Gene Gene information from NCBI Gene database.
Entrez ID 353137
Gene name Late cornified envelope 1F
Gene symbol LCE1F
Synonyms (NCBI Gene)
LEP6
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
6
miRTarBase ID miRNA Experiments Reference
MIRT1105554 hsa-miR-3622a-5p CLIP-seq
MIRT1105555 hsa-miR-4423-3p CLIP-seq
MIRT1105556 hsa-miR-767-3p CLIP-seq
MIRT2390077 hsa-miR-3125 CLIP-seq
MIRT2390078 hsa-miR-3916 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
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 Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612608 29467 ENSG00000240386
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T754
Protein name Late cornified envelope protein 1F (Late envelope protein 6)
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 63 Late cornified envelope Family
PF14672 LCE 52 118 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. Expression is observed in the fibro
Sequence
MSCQQSQQQCQPPPKCTPKCPPKCPTPKCPPKCPPKCPPVSSCCSVSSGGCCGSSSGGCC
SSG
GGGCCSSGGGGCCLSHHRRRRSHRHRPQSSDCCSQPSAGSSCCGGGSGQHSGGCC
Sequence length 118
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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