DSG1 (desmoglein 1)

Gene

• Entrez ID: 1828
• Gene name: Desmoglein 1
• Gene symbol: DSG1
• Synonyms: CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515639	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs397515640	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397515641	A>T	Pathogenic	Coding sequence variant, stop gained
rs398122949	->C	Pathogenic	Frameshift variant, coding sequence variant
rs398122950	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122951	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398122952	G>A	Pathogenic	Splice acceptor variant
rs568609861	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs761241711	T>C,G	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057518788	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1182196436	C>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1568039793	G>A	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019462	hsa-miR-148b-3p	Microarray	17612493
MIRT945966	hsa-miR-1225-5p	CLIP-seq
MIRT945967	hsa-miR-1234	CLIP-seq
MIRT945968	hsa-miR-1245	CLIP-seq
MIRT945969	hsa-miR-1251	CLIP-seq
MIRT945970	hsa-miR-129-5p	CLIP-seq
MIRT945971	hsa-miR-1303	CLIP-seq
MIRT945972	hsa-miR-130a	CLIP-seq
MIRT945973	hsa-miR-130b	CLIP-seq
MIRT945974	hsa-miR-2355-3p	CLIP-seq
MIRT945975	hsa-miR-301a	CLIP-seq
MIRT945976	hsa-miR-301b	CLIP-seq
MIRT945977	hsa-miR-3666	CLIP-seq
MIRT945978	hsa-miR-380	CLIP-seq
MIRT945979	hsa-miR-4295	CLIP-seq
MIRT945980	hsa-miR-4495	CLIP-seq
MIRT945981	hsa-miR-454	CLIP-seq
MIRT945982	hsa-miR-4646-3p	CLIP-seq
MIRT945983	hsa-miR-4671-3p	CLIP-seq
MIRT945984	hsa-miR-4684-5p	CLIP-seq
MIRT945985	hsa-miR-548ag	CLIP-seq
MIRT945986	hsa-miR-548ai	CLIP-seq
MIRT945987	hsa-miR-549	CLIP-seq
MIRT1980024	hsa-miR-4269	CLIP-seq
MIRT1980025	hsa-miR-4514	CLIP-seq
MIRT1980026	hsa-miR-4692	CLIP-seq
MIRT1980027	hsa-miR-4742-5p	CLIP-seq
MIRT1980028	hsa-miR-510	CLIP-seq
MIRT1980024	hsa-miR-4269	CLIP-seq
MIRT1980025	hsa-miR-4514	CLIP-seq
MIRT1980026	hsa-miR-4692	CLIP-seq
MIRT1980027	hsa-miR-4742-5p	CLIP-seq
MIRT1980028	hsa-miR-510	CLIP-seq
MIRT2448542	hsa-miR-2467-3p	CLIP-seq
MIRT2448543	hsa-miR-4257	CLIP-seq
MIRT2448544	hsa-miR-4464	CLIP-seq
MIRT2448545	hsa-miR-4698	CLIP-seq
MIRT2448546	hsa-miR-4748	CLIP-seq
MIRT2448547	hsa-miR-885-3p	CLIP-seq
MIRT2448548	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	NAS	1770008
GO:0005515	Function	Protein binding	IPI	19136012, 24965446
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	7983064
GO:0007043	Process	Cell-cell junction assembly	NAS	12485422
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	7983064
GO:0015643	Function	Toxic substance binding	NAS	12582396
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	1770008
GO:0030057	Component	Desmosome	IBA	21873635
GO:0030057	Component	Desmosome	NAS	1711210
GO:0031424	Process	Keratinization	TAS
GO:0032570	Process	Response to progesterone	IEA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0045295	Function	Gamma-catenin binding	IBA	21873635
GO:0045295	Function	Gamma-catenin binding	IPI	7983064
GO:0050821	Process	Protein stabilization	IDA	7983064
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0070268	Process	Cornification	TAS
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	NAS	1711210
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

Other IDs

• MIM: 125670
• HGNC: 3048
• e!Ensembl: ENSG00000134760

Protein

• UniProt ID: Q02413
• Protein name: Desmoglein-1 (Cadherin family member 4) (Desmosomal glycoprotein 1) (DG1) (DGI) (Pemphigus foliaceus antigen)
• Protein function: Component of intercellular desmosome junctions (PubMed:34368962). Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion (PubMed:19717567). {ECO:0000269|PubMed:19717567, ECO:0000269|PubMed:34368962
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	54 → 148	Cadherin domain	Domain
  PF00028	Cadherin	162 → 260	Cadherin domain	Domain
  PF00028	Cadherin	274 → 377	Cadherin domain	Domain
  PF01049	Cadherin_C	641 → 765	Cadherin cytoplasmic region	Family

