InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DSC3

Summary

InnateDB Protein

IDBP-1905.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DSC3

Protein Name

desmocollin 3

Synonyms

CDHF3; DSC; DSC1; DSC2; DSC4; HT-CP;

Species

Homo sapiens

Ensembl Protein

ENSP00000353608

InnateDB Gene

IDBG-1901 (DSC3)

Protein Structure

UniProt Annotation

Function

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.

Disease Associations

Hypotrichosis and recurrent skin vesicles (HRSV) [MIM:613102]: A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. {ECO:0000269PubMed:19765682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Epidermis, buccal mucosa, esophagus and cervix.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0045295	gamma-catenin binding

Biological Process

GO:0001701	in utero embryonic development
GO:0007155	cell adhesion
GO:0007156	homophilic cell adhesion
GO:0050821	protein stabilization

Cellular Component

GO:0005576	extracellular region
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005911	cell-cell junction
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030057	desmosome

Protein Structure and Domains

PDB ID

InterPro

IPR000233 Cadherin, cytoplasmic domain
IPR002126 Cadherin
IPR009122 Desmosomal cadherin
IPR009124 Cadherin/Desmocollin
IPR014868 Cadherin prodomain
IPR015919 Cadherin-like

PFAM

PF01049
PF00028
PF08758

PRINTS

PR00205
PR01818
PR01820

PIRSF

SMART

SM00112
SM01055

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt