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FLASH GENE

Symbol

DSG1

contributors: mct - updated : 16-12-2016

HGNC name	desmoglein 1
HGNC id	3048

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PPKS1 palmoplantar keratoderma (hyperkeratosis) striata, focal
Location	18q12.1      Physical location : 28.898.051 - 28.937.391
Synonym name	desmosomal glycoprotein 1
	pemphigus foliaceus and herpetiform pemphigus autoantigen
	pemphigus foliaceus antigen
Synonym symbol(s)	DG1, DSG, CDHF4, DGI, PPKS1, SPPK1

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with DSC1, DSC2, DSC3 and desmogleins DSG2, DSG3
STRUCTURE	39.34 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	qter - 5' - DSG2 - DSG3 - DSG1 - 3' - cen
Authors	Simrak (95)
Text	see TTR

regionally located

clustered with DSG2, DSG3 and desmocollins DSC1, DSC2, DSC3

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001942 15 - 5447 NP_001933 - 1049 - 1999 10456343

EXPRESSION

Rna function	mRNA of the DSG1 gene is present in normal thymus
Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive esophagus           intestine small intestine         mouth tongue         pharynx         Skin/Tegument skin         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis stratum basale   Epithelial barrier/lining epidermis stratum spinosum

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four extracellular cadherin repeats
	a transmembrane domain (TH1), flanked an extracellular and an intracellular anchor domain
	an intracellular cadherin-like sequence
	a proline-rich linker domain
	a desmoglein-specific repeat unit
	a C terminal domain

conjugated

GlycoP

isoforms

Precursor

a N terminal signal and prosequences

HOMOLOGY

Homologene

FAMILY

cadherin superfamily of calcium dependent cell-adhesion molecule

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane,junction,desmosome
text	localized on corneodesmosomes involved in adhesion

basic FUNCTION	required for cell adhesion
	key protein in desmosome structure and function in the epidermis
	desmoglein 1 as a previously unrecognized regulator of apoptosis in keratinocytes
	promotes the formation of intercellular adhesion complexes and the relative level of DSG1 and DSC1 expressed at the cell surface regulates this adhesive process
	not only required for maintaining epidermal tissue integrity in the superficial layers but also supports keratinocyte differentiation and suprabasal morphogenesis
	required for suppression of epidermal growth factor receptor-Erk1/2 (extracellular signal-regulated kinase 1/2) signaling, thereby facilitating keratinocyte progression through a terminal differentiation program
	promotes keratinocyte differentiation by attenuating MAPK/ERK signaling and is linked to striate palmoplantar keratoderma (SPPK)

CELLULAR PROCESS	cell life, cell death/apoptosis
	cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

major component of corneodesmosomes

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	interacting with DSC3 (displayed heterophilic interaction with DSG1 but not with DSG3)
	plakoglobin, but normally not CTNNB1, is also a structural constituent of desmosomes, where it binds to the cytoplasmic domains of the desmosomal cadherins, desmogleins and desmocollins
	KLK5 interacting with DSG1 (KLK5 action may destabilize DSG1 structure and abolish adhesion to desmocollins on neighboring cells)
	ERBIN (also known as ERBB2IP), a known ERK regulator, binds DSG1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PPKS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   associated with a worse prognosis in head and neck squamous cell carcinoma constitutional     --low   with DSC1, were dramatically reduced in the upper most living layers of the epidermis in Netherton syndrome constitutional       loss of function analysis of epidermis from DSG1-deficient patients with striate palmoplantar keratoderma (SPPK) demonstrated increased RAS-SHOC2 colocalization and decreased ERBIN-SHOC2 colocalization, offering a possible explanation for the observed epidermal defects

Susceptibility

to pemphigus foliaceus

Variant & Polymorphism

Candidate gene
Marker	target autoantigen of pathogenic autoantibodies produced by pemphigus foliaceus and 50p100 of pemphigus vulgaris patients in a DSG1-specific T-cell-dependent pathway
Therapy target

ANIMAL & CELL MODELS