SERPINB8
entrez
5271
canonical
uniprot
P50452
canonical
ensembl
ENSG00000166401
resolver
ensp
ENSP00000331368
resolver
ensp
ENSP00000381072
resolver
ensp
ENSP00000381075
resolver
ensp
ENSP00000438328
resolver
ensp
ENSP00000489949
resolver
ensp
ENSP00000528520
resolver
enst
ENST00000636430
resolver
genesymbol
SERPINB8
resolver
genesymbol_syn
PI8
resolver
hgnc
HGNC:8952
resolver
uniprot
A0A1B0GU38
resolver
uniprot
B4DTW2
resolver
uniprot
Q7Z2V6
resolver
uniprot
Q8N178
resolver
uniprot_entry
A0A1B0GU38_HUMAN
resolver
uniprot_entry
SPB8_HUMAN
resolver
uniprot_sec
B4DTW2
resolver
uniprot_sec
Q7Z2V6
resolver
uniprot_sec
Q8N178
resolver
amino_acid_sequence
MDDLCEANGTFAISLFKILGEEDNSRNVFFSPMSISSALAMVFMGAKGSTAAQMSQALCLYKDGDIHRGFQSLLSEVNRTGTQYLLRTANRLFGEKTCDFLPDFKEYCQKFYQAELEELSFAEDTEECRKHINDWVAEKTEGKISEVLDAGTVDPLTKLVLVNAIYFKGKWNEQFDRKYTRGMLFKTNEEKKTVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVVEKALTYEKFKAWTNSEKLTKSKVQVFLPRLKLEESYDLEPFLRRLGMIDAFDEAKADFSGMSTEKNVPLSKVAHKCFVEVNEEGTEAAAATAVVRNSRCSRMEPRFCADHPFLFFIRHHKTNCILFCGRFSSP
uniprot
proteins
disease_involvement
DISEASE: Peeling skin syndrome 5 (PSS5) [MIM:617115]: A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive. {ECO:0000269|PubMed:27476651}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has an important role in epithelial desmosome-mediated cell-cell adhesion. {ECO:0000269|PubMed:27476651}.
uniprot
proteins
mass_dalton
42767
uniprot
proteins
protein_family
Ov-serpin subfamily
uniprot
proteins
protein_family
Serpin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
27476651
uniprot
proteins
pubmed
8530382
uniprot
proteins
sequence_length
374
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins