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] Band 11p15.4 Start 6,621,330 bp [1] End 6,655,809 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 E3 Start 105,402,197 bp [2] End 105,436,861 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence myometrium gastric mucosa periodontal fiber seminal vesicula saphenous vein synovial membrane left uterine tube synovial joint stromal cell of endometrium Top expressed in internal carotid artery external carotid artery hand ganglionic eminence medial ganglionic eminence maxillary prominence foot molar vas deferens dermis More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane membrane plasma membrane apical part of cell intracellular anatomical structure 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 anatomical structure morphogenesis 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 NP_001156415 Location (UCSC) Chr 11: 6.62 – 6.66 Mb Chr 7: 105.4 – 105.44 Mb PubMed search [3] [4]
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. ^{[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]

References

1. GRCh38: Ensembl release 89: ENSG00000166341 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036862 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: dachsous 1 (Drosophila)".
6. 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.
7. "Mutations in the DCHS1 Gene Cause Mitral Valve Prolapse In Humans". Ashg.org. Archived from the original on 2013-10-29. Retrieved 2013-11-22.

Further reading

• Rose JE, Behm FM, Drgon T, et al. (2010). "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.