• Sequence:

  MDWSFFRVVAMLFIFLVVVEVNSEFRIQVRDYNTKNGTIKWHSIRRQKREWIKFAAACRE
  GEDNSKRNPIAKIHSDCAANQQVTYRISGVGIDQPPYGIFVINQKTGEINITSIVDREVT
  PFFIIYCRALNSMGQDLERPLELRVRVLDINDNPPVFSMATFAGQIEENSNANTLVMILN
  ATDADEPNNLNSKIAFKIIRQEPSDSPMFIINRNTGEIRTMNNFLDREQYGQYALAVRGS
  DRDGGADGMSAECECNIKILDVNDNIPYMEQSSYTIEIQENTLNSNLLEIRVIDLDEEFS
  ANWMAVIFFISGNEGNWFEIEMNERTNVGILKVVKPLDYEAMQSLQLSIGVRNKAEFHHS
  IMSQYKLKASAISVTVLNVIEGPVFRPGSKTYVVTGNMGSNDKVGDFVATDLDTGRPSTT
  VRYVMGNNPADLLAVDSRTGKLTLKNKVTKEQYNMLGGKYQGTILSIDDNLQRTCTGTIN
  INIQSFGNDDRTNTEPNTKITTNTGRQESTSSTNYDTSTTSTDSSQVYSSEPGNGAKDLL
  SDNVHFGPAGIGLLIMGFLVLGLVPFLMICCDCGGAPRSAAGFEPVPECSDGAIHSWAVE
  GPQPEPRDITTVIPQIPPDNANIIECIDNSGVYTNEYGGREMQDLGGGERMTGFELTEGV
  KTSGMPEICQEYSGTLRRNSMRECREGGLNMNFMESYFCQKAYAYADEDEGRPSNDCLLI
  YDIEGVGSPAGSVGCCSFIGEDLDDSFLDTLGPKFKKLADISLGKESYPDLDPSWPPQST
  EPVCLPQETEPVVSGHPPISPHFGTTTVISESTYPSGPGVLHPKPILDPLGYGNVTVTES
  YTTSDTLKPSVHVHDNRPASNVVVTERVVGPISGADLHGMLEMPDLRDGSNVIVTERVIA
  PSSSLPTSLTIHHPRESSNVVVTERVIQPTSGMIGSLSMHPELANAHNVIVTERVVSGAG
  VTGISGTTGISGGIGSSGLVGTSMGAGSGALSGAGISGGGIGLSSLGGTASIGHMRSSSD
  HHFNQTIGSASPSTARSRITKYSTVQYSK

• Sequence length: 1049

Pathways

KEGG:

Staphylococcus aureus infection

Reactome:

Apoptotic cleavage of cell adhesion proteins
Neutrophil degranulation
Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
Dermatitis	Dermatitis, Severe dermatitis, multiple allergies, metabolic wasting syndrome	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	23974871, 23974871, 27534273
Dermatitis-multiple allergies-metabolic wasting syndrome	Severe dermatitis-multiple allergies-metabolic wasting syndrome	rs398122952, rs398122400, rs1463828394
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Keratosis palmoplantaris striata	Keratosis palmoplantaris striata 1	rs121912991, rs727504443	27534273
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561

Unknown
Disease name	Disease term	dbSNP ID	References
Diffuse palmoplantar hyperkeratosis	Diffuse palmoplantar hyperkeratosis
Diffuse palmoplantar keratoderma with painful fissures	Diffuse palmoplantar keratoderma with painful fissures		15897387
Exfoliative dermatitis	Exfoliative dermatitis
Focal palmoplantar keratoderma with joint keratoses	Focal palmoplantar keratoderma with joint keratoses		16484817
Metabolic diseases	Metabolic Diseases	rs267607648	23974871
Palmoplantar keratosis	Palmoplantar Keratosis
Psoriasiform eczema	Psoriasiform eczema
Striate palmoplantar keratoderma	Striate palmoplantar keratoderma		19157795, 10332028