Protein-coding gene in the species Homo sapiens
| DCHS1 |
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| Identifiers |
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| Aliases | DCHS1, CDH19, CDH25, CDHR6, FIB1, PCDH16, VMLDS1, MVP2, dachsous cadherin-related 1 |
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| External IDs | OMIM: 603057; MGI: 2685011; HomoloGene: 2771; GeneCards: DCHS1; OMA:DCHS1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 11 (human)[1] |
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| | Band | 11p15.4 | Start | 6,621,330 bp[1] |
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| End | 6,655,809 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7|7 E3 | Start | 105,402,197 bp[2] |
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| End | 105,436,861 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - tendon of biceps brachii
- ganglionic eminence
- cartilage tissue
- ventricular zone
- myometrium
- body of uterus
- gastric mucosa
- periodontal fiber
- seminal vesicula
- saphenous vein
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| | Top expressed in | - internal carotid artery
- external carotid artery
- hand
- ganglionic eminence
- ventricular zone
- Rostral migratory stream
- genital tubercle
- tail of embryo
- mandibular prominence
- medial ganglionic eminence
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | | | 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 11: 6.62 – 6.66 Mb | Chr 7: 105.4 – 105.44 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000166341 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "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. 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.
