Aliases for LCE1D Gene

Aliases for LCE1D Gene

  • Late Cornified Envelope 1D 2 3 5
  • Late Cornified Envelope Protein 1D 3 4
  • Late Envelope Protein 4 3 4
  • LEP4 3 4

External Ids for LCE1D Gene

Previous GeneCards Identifiers for LCE1D Gene

  • GC01P149583
  • GC01P151035
  • GC01P152769
  • GC01P152797

Summaries for LCE1D Gene

GeneCards Summary for LCE1D Gene

LCE1D (Late Cornified Envelope 1D) is a Protein Coding gene. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is LCE1E.

UniProtKB/Swiss-Prot Summary for LCE1D Gene

Additional gene information for LCE1D Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LCE1D Gene

Genomics for LCE1D Gene

GeneHancer (GH) Regulatory Elements for LCE1D Gene

Promoters and enhancers for LCE1D 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/Enhancer 0.6 EPDnew Ensembl 49.9 -10.6 -10550 0.8 PRDM10 LCE1E LCE1D LCE1F
GH01J152622 Enhancer 0.6 Ensembl ENCODE 13.3 -173.7 -173739 1.6 MYC CTCF NRF1 GABPA POLR2A LCE3A LCE1D PGLYRP4 LCE3B
GH01J152752 Enhancer 0.6 Ensembl ENCODE 13.6 -44.4 -44350 0.8 MNT FOXA2 FOXA1 FOS LCE1D piR-50852-011 lnc-KPRP-1 LCEP1
GH01J152762 Enhancer 0.2 Ensembl 29.4 -35.0 -34950 0.4 LCE1D LCE1E C1orf68 KPRP LCE1F
GH01J152758 Enhancer 0.2 Ensembl 17.7 -39.2 -39150 0.4 KPRP LCE1D piR-50852-011
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LCE1D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LCE1D gene promoter:
  • AML1a
  • ATF6
  • HEN1
  • p53
  • Pax-2a
  • Pax-2b
  • POU3F1
  • ZID

Genomic Locations for LCE1D Gene

Genomic Locations for LCE1D Gene
chr1:152,796,751-152,798,181
(GRCh38/hg38)
Size:
1,431 bases
Orientation:
Plus strand
chr1:152,769,227-152,770,657
(GRCh37/hg19)
Size:
1,431 bases
Orientation:
Plus strand

Genomic View for LCE1D Gene

Genes around LCE1D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCE1D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCE1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCE1D Gene

Proteins for LCE1D Gene

  • Protein details for LCE1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T752-LCE1D_HUMAN
    Recommended name:
    Late cornified envelope protein 1D
    Protein Accession:
    Q5T752

    Protein attributes for LCE1D Gene

    Size:
    114 amino acids
    Molecular mass:
    11230 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Belongs to the LCE cluster present on 1q21.

neXtProt entry for LCE1D Gene

Post-translational modifications for LCE1D Gene

No Post-translational modifications

Other Protein References for LCE1D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LCE1D Gene

Domains & Families for LCE1D Gene

Gene Families for LCE1D Gene

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

Protein Domains for LCE1D Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LCE1D Gene

GenScript: Design optimal peptide antigens:
  • Late envelope protein 4 (LCE1D_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T752

UniProtKB/Swiss-Prot:

LCE1D_HUMAN :
  • Belongs to the LCE family.
Family:
  • Belongs to the LCE family.
genes like me logo Genes that share domains with LCE1D: view

Function for LCE1D Gene

Molecular function for LCE1D 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 LCE1D Gene

Gene Ontology (GO) - Molecular Function for LCE1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IBA 21873635
GO:0005515 protein binding IPI 27107012
genes like me logo Genes that share ontologies with LCE1D: view

Phenotypes for LCE1D Gene

genes like me logo Genes that share phenotypes with LCE1D: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE1D

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LCE1D Gene

Localization for LCE1D 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 LCE1D gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for LCE1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 11698679
GO:0005737 cytoplasm IDA 11698679
GO:0048471 perinuclear region of cytoplasm IDA 11698679
genes like me logo Genes that share ontologies with LCE1D: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for LCE1D Gene

Pathways & Interactions for LCE1D Gene

PathCards logo

SuperPathways for LCE1D Gene

genes like me logo Genes that share pathways with LCE1D: view

Pathways by source for LCE1D Gene

Gene Ontology (GO) - Biological Process for LCE1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development IEA --
GO:0018149 peptide cross-linking IBA 21873635
GO:0030216 keratinocyte differentiation IBA 21873635
GO:0031424 keratinization IEA --
GO:0050890 cognition IMP 23227193
genes like me logo Genes that share ontologies with LCE1D: view

No data available for SIGNOR curated interactions for LCE1D Gene

Drugs & Compounds for LCE1D Gene

No Compound Related Data Available

Transcripts for LCE1D Gene

mRNA/cDNA for LCE1D Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE1D

Alternative Splicing Database (ASD) splice patterns (SP) for LCE1D Gene

No ASD Table

Relevant External Links for LCE1D Gene

GeneLoc Exon Structure for
LCE1D
ECgene alternative splicing isoforms for
LCE1D

Expression for LCE1D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LCE1D Gene

mRNA differential expression in normal tissues according to GTEx for LCE1D Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x34.9) and Skin - Not Sun Exposed (Suprapubic) (x17.8).

Protein differential expression in normal tissues from HIPED for LCE1D 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 LCE1D Gene



Protein tissue co-expression partners for LCE1D Gene

NURSA nuclear receptor signaling pathways regulating expression of LCE1D Gene:

LCE1D

SOURCE GeneReport for Unigene cluster for LCE1D Gene:

Hs.490235

mRNA Expression by UniProt/SwissProt for LCE1D Gene:

Q5T752-LCE1D_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 LCE1D Gene

  • Stomach(3.6)
  • Heart(3)
  • Nervous system(2.9)
  • Intestine(2.2)
  • Skin(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with LCE1D: view

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 LCE1D Gene

Orthologs for LCE1D Gene

Evolution for LCE1D Gene

ENSEMBL:
Gene Tree for LCE1D (if available)
TreeFam:
Gene Tree for LCE1D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LCE1D: view image

No data available for Orthologs for LCE1D Gene

Paralogs for LCE1D Gene

genes like me logo Genes that share paralogs with LCE1D: view

Variants for LCE1D Gene

Sequence variations from dbSNP and Humsavar for LCE1D Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000603769 -- 152,797,592(+) C/T intron_variant
rs1000974343 -- 152,798,398(+) G/C downstream_transcript_variant
rs1004712592 -- 152,796,529(+) C/G upstream_transcript_variant
rs1008108298 -- 152,797,494(+) A/G intron_variant
rs1012015025 -- 152,798,504(+) G/A downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LCE1D Gene

Variant ID Type Subtype PubMed ID
dgv101e212 CNV gain 25503493
dgv102e212 CNV loss 25503493
dgv104e212 CNV loss 25503493
dgv105e212 CNV gain 25503493
dgv14n17 CNV loss 16327808
dgv429n100 CNV gain 25217958
dgv432n100 CNV gain 25217958
dgv435n100 CNV gain 25217958
dgv436n100 CNV gain+loss 25217958
dgv437n100 CNV gain+loss 25217958
dgv438n100 CNV gain 25217958
dgv439n100 CNV gain 25217958
dgv440n100 CNV gain 25217958
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
esv3587569 CNV loss 21293372
esv992673 CNV deletion 20482838
nsv1004884 CNV gain 25217958
nsv1009758 CNV gain+loss 25217958
nsv1012573 CNV loss 25217958
nsv1143468 CNV deletion 24896259
nsv1161681 CNV deletion 26073780
nsv2910 CNV deletion 18451855
nsv435711 CNV deletion 17901297
nsv438059 CNV loss 16468122
nsv471351 CNV loss 19718026
nsv498690 CNV loss 21111241
nsv508615 CNV deletion 20534489
nsv514009 CNV loss 21397061
nsv547891 CNV loss 21841781
nsv547899 CNV gain 21841781
nsv547919 CNV loss 21841781
nsv79 CNV deletion 15895083
nsv820665 CNV deletion 20802225
nsv8436 CNV gain+loss 18304495
nsv947447 CNV deletion 23825009

Variation tolerance for LCE1D Gene

Residual Variation Intolerance Score: 87.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LCE1D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCE1D

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCE1D Gene

Disorders for LCE1D Gene

Additional Disease Information for LCE1D

No disorders were found for LCE1D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LCE1D Gene

Publications for LCE1D Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  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 56
  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 56
  4. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3 56
  5. Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PMID: 23227193) Swaminathan S … Alzheimer's Disease Neuroimaging Initiative and NIA-LOAD/NCRAD Family Study Group (PloS one 2012) 3 56

Products for LCE1D Gene

Sources for LCE1D Gene