RBCC Red Blood Cell Collection

PLAK_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: JUP , CTNNG, DP3
Protein names and data: PLAK_HUMAN , Junction plakoglobin , Catenin gamma; Desmoplakin III; Desmoplakin-3 Lenght: 745 a.a.
Mass: 81745 Da
fasta formatted sequence
Function: Common junctional plaque protein. The membrane- associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).
Disease: ( OMIM: 173325 601214 611528 ) Naxos disease (NXD) [MIM:601214]: An autosomal recessive disorder characterized by the association of diffuse non- epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry. Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell junction, adherens junction. Cell junction, desmosome. Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Note=Cytoplasmic in a soluble and membrane- associated form.

Genetic variants

19 - 19 T -> I (in ARVD12). VAR_065698
39 - 39 S -> SS (in ARVD12; affects the structure and distribution of mechanical and electrical cell junctions). VAR_037803
142 - 142 R -> H (in dbSNP:rs41283425). VAR_065699 41283425
648 - 648 V -> I (in dbSNP:rs143043662). VAR_065700 143043662
697 - 697 M -> L (in dbSNP:rs1126821). VAR_037804 1126821

Database cross-references

UniProt: P14923
Ensembl: ENST00000310706
Ensembl: ENST00000393930
Ensembl: ENST00000393931
Ensembl: ENST00000562805
Ensembl: ENST00000565220
Ensembl: ENST00000565780
MIM: 173325
MIM: 601214
MIM: 611528
neXtProt: NX_P14923
Antibodypedia: P14923 (may not find the protein thus also not any antibody)
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