Summary for LCE1E Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LCE1E Gene

Genomics for LCE1E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LCE1E Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J152786 Promoter 0.8 EPDnew Ensembl 250.7 +0.1 87 0.2 CTCF PRDM10 LCE1E LCE1D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LCE1E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LCE1E

Top Transcription factor binding sites by QIAGEN in the LCE1E gene promoter:
  • AML1a
  • ATF6
  • FOXJ2
  • FOXJ2 (long isoform)
  • Pax-2
  • Pax-2a
  • Pax-2b
  • POU3F1

Genomic Locations for LCE1E Gene

Latest Assembly
chr1:152,786,214-152,788,426
(GRCh38/hg38)
Size:
2,213 bases
Orientation:
Plus strand

Previous Assembly
chr1:152,758,733-152,760,902
(GRCh37/hg19 by Entrez Gene)
Size:
2,170 bases
Orientation:
Plus strand

chr1:152,758,690-152,760,902
(GRCh37/hg19 by Ensembl)
Size:
2,213 bases
Orientation:
Plus strand

Genomic View for LCE1E Gene

Genes around LCE1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCE1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCE1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCE1E Gene

Proteins for LCE1E Gene

  • Protein details for LCE1E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T753-LCE1E_HUMAN
    Recommended name:
    Late cornified envelope protein 1E
    Protein Accession:
    Q5T753
    Secondary Accessions:
    • D3DV30

    Protein attributes for LCE1E Gene

    Size:
    118 amino acids
    Molecular mass:
    11616 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Belongs to the LCE cluster present on 1q21.

neXtProt entry for LCE1E Gene

Post-translational modifications for LCE1E Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LCE1E Gene

No data available for DME Specific Peptides for LCE1E Gene

Domains & Families for LCE1E Gene

Gene Families for LCE1E Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LCE1E Gene

InterPro:

Suggested Antigen Peptide Sequences for LCE1E Gene

GenScript: Design optimal peptide antigens:
  • Late envelope protein 5 (LCE1E_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T753

UniProtKB/Swiss-Prot:

LCE1E_HUMAN :
  • Belongs to the LCE family.
Family:
  • Belongs to the LCE family.
genes like me logo Genes that share domains with LCE1E: view

Function for LCE1E Gene

Molecular function for LCE1E Gene

UniProtKB/Swiss-Prot Function:
Precursors of the cornified envelope of the stratum corneum.
UniProtKB/Swiss-Prot Induction:
By UVB.

Phenotypes From GWAS Catalog for LCE1E Gene

Gene Ontology (GO) - Molecular Function for LCE1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0042802 identical protein binding IPI 32296183
genes like me logo Genes that share ontologies with LCE1E: view
genes like me logo Genes that share phenotypes with LCE1E: view

miRNA for LCE1E Gene

miRTarBase miRNAs that target LCE1E

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE1E

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LCE1E Gene

Localization for LCE1E Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LCE1E gene
Compartment Confidence
plasma membrane 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LCE1E Gene

Pathways & Interactions for LCE1E Gene

PathCards logo

SuperPathways for LCE1E Gene

genes like me logo Genes that share pathways with LCE1E: view

Pathways by source for LCE1E Gene

Gene Ontology (GO) - Biological Process for LCE1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development IEA --
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with LCE1E: view

No data available for SIGNOR curated interactions for LCE1E Gene

Drugs & Compounds for LCE1E Gene

No Compound Related Data Available

Transcripts for LCE1E Gene

mRNA/cDNA for LCE1E Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE1E

Alternative Splicing Database (ASD) splice patterns (SP) for LCE1E Gene

No ASD Table

Relevant External Links for LCE1E Gene

GeneLoc Exon Structure for
LCE1E

Expression for LCE1E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LCE1E Gene

mRNA differential expression in normal tissues according to GTEx for LCE1E Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x34.9) and Skin - Not Sun Exposed (Suprapubic) (x15.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LCE1E

SOURCE GeneReport for Unigene cluster for LCE1E Gene:

Hs.250236

mRNA Expression by UniProt/SwissProt for LCE1E Gene:

