InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DCHS1

Summary

InnateDB Protein

IDBP-29547.5

Last Modified

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

Gene Symbol

DCHS1

Protein Name

dachsous 1 (Drosophila)

Synonyms

CDH19; CDH25; CDHR6; FIB1; PCDH16; VMLDS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000299441

InnateDB Gene

IDBG-29545 (DCHS1)

Protein Structure

UniProt Annotation

Function

Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation.

Subcellular Localization

Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=In the embryonic cortex, FAT4 and DCHS1 accumulated at the cell-cell boundaries located apical to the adherens junction. {ECO:0000250}.

Disease Associations

Van Maldergem syndrome 1 (VMLDS1) [MIM:601390]: An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. {ECO:0000269PubMed:24056717}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in fibroblasts but not in melanocytes or keratinocytes. {ECO:0000269PubMed:9199196}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding

Biological Process

GO:0001658	branching involved in ureteric bud morphogenesis
GO:0001822	kidney development
GO:0003007	heart morphogenesis
GO:0007156	homophilic cell adhesion
GO:0007157	heterophilic cell-cell adhesion
GO:0016339	calcium-dependent cell-cell adhesion
GO:0021915	neural tube development
GO:0022008	neurogenesis
GO:0035329	hippo signaling
GO:0036342	post-anal tail morphogenesis
GO:0043931	ossification involved in bone maturation
GO:0048565	digestive tract development
GO:0090102	cochlea development