LORICRIN
entrez
4014
canonical
uniprot
P23490
canonical
ensembl
ENSG00000203782
resolver
ensp
ENSP00000357731
resolver
enst
ENST00000368742
resolver
genesymbol
LORICRIN
resolver
genesymbol_syn
LOR
resolver
genesymbol_syn
LRN
resolver
hgnc
HGNC:6663
resolver
uniprot
Q5T869
resolver
uniprot
Q5XKF8
resolver
uniprot_entry
LORI_HUMAN
resolver
uniprot_sec
Q5T869
resolver
uniprot_sec
Q5XKF8
resolver
amino_acid_sequence
MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGGGSSGSGCGYSGGGGYSGGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSGGGGSGCFSSGGGGSSGGGSGCFSSGGGGSSGGGSGCFSSGGGGFSGQAVQCQSYGGVSSGGSSGGGSGCFSSGGGGGSVCGYSGGGSGCGGGSSGGSGSGYVSSQQVTQTSCAPQPSYGGGSSGGGGSGGSGCFSSGGGGGSSGCGGGSSGIGSGCIISGGGSVCGGGSSGGGGGGSSVGGSGSGKGVPICHQTQQKQAPTWPSK
uniprot
proteins
disease_involvement
DISEASE: Vohwinkel syndrome with ichthyosis (VSI) [MIM:604117]: A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies. {ECO:0000269|PubMed:12072018, ECO:0000269|PubMed:12615358, ECO:0000269|PubMed:9326323}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Major keratinocyte cell envelope protein.
uniprot
proteins
mass_dalton
25761
uniprot
proteins
post_translational_modification
PTM: Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins.; PTM: Contains inter- or intramolecular disulfide-bonds. {ECO:0000305}.
uniprot
proteins
pubmed
10066784
uniprot
proteins
pubmed
12072018
uniprot
proteins
pubmed
12615358
uniprot
proteins
pubmed
1355480
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
2007607
uniprot
proteins
pubmed
9326323
uniprot
proteins
sequence_length
312
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleoplasm.
uniprot
proteins