DSC3
entrez
1825
canonical
uniprot
Q14574
canonical
ensembl
ENSG00000134762
resolver
ensp
ENSP00000353608
resolver
ensp
ENSP00000392068
resolver
genesymbol
DSC3
resolver
genesymbol_syn
CDHF3
resolver
genesymbol_syn
DSC4
resolver
hgnc
HGNC:3037
resolver
uniprot
A6NN35
resolver
uniprot
Q14200
resolver
uniprot
Q9HAZ9
resolver
uniprot_entry
DSC3_HUMAN
resolver
uniprot_sec
A6NN35
resolver
uniprot_sec
Q14200
resolver
uniprot_sec
Q9HAZ9
resolver
amino_acid_sequence
MAAAGPRRSVRGAVCLHLLLTLVIFSRAGEACKKVILNVPSKLEADKIIGRVNLEECFRSADLIRSSDPDFRVLNDGSVYTARAVALSDKKRSFTIWLSDKRKQTQKEVTVLLEHQKKVSKTRHTRETVLRRAKRRWAPIPCSMQENSLGPFPLFLQQVESDAAQNYTVFYSISGRGVDKEPLNLFYIERDTGNLFCTRPVDREEYDVFDLIAYASTADGYSADLPLPLPIRVEDENDNHPVFTEAIYNFEVLESSRPGTTVGVVCATDRDEPDTMHTRLKYSILQQTPRSPGLFSVHPSTGVITTVSHYLDREVVDKYSLIMKVQDMDGQFFGLIGTSTCIITVTDSNDNAPTFRQNAYEAFVEENAFNVEILRIPIEDKDLINTANWRVNFTILKGNENGHFKISTDKETNEGVLSVVKPLNYEENRQVNLEIGVNNEAPFARDIPRVTALNRALVTVHVRDLDEGPECTPAAQYVRIKENLAVGSKINGYKAYDPENRNGNGLRYKKLHDPKGWITIDEISGSIITSKILDREVETPKNELYNITVLAIDKDDRSCTGTLAVNIEDVNDNPPEILQEYVVICKPKMGYTDILAVDPDEPVHGAPFYFSLPNTSPEISRLWSLTKVNDTAARLSYQKNAGFQEYTIPITVKDRAGQAATKLLRVNLCECTHPTQCRATSRSTGVILGKWAILAILLGIALLFSVLLTLVCGVFGATKGKRFPEDLAQQNLIISNTEAPGDDRVCSANGFMTQTTNNSSQGFCGTMGSGMKNGGQETIEMMKGGNQTLESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKLHRCNQNEDRMPSQDYVLTYNYEGRGSPAGSVGCCSEKQEEDGLDFLNNLEPKFITLAEACTKR
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis and recurrent skin vesicles (HRSV) [MIM:613102]: A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. {ECO:0000269|PubMed:19765682}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Required for cell-cell adhesion in the epidermis, as a result required for the maintenance of the dermal cohesion and the dermal barrier function (PubMed:19717567). Required for cell-cell adhesion of epithelial cell layers surrounding the telogen hair club, as a result plays an important role in telogen hair shaft anchorage (By similarity). Essential for successful completion of embryo compaction and embryo development (By similarity). {ECO:0000250|UniProtKB:P55850, ECO:0000269|PubMed:19717567}.
uniprot
proteins
mass_dalton
99969
uniprot
proteins
pubmed
11027496
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
19717567
uniprot
proteins
pubmed
19765682
uniprot
proteins
pubmed
31835537
uniprot
proteins
pubmed
7665906
uniprot
proteins
pubmed
7929347
uniprot
proteins
sequence_length
896
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19717567, ECO:0000269|PubMed:7665906}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, desmosome {ECO:0000250|UniProtKB:P55850}. Cytoplasm {ECO:0000250|UniProtKB:P55850}. Note=Expressed in the cytoplasm and at the cell membrane of oocytes. {ECO:0000250|UniProtKB:P55850}.
uniprot
proteins
transmembrane_region
TRANSMEM 691..711; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins