LIPN
entrez
643418
canonical
uniprot
Q5VXI9
canonical
ensembl
ENSG00000204020
resolver
ensp
ENSP00000383923
resolver
ensp
ENSP00000761333
resolver
enst
ENST00000404459
resolver
genesymbol
LIPN
resolver
genesymbol_syn
LIPL4
resolver
hgnc
HGNC:23452
resolver
uniprot
A7KIH9
resolver
uniprot_entry
LIPN_HUMAN
resolver
uniprot_sec
A7KIH9
resolver
amino_acid_sequence
MMWLLLTTTCLICGTLNAGGFLDLENEVNPEVWMNTSEIIIYNGYPSEEYEVTTEDGYILLVNRIPYGRTHARSTGPRPVVYMQHALFADNAYWLENYANGSLGFLLADAGYDVWMGNSRGNTWSRRHKTLSETDEKFWAFSFDEMAKYDLPGVIDFIVNKTGQEKLYFIGHSLGTTIGFVAFSTMPELAQRIKMNFALGPTISFKYPTGIFTRFFLLPNSIIKAVFGTKGFFLEDKKTKIASTKICNNKILWLICSEFMSLWAGSNKKNMNQSRMDVYMSHAPTGSSVHNILHIKQLYHSDEFRAYDWGNDADNMKHYNQSHPPIYDLTAMKVPTAIWAGGHDVLVTPQDVARILPQIKSLHYFKLLPDWNHFDFVWGLDAPQRMYSEIIALMKAYS
uniprot
proteins
disease_involvement
DISEASE: Ichthyosis, congenital, autosomal recessive 8 (ARCI8) [MIM:613943]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:21439540}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.1.13
uniprot
proteins
ec_number
3.1.1.3
uniprot
proteins
function
FUNCTION: Plays a highly specific role in the last step of keratinocyte differentiation. Contains two distinct domains: the alpha/beta hydrolase fold and the abhydrolase-associated lipase region, also features the consensus sequence of the active site of a genuine lipase. May have an essential function in lipid metabolism of the most differentiated epidermal layers. {ECO:0000269|PubMed:17562024}.
uniprot
proteins
mass_dalton
45534
uniprot
proteins
protein_family
AB hydrolase superfamily
uniprot
proteins
protein_family
Lipase family
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
17562024
uniprot
proteins
pubmed
21439540
uniprot
proteins
sequence_length
398
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
uniprot
proteins