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MGP Database

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MGP000491

UniProt Annotations

Entry Information

Gene Name	cadherin 3, type 1, P-cadherin (placental)
Protein Entry	CADH3_HUMAN
UniProt ID	P22223
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22223-1; Sequence=Displayed; Name=2; IsoId=P22223-2; Sequence=VSP_024820; Note=No experimental confirmation available.;
Disease	Ectodermal dysplasia, with ectrodactyly and macular dystrophy (EEM) [MIM:225280]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly. {ECO:0000269\|PubMed:15805154}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553]: A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life. {ECO:0000269\|PubMed:11544476, ECO:0000269\|PubMed:12445216}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. {ECO:0000250}.
Function	Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.
Similarity	Contains 5 cadherin domains. {ECO:0000255\|PROSITE- ProRule:PRU00043}.
Subcellular Location	Cell membrane; Single-pass type I membrane protein.
Subunit	Interacts with CDCP1 and CTNNB1. {ECO:0000269\|PubMed:16007225, ECO:0000269\|PubMed:17052462}.
Tissue Specificity	Expressed in some normal epithelial tissues and in some carcinoma cell lines. {ECO:0000269\|PubMed:2702654}.
Web Resource	Name=Mutations of the CDH3 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cdh3mut.htm";