Gene Gene information from NCBI Gene database.
Entrez ID 353133
Gene name Late cornified envelope 1C
Gene symbol LCE1C
Synonyms (NCBI Gene)
LEP3
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
32
miRTarBase ID miRNA Experiments Reference
MIRT2029094 hsa-miR-1299 CLIP-seq
MIRT2029095 hsa-miR-378 CLIP-seq
MIRT2029096 hsa-miR-378b CLIP-seq
MIRT2029097 hsa-miR-378c CLIP-seq
MIRT2029098 hsa-miR-378d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0008544 Process Epidermis development IEA
GO:0031424 Process Keratinization IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612605 29464 ENSG00000197084
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T751
Protein name Late cornified envelope protein 1C (Late envelope protein 3)
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
G
SSSGGCCSSGGGGCCLSHHRRRRSHCHRPQSSGCCSQPSGGSSCCGGGSGQHSGGCC
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.).
4
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 18369459 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 18369459 Associate
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease Pubtator 18369459 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 18369459 Associate
★☆☆☆☆
Found in Text Mining only
Graves Disease Graves disease Pubtator 18369459 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 16762576
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 16762576, 18725053, 29893028
★☆☆☆☆
Found in Text Mining only
Psoriasis Psoriasis Pubtator 18369459, 20643763 Associate
★☆☆☆☆
Found in Text Mining only