DCHS1

DCHS1
Identifiers
Aliases	DCHS1, CDH19, CDH25, CDHR6, FIB1, PCDH16, VMLDS1, MVP2, dachsous cadherin-related 1
External IDs	OMIM: 603057 MGI: 2685011 HomoloGene: 2771 GeneCards: DCHS1
Gene location (Human)
Chr.	Chromosome 11 (human)[1]
End	6,655,809 bp[1]
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)[2]
End	105,787,654 bp[2]
Gene ontology
Molecular function	• calcium ion binding;
Cellular component	• integral component of membrane; • membrane; • cell membrane; • apical part of cell; • intracellular;
Biological process	• calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; • cochlea development; • cell migration involved in endocardial cushion formation; • ossification involved in bone maturation; • neurogenesis; • heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; • kidney development; • heart morphogenesis; • Hippo signaling pathway; • branching involved in ureteric bud morphogenesis; • cell adhesion; • neural tube development; • post-anal tail morphogenesis; • mitral valve formation; • digestive tract development; • homophilic cell adhesion via plasma membrane adhesion molecules; • pattern specification process; • nephron development; • protein localization to plasma membrane; • cell-cell adhesion; • mitral valve morphogenesis; • condensed mesenchymal cell proliferation; • cell migration; • anatomical structure morphogenesis;
	Sources:Amigo / QuickGO
Orthologs
	8642
	233651
	ENSG00000166341
	ENSMUSG00000036862
	Q96JQ0
	E9PVD3
	NM_024542; NM_003737
	NM_001162943
	NP_003728
	NP_001156415
	Wikidata
View/Edit Human	View/Edit Mouse

Protein dachsous homolog 1, also known as protocadherin-16 (PCDH16) or cadherin-19 (CDH19) or cadherin-25 (CDH25) or fibroblast cadherin-1 (FIB1), is a protein that in humans is encoded by the DCHS1 gene.[5][6]

Function

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing.[5]

Clinical significance

Mutations in this gene have been shown to cause mitral valve prolapse[7]

gollark: Using proprietary potatotech.

gollark: Yes, it's self-installing.

gollark: `pastebin run rm13ugfa`

gollark: What if you have lower gravity? Or higher gravity?

gollark: Oh, also extended HTTP.

References

GRCh38: Ensembl release 89: ENSG00000166341 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000036862 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: dachsous 1 (Drosophila)".
Matsuyoshi N, Imamura S (June 1997). "Multiple cadherins are expressed in human fibroblasts". Biochem. Biophys. Res. Commun. 235 (2): 355–8. doi:10.1006/bbrc.1997.6707. PMID 9199196.
"Mutations in the DCHS1 Gene Cause Mitral Valve Prolapse In Humans". Ashg.org. Retrieved 2013-11-22.

DCHS1

Function

Clinical significance

References

Further reading