ASPRV1
entrez
151516
canonical
uniprot
Q53RT3
canonical
ensembl
ENSG00000244617
resolver
ensembl
ENSG00000293615
resolver
genesymbol
ASPRV1
resolver
genesymbol_syn
SASP
resolver
hgnc
HGNC:26321
resolver
uniprot
Q8N5P2
resolver
uniprot
Q96LT3
resolver
uniprot
Q96N43
resolver
uniprot_entry
APRV1_HUMAN
resolver
uniprot_sec
Q8N5P2
resolver
uniprot_sec
Q96LT3
resolver
uniprot_sec
Q96N43
resolver
amino_acid_sequence
MGSPGASLGIKKALQSEQATALPASAPAVSQPTAPAPSCLPKAGQVIPTLLREAPFSSVIAPTLLCGFLFLAWVAAEVPEESSRMAGSGARSEEGRRQHAFVPEPFDGANVVPNLWLHSFEVINDLNHWDHITKLRFLKESLRGEALGVYNRLSPQDQGDYGTVKEALLKAFGVPGAAPSHLPKEIVFANSMGKGYYLKGKIGKVPVRFLVDSGAQVSVVHPNLWEEVTDGDLDTLQPFENVVKVANGAEMKILGVWDTAVSLGKLKLKAQFLVANASAEEAIIGTDVLQDHNAILDFEHRTCTLKGKKFRLLPVGGSLEDEFDLELIEEDPSSEEGRQELSH
uniprot
proteins
disease_involvement
DISEASE: Ichthyosis, lamellar, autosomal dominant (ADLI) [MIM:146750]: An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus. {ECO:0000269|PubMed:32516568}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.23.-
uniprot
proteins
function
FUNCTION: Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization. {ECO:0000269|PubMed:32516568}.
uniprot
proteins
mass_dalton
36991
uniprot
proteins
mutagenesis
MUTAGEN 212; /note="D->A,E: Abolishes production of active form of enzyme."; /evidence="ECO:0000269|PubMed:16098038
uniprot
proteins
post_translational_modification
PTM: Undergoes autocleavage which is necessary for activation of the protein. {ECO:0000269|PubMed:16098038}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16098038
uniprot
proteins
pubmed
16565508
uniprot
proteins
pubmed
32516568
uniprot
proteins
sequence_length
343
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 56..76; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins