DSG1
entrez
1828
canonical
uniprot
Q02413
canonical
ensembl
ENSG00000134760
resolver
ensp
ENSP00000257192
resolver
genesymbol
DSG1
resolver
genesymbol_syn
CDHF4
resolver
hgnc
HGNC:3048
resolver
uniprot
B7Z845
resolver
uniprot_entry
DSG1_HUMAN
resolver
uniprot_sec
B7Z845
resolver
amino_acid_sequence
MDWSFFRVVAMLFIFLVVVEVNSEFRIQVRDYNTKNGTIKWHSIRRQKREWIKFAAACREGEDNSKRNPIAKIHSDCAANQQVTYRISGVGIDQPPYGIFVINQKTGEINITSIVDREVTPFFIIYCRALNSMGQDLERPLELRVRVLDINDNPPVFSMATFAGQIEENSNANTLVMILNATDADEPNNLNSKIAFKIIRQEPSDSPMFIINRNTGEIRTMNNFLDREQYGQYALAVRGSDRDGGADGMSAECECNIKILDVNDNIPYMEQSSYTIEIQENTLNSNLLEIRVIDLDEEFSANWMAVIFFISGNEGNWFEIEMNERTNVGILKVVKPLDYEAMQSLQLSIGVRNKAEFHHSIMSQYKLKASAISVTVLNVIEGPVFRPGSKTYVVTGNMGSNDKVGDFVATDLDTGRPSTTVRYVMGNNPADLLAVDSRTGKLTLKNKVTKEQYNMLGGKYQGTILSIDDNLQRTCTGTININIQSFGNDDRTNTEPNTKITTNTGRQESTSSTNYDTSTTSTDSSQVYSSEPGNGAKDLLSDNVHFGPAGIGLLIMGFLVLGLVPFLMICCDCGGAPRSAAGFEPVPECSDGAIHSWAVEGPQPEPRDITTVIPQIPPDNANIIECIDNSGVYTNEYGGREMQDLGGGERMTGFELTEGVKTSGMPEICQEYSGTLRRNSMRECREGGLNMNFMESYFCQKAYAYADEDEGRPSNDCLLIYDIEGVGSPAGSVGCCSFIGEDLDDSFLDTLGPKFKKLADISLGKESYPDLDPSWPPQSTEPVCLPQETEPVVSGHPPISPHFGTTTVISESTYPSGPGVLHPKPILDPLGYGNVTVTESYTTSDTLKPSVHVHDNRPASNVVVTERVVGPISGADLHGMLEMPDLRDGSNVIVTERVIAPSSSLPTSLTIHHPRESSNVVVTERVIQPTSGMIGSLSMHPELANAHNVIVTERVVSGAGVTGISGTTGISGGIGSSGLVGTSMGAGSGALSGAGISGGGIGLSSLGGTASIGHMRSSSDHHFNQTIGSASPSTARSRITKYSTVQYSK
uniprot
proteins
disease_involvement
DISEASE: Palmoplantar keratoderma 1, striate, focal, or diffuse (PPKS1) [MIM:148700]: A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. {ECO:0000269|PubMed:10332028, ECO:0000269|PubMed:12930313, ECO:0000269|PubMed:23524970, ECO:0000269|PubMed:34657339}. Note=The disease is caused by variants affecting the gene represented in this entry. The loss of DSG1 activity results in a loss of ERBIN-mediated recruitment of SHOC2, resulting in the prevalence of SHOC2-RAS complexes and activation of ERK signaling pathways. {ECO:0000269|PubMed:19157795, ECO:0000269|PubMed:23524970, ECO:0000269|PubMed:27534273}.; DISEASE: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (EPKHE) [MIM:615508]: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting. {ECO:0000269|PubMed:23974871, ECO:0000269|PubMed:25041099, ECO:0000269|PubMed:29604126, ECO:0000269|PubMed:34905516}. 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 (PubMed:19717567). Promotes differentiation of keratinocytes via interaction with ERBIN. Reduces activation of RAS/ERK signaling pathways in keratinocytes via promoting ERBIN localization to the cell membrane and its interaction with SHOC2, this competitively reduces the formation of RAS-SHOC2 ERK-activating complexes (PubMed:23524970). Mediates the interaction between the desmosome and COP9 signalosome complex (CSN) protein complex (PubMed:28891468). As a result of this interaction, promotes keratinocyte differentiation via deneddylation of EGFR resulting in a reduction in EGFR protein stabilization and translocation away from the cell membrane (PubMed:28891468). Critical for epidermal integrity and barrier function of the skin (By similarity). May mediate the inflammatory response in the epidermis (By similarity). Required for esophageal epithelial barrier integrity and correct intercellular spacing in differentiated esophageal epithelium (PubMed:24220297). Required for recovery of epidermal architecture and correct expression of differentiation markers following UVB exposure (PubMed:24594668). May also be required for OCLN involvement in tight junctions (By similarity). {ECO:0000250|UniProtKB:Q61495, ECO:0000269|PubMed:19717567, ECO:0000269|PubMed:23524970, ECO:0000269|PubMed:24220297, ECO:0000269|PubMed:24594668, ECO:0000269|PubMed:28891468, ECO:0000269|PubMed:34368962}.
uniprot
proteins
mass_dalton
113748
uniprot
proteins
post_translational_modification
PTM: (Microbial infection) Proteolytically processed by Staphylococcus aureus serine proteases eta, etb and etd (PubMed:12093888, PubMed:12880431). DSG1 is required to be bound to Ca2(+) for formation of its mature structural conformation and therefore for eta and etb cleavage (PubMed:12880431). {ECO:0000269|PubMed:12093888, ECO:0000269|PubMed:12880431}.
uniprot
proteins
pubmed
10332028
uniprot
proteins
pubmed
11790773
uniprot
proteins
pubmed
12093888
uniprot
proteins
pubmed
12880431
uniprot
proteins
pubmed
12930313
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
16740002
uniprot
proteins
pubmed
1711210
uniprot
proteins
pubmed
1770008
uniprot
proteins
pubmed
19136012
uniprot
proteins
pubmed
19157795
uniprot
proteins
pubmed
19717567
uniprot
proteins
pubmed
19759396
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23524970
uniprot
proteins
pubmed
23974871
uniprot
proteins
pubmed
24220297
uniprot
proteins
pubmed
24594668
uniprot
proteins
pubmed
25041099
uniprot
proteins
pubmed
26604139
uniprot
proteins
pubmed
26924733
uniprot
proteins
pubmed
27534273
uniprot
proteins
pubmed
28891468
uniprot
proteins
pubmed
29604126
uniprot
proteins
pubmed
34368962
uniprot
proteins
pubmed
34657339
uniprot
proteins
pubmed
34905516
uniprot
proteins
sequence_length
1049
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19717567, ECO:0000269|PubMed:24220297}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q7TSF1}. Cell junction, desmosome {ECO:0000269|PubMed:12093888, ECO:0000269|PubMed:23524970, ECO:0000269|PubMed:26604139, ECO:0000269|PubMed:28891468, ECO:0000269|PubMed:34368962, ECO:0000269|PubMed:34905516}. Cytoplasm {ECO:0000269|PubMed:23524970, ECO:0000269|PubMed:28891468, ECO:0000269|PubMed:34368962}. Nucleus {ECO:0000269|PubMed:34368962}.
uniprot
proteins
transmembrane_region
TRANSMEM 549..569; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins