DCHS1

Protein-coding gene in the species Homo sapiens

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; OMA:DCHS1 - orthologs
| 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

* tendon of biceps brachii

* ganglionic eminence

* cartilage tissue

* ventricular zone

* myometrium

* body of uterus

* gastric mucosa

* periodontal fiber

* seminal vesicula

* saphenous vein

| 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

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
| 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

[edit]

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

[edit]

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

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166341 - Ensembl, May 2017
2. ^ a b c 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. ^ a b "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 9199196.355-8&rft.date=1997-06&rft_id=info:doi/10.1006/bbrc.1997.6707&rft_id=info:pmid/9199196&rft.aulast=Matsuyoshi&rft.aufirst=N&rft.au=Imamura,+S&rfr_id=info:sid/en.wikipedia.org:DCHS1" class="Z3988">
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

[edit]

* 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 20379614.7–8&rft.pages=247-53&rft.date=2010&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896464#id-name=PMC&rft_id=info:pmid/20379614&rft_id=info:doi/10.2119/molmed.2009.00159&rft.aulast=Rose&rft.aufirst=JE&rft.au=Behm,+FM&rft.au=Drgon,+T&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896464&rfr_id=info:sid/en.wikipedia.org:DCHS1" class="Z3988">
* 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 11597768.1–2&rft.pages=85-95&rft.date=2001&rft_id=info:doi/10.1016/S0169-328X(01)00218-2&rft_id=info:pmid/11597768&rft.aulast=Nakajima&rft.aufirst=D&rft.au=Nakayama,+M&rft.au=Kikuno,+R&rfr_id=info:sid/en.wikipedia.org:DCHS1" class="Z3988">

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