DSG3
entrez
1830
canonical
uniprot
P32926
canonical
ensembl
ENSG00000134757
resolver
ensp
ENSP00000257189
resolver
enst
ENST00000257189
resolver
genesymbol
DSG3
resolver
genesymbol_syn
CDHF6
resolver
hgnc
HGNC:3050
resolver
uniprot
A8K2V2
resolver
uniprot_entry
DSG3_HUMAN
resolver
uniprot_sec
A8K2V2
resolver
amino_acid_sequence
MMGLFPRTTGALAIFVVVILVHGELRIETKGQYDEEEMTMQQAKRRQKREWVKFAKPCREGEDNSKRNPIAKITSDYQATQKITYRISGVGIDQPPFGIFVVDKNTGDINITAIVDREETPSFLITCRALNAQGLDVEKPLILTVKILDINDNPPVFSQQIFMGEIEENSASNSLVMILNATDADEPNHLNSKIAFKIVSQEPAGTPMFLLSRNTGEVRTLTNSLDREQASSYRLVVSGADKDGEGLSTQCECNIKVKDVNDNFPMFRDSQYSARIEENILSSELLRFQVTDLDEEYTDNWLAVYFFTSGNEGNWFEIQTDPRTNEGILKVVKALDYEQLQSVKLSIAVKNKAEFHQSVISRYRVQSTPVTIQVINVREGIAFRPASKTFTVQKGISSKKLVDYILGTYQAIDEDTNKAASNVKYVMGRNDGGYLMIDSKTAEIKFVKNMNRDSTFIVNKTITAEVLAIDEYTGKTSTGTVYVRVPDFNDNCPTAVLEKDAVCSSSPSVVVSARTLNNRYTGPYTFALEDQPVKLPAVWSITTLNATSALLRAQEQIPPGVYHISLVLTDSQNNRCEMPRSLTLEVCQCDNRGICGTSYPTTSPGTRYGRPHSGRLGPAAIGLLLLGLLLLLLAPLLLLTCDCGAGSTGGVTGGFIPVPDGSEGTIHQWGIEGAHPEDKEITNICVPPVTANGADFMESSEVCTNTYARGTAVEGTSGMEMTTKLGAATESGGAAGFATGTVSGAASGFGAATGVGICSSGQSGTMRTRHSTGGTNKDYADGAISMNFLDSYFSQKAFACAEEDDGQEANDCLLIYDNEGADATGSPVGSVGCCSFIADDLDDSFLDSLGPKFKKLAEISLGVDGEGKEVQPPSKDSGYGIESCGHPIEVQQTGFVKCQTLSGSQGASALSTSGSVQPAVSIPDPLQHGNYLVTETYSASGSLVQPSTAGFDPLLTQNVIVTERVICPISSVPGNLAGPTQLRGSHTMLCTEDPCSRLI
uniprot
proteins
disease_involvement
DISEASE: Blistering, acantholytic, of oral and laryngeal mucosa (ABOLM) [MIM:619226]: An autosomal recessive disorder characterized by recurrent, suprabasal acantholytic blisters in the oral and laryngeal mucosa. Skin, conjunctival and genital mucosa, nail folds, and nails are unaffected. Normal structure is observed in the scalp epidermis and hair follicle. {ECO:0000269|PubMed:30528827}. Note=The disease may be 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 (PubMed:31835537). Required for adherens and desmosome junction assembly in response to mechanical force in keratinocytes (PubMed:31835537). Required for desmosome-mediated cell-cell adhesion of cells surrounding the telogen hair club and the basal layer of the outer root sheath epithelium, consequently is essential for the anchoring of telogen hairs in the hair follicle (PubMed:9701552). Required for the maintenance of the epithelial barrier via promoting desmosome-mediated intercellular attachment of suprabasal epithelium to basal cells (By similarity). May play a role in the protein stability of the desmosome plaque components DSP, JUP, PKP1, PKP2 and PKP3 (PubMed:22294297). Required for YAP1 localization at the plasma membrane in keratinocytes in response to mechanical strain, via the formation of an interaction complex composed of DSG3, PKP1 and YWHAG (PubMed:31835537). May also be involved in the positive regulation of YAP1 target gene transcription and as a result cell proliferation (PubMed:31835537). Positively regulates cellular contractility and cell junction formation via organization of cortical F-actin bundles and anchoring of actin to tight junctions, in conjunction with RAC1 (PubMed:22796473). The cytoplasmic pool of DSG3 is required for the localization of CDH1 and CTNNB1 at developing adherens junctions, potentially via modulation of SRC activity (PubMed:22294297). Inhibits keratinocyte migration via suppression of p38MAPK signaling, may therefore play a role in moderating wound healing (PubMed:26763450). {ECO:0000250|UniProtKB:O35902, ECO:0000269|PubMed:22294297, ECO:0000269|PubMed:22796473, ECO:0000269|PubMed:26763450, ECO:0000269|PubMed:31835537, ECO:0000269|PubMed:9701552}.
uniprot
proteins
mass_dalton
107533
uniprot
proteins
pubmed
11790773
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
16740002
uniprot
proteins
pubmed
1720352
uniprot
proteins
pubmed
18343367
uniprot
proteins
pubmed
19717567
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22294297
uniprot
proteins
pubmed
22796473
uniprot
proteins
pubmed
24220297
uniprot
proteins
pubmed
26763450
uniprot
proteins
pubmed
30528827
uniprot
proteins
pubmed
30949721
uniprot
proteins
pubmed
31835537
uniprot
proteins
pubmed
9701552
uniprot
proteins
sequence_length
999
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19717567, ECO:0000269|PubMed:30949721, ECO:0000269|PubMed:31835537}; Single-pass type I membrane protein {ECO:0000255}. Cell junction, desmosome {ECO:0000250|UniProtKB:O35902}. Cytoplasm {ECO:0000269|PubMed:22796473, ECO:0000269|PubMed:31835537}. Cell junction, tight junction {ECO:0000269|PubMed:22796473}. Cell junction {ECO:0000269|PubMed:18343367}.
uniprot
proteins
transmembrane_region
TRANSMEM 616..640; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins