Aliases for LCE5A Gene

Aliases for LCE5A Gene

  • Late Cornified Envelope 5A 2 3 5
  • LEP18 2 3 4
  • Small Proline-Rich-Like Epidermal Differentiation Complex Protein 5A 3 4
  • Small Proline Rich-Like (Epidermal Differentiation Complex) 5A 2 3
  • Late Cornified Envelope Protein 5A 3 4
  • Late Envelope Protein 18 3 4
  • SPRL5A 3 4
  • LCE5A 5

External Ids for LCE5A Gene

Previous HGNC Symbols for LCE5A Gene

  • SPRL5A

Previous GeneCards Identifiers for LCE5A Gene

  • GC01P149297
  • GC01P150749
  • GC01P152483
  • GC01P123856

Summaries for LCE5A Gene

GeneCards Summary for LCE5A Gene

LCE5A (Late Cornified Envelope 5A) is a Protein Coding gene. Diseases associated with LCE5A include Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate and Irritant Dermatitis. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is LCE1F.

UniProtKB/Swiss-Prot Summary for LCE5A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LCE5A Gene

Genomics for LCE5A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LCE5A 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
GH01J152459 Enhancer 0.8 ENCODE 10.3 -50.5 -50500 1.4 BCLAF1 SP1 CTCF TRIM22 SIX4 ELF1 RAD21 SMC3 EZH2 GABPB1 CRCT1 LCE5A S100A11 RPTN CRNN piR-61532-019 piR-61514-019
GH01J152480 Enhancer 0.6 Ensembl ENCODE 11.2 -30.2 -30210 0.8 CTCF GABPB1 MAFK ZNF143 SMARCA5 LCE5A CRCT1 LCE3A LCE3D HRNR CRNN S100A11 FLG-AS1 MN296878 lnc-LCE5A-5
GH01J152461 Enhancer 0.6 ENCODE 10.3 -49.0 -49043 0.2 ZNF654 CTCF CEBPB TRIM22 CUX1 SMC3 SRF RAD21 RFX1 ZNF143 CRCT1 LCE5A S100A11 RPTN piR-61532-019 piR-61514-019 CRNN
GH01J152537 Enhancer 0.2 Ensembl 11.2 +26.8 26798 0.4 CRCT1 LCE5A LCE3D FLG-AS1 CRNN lnc-CRCT1-2 piR-32461-009 LCE3E
GH01J152501 Enhancer 0.6 Ensembl ENCODE 0.4 -8.1 -8109 3 RFX1 FOS ESRRA MAFK SIN3A RORC CRNN LCE5A lnc-LCE5A-4 lnc-LCE5A-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LCE5A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LCE5A

Top Transcription factor binding sites by QIAGEN in the LCE5A gene promoter:
  • AML1a
  • C/EBPbeta
  • FOXI1
  • GATA-1
  • HFH-3
  • Ik-2
  • JunB
  • LyF-1
  • p53

Genomic Locations for LCE5A Gene

Latest Assembly
chr1:152,510,803-152,512,177
(GRCh38/hg38)
Size:
1,375 bases
Orientation:
Plus strand

Previous Assembly
chr1:152,483,279-152,484,653
(GRCh37/hg19 by Entrez Gene)
Size:
1,375 bases
Orientation:
Plus strand

chr1:152,483,320-152,484,653
(GRCh37/hg19 by Ensembl)
Size:
1,334 bases
Orientation:
Plus strand

Genomic View for LCE5A Gene

Genes around LCE5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCE5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCE5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCE5A Gene

Proteins for LCE5A Gene

  • Protein details for LCE5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TCM9-LCE5A_HUMAN
    Recommended name:
    Late cornified envelope protein 5A
    Protein Accession:
    Q5TCM9

    Protein attributes for LCE5A Gene

    Size:
    118 amino acids
    Molecular mass:
    11795 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Belongs to the LCE cluster present on 1q21.

neXtProt entry for LCE5A Gene

Post-translational modifications for LCE5A Gene

No Post-translational modifications

Other Protein References for LCE5A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LCE5A Gene

Domains & Families for LCE5A Gene

Gene Families for LCE5A Gene

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

Protein Domains for LCE5A Gene

InterPro:

Suggested Antigen Peptide Sequences for LCE5A Gene

GenScript: Design optimal peptide antigens:
  • Small proline-rich-like epidermal differentiation complex protein 5A (LCE5A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TCM9

UniProtKB/Swiss-Prot:

LCE5A_HUMAN :
  • Belongs to the LCE family.
Family:
  • Belongs to the LCE family.
genes like me logo Genes that share domains with LCE5A: view

Function for LCE5A Gene

Molecular function for LCE5A Gene

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

Phenotypes From GWAS Catalog for LCE5A Gene

Gene Ontology (GO) - Molecular Function for LCE5A 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 LCE5A: view
genes like me logo Genes that share phenotypes with LCE5A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LCE5A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LCE5A Gene

Localization for LCE5A 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 LCE5A gene
Compartment Confidence
plasma membrane 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 LCE5A Gene

Pathways & Interactions for LCE5A Gene

PathCards logo

SuperPathways for LCE5A Gene

genes like me logo Genes that share pathways with LCE5A: view

Pathways by source for LCE5A Gene

Gene Ontology (GO) - Biological Process for LCE5A 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 LCE5A: view

No data available for SIGNOR curated interactions for LCE5A Gene

Drugs & Compounds for LCE5A Gene

No Compound Related Data Available

Transcripts for LCE5A Gene

mRNA/cDNA for LCE5A Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 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 LCE5A

Alternative Splicing Database (ASD) splice patterns (SP) for LCE5A Gene

No ASD Table

Relevant External Links for LCE5A Gene

GeneLoc Exon Structure for
LCE5A

Expression for LCE5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LCE5A Gene

mRNA differential expression in normal tissues according to GTEx for LCE5A Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x31.2) and Skin - Not Sun Exposed (Suprapubic) (x20.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LCE5A

SOURCE GeneReport for Unigene cluster for LCE5A Gene:

Hs.516410

mRNA Expression by UniProt/SwissProt for LCE5A Gene:

Q5TCM9-LCE5A_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. Expression is observed in the heart.
genes like me logo Genes that share expression patterns with LCE5A: 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 LCE5A Gene

Orthologs for LCE5A Gene

Evolution for LCE5A Gene

ENSEMBL:
Gene Tree for LCE5A (if available)
TreeFam:
Gene Tree for LCE5A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LCE5A: view image
Alliance of Genome Resources:
Additional Orthologs for LCE5A

No data available for Orthologs for LCE5A Gene

Paralogs for LCE5A Gene

genes like me logo Genes that share paralogs with LCE5A: view

Variants for LCE5A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LCE5A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2105117 -- p.Cys40Tyr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LCE5A 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 LCE5A Gene

Variant ID Type Subtype PubMed ID
dgv415n100 CNV loss 25217958
esv2750810 CNV gain 17911159
esv2758970 CNV gain+loss 17122850
nsv524241 CNV loss 19592680

Variation tolerance for LCE5A Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LCE5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LCE5A
Leiden Open Variation Database (LOVD)
LCE5A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCE5A Gene

Disorders for LCE5A Gene

MalaCards: The human disease database

(2) MalaCards diseases for LCE5A Gene - From: COP

Disorder Aliases PubMed IDs
ankyloblepharon-ectodermal defects-cleft lip/palate
  • aec
irritant dermatitis
  • irritant contact dermatitis
- elite association - COSMIC cancer census association via MalaCards
Search LCE5A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LCE5A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LCE5A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LCE5A Gene

Publications for LCE5A Gene

  1. Common variants in the trichohyalin gene are associated with straight hair in Europeans. (PMID: 19896111) Medland SE … Martin NG (American journal of human genetics 2009) 3 40
  2. Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PMID: 19601998) Stemmler S … Hoffjan S (International journal of immunogenetics 2009) 3 40
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. 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
  5. 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

Products for LCE5A Gene

Sources for LCE5A Gene