UniProt functional annotation for Q14126



	UniProt functional annotation for Q14126

UniProt code: Q14126.

Organism: Homo sapiens (Human).

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

Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

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

Tissue specificity: All of the tissues tested and carcinomas.

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: Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269|PubMed:16773573, ECO:0000269|PubMed:19863551, ECO:0000269|PubMed:20031617, ECO:0000269|PubMed:21062920}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Cardiomyopathy, dilated 1BB (CMD1BB) [MIM:612877]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:18678517}. Note=Disease susceptibility is associated with 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:		Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.


Subcellular location:		Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
Tissue specificity:		All of the tissues tested and carcinomas.
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:		Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269\|PubMed:16773573, ECO:0000269\|PubMed:19863551, ECO:0000269\|PubMed:20031617, ECO:0000269\|PubMed:21062920}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Cardiomyopathy, dilated 1BB (CMD1BB) [MIM:612877]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269\|PubMed:18678517}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.