UniProt functional annotation for Q02487



	UniProt functional annotation for Q02487

UniProt code: Q02487.

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. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.

Subunit: Interacts with DSP, PKP2 and JUP. {ECO:0000269|PubMed:21062920}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:21062920}; Single-pass type I membrane protein {ECO:0000269|PubMed:21062920}. Cell junction, desmosome {ECO:0000269|PubMed:21062920}.

Tissue specificity: Expressed in epithelia, myocardium and lymph nodes.

Domain: Calcium may be bound by the cadherin-like repeats. {ECO:0000305}.

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, 11 (ARVD11) [MIM:610476]: 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:17033975, ECO:0000269|PubMed:19863551, ECO:0000269|PubMed:21062920, ECO:0000269|PubMed:28256248}. Note=The disease is caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=CAA40141.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA40142.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

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. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.


Subunit:		Interacts with DSP, PKP2 and JUP. {ECO:0000269\|PubMed:21062920}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:21062920}; Single-pass type I membrane protein {ECO:0000269\|PubMed:21062920}. Cell junction, desmosome {ECO:0000269\|PubMed:21062920}.
Tissue specificity:		Expressed in epithelia, myocardium and lymph nodes.
Domain:		Calcium may be bound by the cadherin-like repeats. {ECO:0000305}.
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, 11 (ARVD11) [MIM:610476]: 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:17033975, ECO:0000269\|PubMed:19863551, ECO:0000269\|PubMed:21062920, ECO:0000269\|PubMed:28256248}. Note=The disease is caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=CAA40141.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA40142.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};