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Aliases for LCE3D Gene

Aliases for LCE3D Gene

  • Late Cornified Envelope 3D 2 3 5
  • Small Proline-Rich-Like Epidermal Differentiation Complex Protein 6A 3 4
  • Small Proline-Rich-Like Epidermal Differentiation Complex Protein 6B 3 4
  • Small Proline Rich-Like (Epidermal Differentiation Complex) 6B 2 3
  • Late Envelope Protein 16 3 4
  • SPRL6A 3 4
  • SPRL6B 3 4
  • LEP16 3 4
  • Small Proline Rich-Like (Epidermal Differentiation Complex) 6A 3
  • Late Cornified Envelope Protein 3D 3

External Ids for LCE3D Gene

Previous HGNC Symbols for LCE3D Gene

  • SPRL6B
  • SPRL6A

Previous GeneCards Identifiers for LCE3D Gene

  • GC01M149364
  • GC01M150818
  • GC01M123925

Summaries for LCE3D Gene

GeneCards Summary for LCE3D Gene

LCE3D (Late Cornified Envelope 3D) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is LCE3E.

UniProtKB/Swiss-Prot for LCE3D Gene

  • Precursors of the cornified envelope of the stratum corneum.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LCE3D Gene

Genomics for LCE3D Gene

Regulatory Elements for LCE3D Gene

Enhancers for LCE3D Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G152480 0.5 ENCODE 9.9 +100.2 100245 0.2 CTCF GABPB1 PCBP1 LCE5A CRCT1 LCE3A LCE3D HRNR CRNN PIR42758
GH01G152639 0.2 ENCODE 10.8 -60.0 -59971 1.2 LCE2D LCE2C LCE2B LCE3D LCEP4 LCE3A
GH01G152597 0.3 FANTOM5 0.4 -17.1 -17093 0.3 C1orf68 HRNR LCE3C LCE3D
GH01G152566 0.2 ENCODE 0.4 +13.6 13575 0.1 LCE3C LCE3E LCE3D
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LCE3D on UCSC Golden Path with GeneCards custom track

Genomic Location for LCE3D Gene

Chromosome:
1
Start:
152,579,381 bp from pter
End:
152,580,504 bp from pter
Size:
1,124 bases
Orientation:
Minus strand

Genomic View for LCE3D Gene

Genes around LCE3D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCE3D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCE3D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCE3D Gene

Proteins for LCE3D Gene

  • Protein details for LCE3D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYE3-LCE3D_HUMAN
    Recommended name:
    Late cornified envelope protein 3D
    Protein Accession:
    Q9BYE3
    Secondary Accessions:
    • Q3MIL1

    Protein attributes for LCE3D Gene

    Size:
    92 amino acids
    Molecular mass:
    9444 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Belongs to the LCE cluster present on 1q21.

neXtProt entry for LCE3D Gene

Post-translational modifications for LCE3D Gene

No Post-translational modifications

Other Protein References for LCE3D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LCE3D Gene

Domains & Families for LCE3D Gene

Gene Families for LCE3D Gene

Protein Domains for LCE3D Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BYE3

UniProtKB/Swiss-Prot:

LCE3D_HUMAN :
  • Belongs to the LCE family.
Family:
  • Belongs to the LCE family.
genes like me logo Genes that share domains with LCE3D: view

Function for LCE3D Gene

Molecular function for LCE3D Gene

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

Gene Ontology (GO) - Molecular Function for LCE3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IBA --
genes like me logo Genes that share ontologies with LCE3D: view
genes like me logo Genes that share phenotypes with LCE3D: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LCE3D Gene

Localization for LCE3D 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 LCE3D gene
Compartment Confidence
cytosol 4
plasma membrane 3
extracellular 3
nucleus 1

Gene Ontology (GO) - Cellular Components for LCE3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with LCE3D: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LCE3D Gene

Pathways & Interactions for LCE3D Gene

genes like me logo Genes that share pathways with LCE3D: view

Pathways by source for LCE3D Gene

Interacting Proteins for LCE3D Gene

Gene Ontology (GO) - Biological Process for LCE3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development IEA --
GO:0018149 peptide cross-linking IBA --
GO:0030216 keratinocyte differentiation IBA --
GO:0031424 keratinization IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with LCE3D: view

No data available for SIGNOR curated interactions for LCE3D Gene

Transcripts for LCE3D Gene

mRNA/cDNA for LCE3D Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LCE3D Gene

Late cornified envelope 3D:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LCE3D Gene

No ASD Table

Relevant External Links for LCE3D Gene

GeneLoc Exon Structure for
LCE3D
ECgene alternative splicing isoforms for
LCE3D

Expression for LCE3D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LCE3D Gene

mRNA differential expression in normal tissues according to GTEx for LCE3D Gene

This gene is overexpressed in Cervix - Ectocervix (x23.0), Vagina (x17.6), and Skin - Sun Exposed (Lower leg) (x5.6).

Protein differential expression in normal tissues from HIPED for LCE3D Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LCE3D Gene



Protein tissue co-expression partners for LCE3D Gene

NURSA nuclear receptor signaling pathways regulating expression of LCE3D Gene:

LCE3D

SOURCE GeneReport for Unigene cluster for LCE3D Gene:

Hs.244349

mRNA Expression by UniProt/SwissProt for LCE3D Gene:

Q9BYE3-LCE3D_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.

Evidence on tissue expression from TISSUES for LCE3D Gene

  • Skin(4.4)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with LCE3D: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for LCE3D Gene

Orthologs for LCE3D Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for LCE3D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LCE3D 35
  • 98 (a)
OneToOne
Species where no ortholog for LCE3D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LCE3D Gene

ENSEMBL:
Gene Tree for LCE3D (if available)
TreeFam:
Gene Tree for LCE3D (if available)

Paralogs for LCE3D Gene

Paralogs for LCE3D Gene

genes like me logo Genes that share paralogs with LCE3D: view

Variants for LCE3D Gene

Sequence variations from dbSNP and Humsavar for LCE3D Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1002195034 -- 152,579,112(+) ACGAC(C/T)GGGGA downstream-variant-500B
rs1002341419 -- 152,580,132(+) GTCTA(A/C)GTGGG intron-variant
rs1002508911 -- 152,581,985(+) TGCAA(C/T)GGAAG upstream-variant-2KB
rs1004417889 -- 152,582,315(+) TTTTG(A/G)TATAC upstream-variant-2KB
rs1005364579 -- 152,581,887(+) CCCAA(A/C)ATTTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LCE3D Gene

Variant ID Type Subtype PubMed ID
dgv100e212 CNV loss 25503493
dgv23n111 CNV deletion 26073780
dgv2n31 CNV loss 19718026
dgv37n27 CNV loss 19166990
dgv38n27 CNV loss 19166990
dgv39n27 CNV loss 19166990
dgv416n100 CNV loss 25217958
dgv417n100 CNV gain 25217958
dgv418n100 CNV loss 25217958
dgv419n100 CNV loss 25217958
dgv420n100 CNV gain+loss 25217958
dgv421n100 CNV loss 25217958
dgv422n100 CNV gain+loss 25217958
dgv423n100 CNV gain 25217958
dgv565n54 CNV loss 21841781
dgv566n54 CNV loss 21841781
dgv567n54 CNV loss 21841781
dgv568n54 CNV loss 21841781
dgv569n54 CNV loss 21841781
dgv5e213 CNV gain 24956385
dgv6e213 CNV loss 24956385
esv2750810 CNV gain 17911159
esv2758970 CNV gain+loss 17122850
esv2762965 CNV loss 21179565
esv33483 CNV gain+loss 17666407
esv3587561 CNV loss 21293372
esv3587562 CNV gain 21293372
nsv1002425 CNV loss 25217958
nsv2888 CNV deletion 18451855
nsv437244 CNV loss 16327808
nsv470739 CNV loss 18288195
nsv516961 CNV loss 19592680
nsv547862 CNV loss 21841781
nsv68 CNV deletion 15895083
nsv997268 CNV loss 25217958

Variation tolerance for LCE3D Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LCE3D Gene

Human Gene Mutation Database (HGMD)
LCE3D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCE3D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCE3D Gene

Disorders for LCE3D Gene

Relevant External Links for LCE3D

Genetic Association Database (GAD)
LCE3D
Human Genome Epidemiology (HuGE) Navigator
LCE3D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LCE3D

No disorders were found for LCE3D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LCE3D Gene

Publications for LCE3D Gene

  1. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. (PMID: 19169255) Zhang X.J. … Liu J.J. (Nat. Genet. 2009) 3 46 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. Late cornified envelope family in differentiating epithelia -- response to calcium and ultraviolet irradiation. (PMID: 15854049) Jackson B. … Byrne C. (J. Invest. Dermatol. 2005) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Differentially expressed late constituents of the epidermal cornified envelope. (PMID: 11698679) Marshall D. … Byrne C. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 64

Products for LCE3D Gene

Sources for LCE3D Gene

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