UniProt functional annotation for P22223



	UniProt functional annotation for P22223

UniProt code: P22223.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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.

Subunit: Interacts with CDCP1 and CTNNB1. {ECO:0000269|PubMed:16007225, ECO:0000269|PubMed:17052462}.

Subcellular location: Cell membrane; Single-pass type I membrane protein.

Tissue specificity: Expressed in some normal epithelial tissues and in some carcinoma cell lines. {ECO:0000269|PubMed:2702654}.

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}.

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 variants affecting the gene represented in this entry.

Disease: Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS) [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 variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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.


Subunit:		Interacts with CDCP1 and CTNNB1. {ECO:0000269\|PubMed:16007225, ECO:0000269\|PubMed:17052462}.
Subcellular location:		Cell membrane; Single-pass type I membrane protein.
Tissue specificity:		Expressed in some normal epithelial tissues and in some carcinoma cell lines. {ECO:0000269\|PubMed:2702654}.
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}.
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 variants affecting the gene represented in this entry.
Disease:		Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS) [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 variants affecting the gene represented in this entry.