DCHS1

DCHS1
Identifiers
Aliases	DCHS1, CDH19, CDH25, CDHR6, FIB1, PCDH16, VMLDS1, MVP2, dachsous cadherin-related 1
External IDs	MGI: 2685011 HomoloGene: 2771 GeneCards: DCHS1
Gene ontology Molecular function • calcium ion binding Cellular component • integral component of membrane • membrane • plasma 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 • 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 Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8642	233651
Ensembl	ENSG00000166341	ENSMUSG00000036862
UniProt	Q96JQ0	E9PVD3
RefSeq (mRNA)	NM_024542 NM_003737	NM_001162943
RefSeq (protein)	NP_003728.1	NP_001156415.1
Location (UCSC)	Chr 11: 6.62 – 6.66 Mb	Chr 7: 105.75 – 105.79 Mb
PubMed search	[1]	[2]
Wikidata

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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.^[3][4]

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.^[3]

Clinical significance

Mutations in this gene have been shown to cause mitral valve prolapse^[5]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: dachsous 1 (Drosophila)".
4. 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.
5. "Mutations in the DCHS1 Gene Cause Mitral Valve Prolapse In Humans". Ashg.org. Retrieved 2013-11-22.

Further reading

• Rose JE, Behm FM, Drgon T, et al. "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.". Mol. Med. 16 (7-8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Nakajima D, Nakayama M, Kikuno R, et al. (2001). "Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs.". Brain Res. Mol. Brain Res. 94 (1-2): 85–95. doi:10.1016/S0169-328X(01)00218-2. PMID 11597768.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.