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FLASH GENE

Symbol

DSC1

contributors: mct - updated : 08-11-2010

HGNC name	desmocollin 1
HGNC id	3035

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with DSC2, DSC3 and desmogleins DSG1, DSG2, DSG3
STRUCTURE	33.62 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see TTR

regionally located

clustered with DSC2,DSC3 and desmogleins DSG1, DSG2, DSG3

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024421 16 - 4220 NP_077739 100 894 - 2004 14673151 DSC1a variant is essential for assembly of the desmosomal plaque, a structure that connects desmosomes to the intermediate filament cytoskeleton of epithelial cells neither the DSC1a- nor the DSC1b-specific COOH-terminal cytoplasmic domain is required for establishing and maintaining desmosomal adhesion NM_004948 17 splicing 4270 NP_004939 93.8 840 - 2004 14673151 DSC1B neither the DSC1a- nor the DSC1b-specific COOH-terminal cytoplasmic domain is required for establishing and maintaining desmosomal adhesion

EXPRESSION

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 Digestive intestine large intestine colon       intestine small intestine       Skin/Tegument skin appendages hair follicle     Homo sapiens

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

cadherin domain

conjugated

GlycoP

HOMOLOGY

intraspecies

homolog to desmoglein DGIV/DGV

Homologene

FAMILY

desmosomal cadherin family of cell-cell adhesion molecules

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	plasma membrane,junction,gap
	plasma membrane,junction,desmosome

basic FUNCTION	required for cell adhesion and desmosome formation
	desmosomal cadherins exhibiting differentiation-specific patterns of expression in the epidermis
	transmembrane glycoprotein specifically synthesized in the inner root sheath of hair follicle and in the companion layer
	promotes the formation of intercellular adhesion complexes and the relative level of DSG1 and DSC1 expressed at the cell surface regulates this adhesive process
	play a critical role in the maintenance of tissue integrity in epithelia and cardiac muscle

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	compoenent of desmosome
	essential constituents of desmosomes, intercellular junctions

INTERACTION

DNA

RNA

small molecule

protein

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

cell & other

REGULATION

activated by

C/EBPalpha but not C/EBPbeta (differentially regulated by C/EBP (CCAAT/enhancer-binding protein) family members)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   with DSC1, were dramatically reduced in the upper most living layers of the epidermis in Netherton syndrome tumoral     --other   de novo expression in colorectal cancer

Susceptibility

to Alzheimer disease

Variant & Polymorphism other	polymorphism modulating AD susceptibility in a gender-specific manner

Candidate gene
Marker	autoantigen of the subcorneal pustular dermatosis type was identified as DSC1
Therapy target

ANIMAL & CELL MODELS