Q5T753-LCE1E_HUMAN
Tissue specificity: Skin-specific. Expression was readily detected in adult trunk skin, adult arm skin, fetal skin, penal skin, vulva, esophagus and tongue. Not expressed in the cervix, rectum, lung, colon, or placenta.
genes like me logo Genes that share expression patterns with LCE1E: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LCE1E Gene

Orthologs for LCE1E Gene

Evolution for LCE1E Gene

ENSEMBL:
Gene Tree for LCE1E (if available)
TreeFam:
Gene Tree for LCE1E (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LCE1E: view image
Alliance of Genome Resources:
Additional Orthologs for LCE1E

No data available for Orthologs for LCE1E Gene

Paralogs for LCE1E Gene

genes like me logo Genes that share paralogs with LCE1E: view

Variants for LCE1E Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LCE1E Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs11205106 -- p.Ser59Gly
rs56313719 -- p.Gly111Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LCE1E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LCE1E Gene

Variant ID Type Subtype PubMed ID
dgv101e212 CNV gain 25503493
dgv102e212 CNV loss 25503493
dgv14n17 CNV loss 16327808
dgv429n100 CNV gain 25217958
dgv430n100 CNV gain 25217958
dgv431n100 CNV gain 25217958
dgv432n100 CNV gain 25217958
dgv433n100 CNV gain 25217958
dgv434n100 CNV gain+loss 25217958
dgv435n100 CNV gain 25217958
dgv436n100 CNV gain+loss 25217958
dgv437n100 CNV gain+loss 25217958
dgv575n54 CNV gain 21841781
dgv576n54 CNV gain 21841781
dgv577n54 CNV loss 21841781
dgv578n54 CNV gain+loss 21841781
dgv5n50 CNV loss 21212237
dgv72e199 CNV deletion 23128226
dgv77n67 CNV loss 20364138
esv24425 CNV gain+loss 19812545
esv2444007 CNV loss 19546169
esv2535964 CNV deletion 19546169
esv2718228 CNV deletion 23290073
esv2758970 CNV gain+loss 17122850
esv2763813 CNV loss 21179565
esv2764262 CNV gain+loss 21179565
esv2986012 CNV deletion 24192839
esv33483 CNV gain+loss 17666407
esv3578192 CNV loss 25503493
esv3587569 CNV loss 21293372
esv992673 CNV deletion 20482838
nsv1004884 CNV gain 25217958
nsv1005867 CNV loss 25217958
nsv1009758 CNV gain+loss 25217958
nsv1011806 CNV loss 25217958
nsv1143468 CNV deletion 24896259
nsv1161681 CNV deletion 26073780
nsv2910 CNV deletion 18451855
nsv435711 CNV deletion 17901297
nsv498690 CNV loss 21111241
nsv508615 CNV deletion 20534489
nsv547891 CNV loss 21841781
nsv547899 CNV gain 21841781
nsv547905 CNV loss 21841781
nsv79 CNV deletion 15895083
nsv820665 CNV deletion 20802225
nsv8436 CNV gain+loss 18304495
nsv947447 CNV deletion 23825009

Variation tolerance for LCE1E Gene

Residual Variation Intolerance Score: 90% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.78; 83.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LCE1E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCE1E
Leiden Open Variation Database (LOVD)
LCE1E

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCE1E Gene

Disorders for LCE1E Gene

MalaCards: The human disease database

(1) MalaCards diseases for LCE1E Gene - From: COP

Disorder Aliases PubMed IDs
fiedler's myocarditis
  • fiedler myocarditis
- elite association - COSMIC cancer census association via MalaCards
Search LCE1E in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LCE1E

genes like me logo Genes that share disorders with LCE1E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LCE1E Gene

Publications for LCE1E Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation. (PMID: 15854049) Jackson B … Byrne C (The Journal of investigative dermatology 2005) 3 4
  3. Differentially expressed late constituents of the epidermal cornified envelope. (PMID: 11698679) Marshall D … Byrne C (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for LCE1E Gene

Sources for LCE1E Gene