PERP
entrez
64065
canonical
uniprot
Q96FX8
canonical
ensembl
ENSG00000112378
resolver
ensp
ENSP00000397157
resolver
enst
ENST00000421351
resolver
genesymbol
PERP
resolver
genesymbol_syn
KCP1
resolver
genesymbol_syn
KRTCAP1
resolver
genesymbol_syn
PIGPC1
resolver
genesymbol_syn
THW
resolver
hgnc
HGNC:17637
resolver
uniprot
B2RB73
resolver
uniprot
E1P590
resolver
uniprot
Q8IWS3
resolver
uniprot
Q8N1J6
resolver
uniprot
Q8NC16
resolver
uniprot
Q9H1C5
resolver
uniprot
Q9H230
resolver
uniprot_entry
PERP_HUMAN
resolver
uniprot_sec
B2RB73
resolver
uniprot_sec
E1P590
resolver
uniprot_sec
Q8IWS3
resolver
uniprot_sec
Q8N1J6
resolver
uniprot_sec
Q8NC16
resolver
uniprot_sec
Q9H1C5
resolver
uniprot_sec
Q9H230
resolver
amino_acid_sequence
MIRCGLACERCRWILPLLLLSAIAFDIIALAGRGWLQSSDHGQTSSLWWKCSQEGGGSGSYEEGCQSLMEYAWGRAAAAMLFCGFIILVICFILSFFALCGPQMLVFLRVIGGLLALAAVFQIISLVIYPVKYTQTFTLHANPAVTYIYNWAYGFGWAATIILIGCAFFFCCLPNYEDDLLGNAKPRYFYTSA
uniprot
proteins
disease_involvement
DISEASE: Erythrokeratodermia variabilis et progressiva 7 (EKVP7) [MIM:619209]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP7 is an autosomal recessive form characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet, as well as erythematous annular skin lesions. Pruritus, woolly hair, and dystrophic nails may also be present. {ECO:0000269|PubMed:30321533, ECO:0000269|PubMed:31898316}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Olmsted syndrome 2 (OLMS2) [MIM:619208]: A form of Olmsted syndrome, a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. OLMS2 is an autosomal dominant form with onset in the first months of life or in early childhood. {ECO:0000269|PubMed:30321533, ECO:0000269|PubMed:31361044}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of intercellular desmosome junctions (By similarity). Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly (By similarity). Thereby plays a role in barrier function of the skin against infection (By similarity). Plays a role in mammary epithelial tissue homeostasis and remodeling during and after pregnancy, potentially via its involvement in desmosome cell-cell junctions (By similarity). Required for tooth enamel development via facilitating desmosome-mediated ameloblast adhesion to the stratum intermedium during the transitional stage of amelogenesis (By similarity). May also play a role in downstream transcriptional regulation of other genes involved in amelogenesis such as AMBN, ENAM, MMP20 and KLK4 (By similarity). Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity). Positively regulates apoptosis in T-helper 17 (Th17) cell populations via caspase-dependent signaling (By similarity). Promotes neutrophil transepithelial migration in response to chemoattractants such as hepoxilin A3 (HXA3), N-Formylmethionyl-leucyl-phenylalanine (fMLP) and CXCL8/IL-8 (PubMed:25486861). Required for neutrophil transepithelial migration in response to S.typhimurium infection (PubMed:25486861). May act as a positive regulator of endothelial cell apoptosis in response to blood flow-derived shear stress (By similarity). {ECO:0000250|UniProtKB:E9QHT9, ECO:0000250|UniProtKB:Q9JK95, ECO:0000269|PubMed:25486861}.
uniprot
proteins
mass_dalton
21386
uniprot
proteins
protein_family
TMEM47 family
uniprot
proteins
pubmed
11062687
uniprot
proteins
pubmed
12752121
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
25486861
uniprot
proteins
pubmed
27078059
uniprot
proteins
pubmed
30321533
uniprot
proteins
pubmed
31361044
uniprot
proteins
pubmed
31898316
uniprot
proteins
sequence_length
193
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, desmosome {ECO:0000250|UniProtKB:Q9JK95}. Cell membrane {ECO:0000269|PubMed:25486861, ECO:0000269|PubMed:30321533, ECO:0000269|PubMed:31898316}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:25486861}. Note=Associated with desmosomes (By similarity). Colocalizes with KRT14 in the cell membrane (PubMed:31898316). Clusters in a punctate pattern throughout the epithelial cytoplasm, in response to S.typhimurium infection (PubMed:25486861). {ECO:0000250|UniProtKB:Q9JK95, ECO:0000269|PubMed:25486861, ECO:0000269|PubMed:31898316}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..32; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 79..99; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 110..130; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 151..171; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins