LCE1E (late cornified envelope 1E)

Gene

• Entrez ID: 353135
• Gene name: Late cornified envelope 1E
• Gene symbol: LCE1E
• Synonyms (NCBI Gene): LEP5
• Chromosome: 1
• Chromosome location: 1q21.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025640	hsa-miR-7-5p	Microarray	17612493
MIRT1105544	hsa-miR-31	CLIP-seq
MIRT1105545	hsa-miR-3925-3p	CLIP-seq
MIRT1105546	hsa-miR-4320	CLIP-seq
MIRT1105547	hsa-miR-4645-5p	CLIP-seq
MIRT1105548	hsa-miR-4673	CLIP-seq
MIRT1105549	hsa-miR-4696	CLIP-seq
MIRT1105550	hsa-miR-4742-5p	CLIP-seq
MIRT1105551	hsa-miR-488	CLIP-seq
MIRT1105552	hsa-miR-515-5p	CLIP-seq
MIRT1105553	hsa-miR-766	CLIP-seq
MIRT2029110	hsa-miR-1226	CLIP-seq
MIRT2029111	hsa-miR-3166	CLIP-seq
MIRT2029112	hsa-miR-4468	CLIP-seq
MIRT2029113	hsa-miR-4530	CLIP-seq
MIRT2029114	hsa-miR-634	CLIP-seq
MIRT2029115	hsa-miR-922	CLIP-seq
MIRT2029116	hsa-miR-939	CLIP-seq
MIRT2029110	hsa-miR-1226	CLIP-seq
MIRT2260089	hsa-miR-214	CLIP-seq
MIRT2029111	hsa-miR-3166	CLIP-seq
MIRT2260090	hsa-miR-3619-5p	CLIP-seq
MIRT2260091	hsa-miR-4291	CLIP-seq
MIRT2029113	hsa-miR-4530	CLIP-seq
MIRT2260092	hsa-miR-4691-3p	CLIP-seq
MIRT2029114	hsa-miR-634	CLIP-seq
MIRT2260093	hsa-miR-761	CLIP-seq
MIRT2029115	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0008544	Process	Epidermis development	IEA
GO:0031424	Process	Keratinization	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183

Other IDs

• MIM: 612607
• HGNC: 29466
• e!Ensembl: ENSG00000186226

Protein

• UniProt ID: Q5T753
• Protein name: Late cornified envelope protein 1E (Late envelope protein 5)
• Protein function: Precursors of the cornified envelope of the stratum corneum.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14672	LCE	27 → 61	Late cornified envelope	Family
  PF14672	LCE	57 → 118	Late cornified envelope	Family

• Tissue specificity: 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. {ECO:0000269|PubMed:15854049}.
• Sequence:

  MSCQQSQQQCQPPPKCTPKCPPKCPTPKCPPKCPPKCPPVSSCCSVSSGGCCGSSSGGSC
  GSSSGGCCSSGGGGCCLSHHRHHRSHRHRPQSSDCCSQPSGGSSCCGGGSGQHSGGCC

• Sequence length: 118

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18398047		★☆☆☆☆ Found in Text Mining only