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bullous pemphigoid antigen 1; trabeculin-beta; hemidesmosomal plaque protein; dystonia musculorum protein (DST, BPAG1, DMH, DT, KIAA0728)
Function:
- cytoskeletal linker protein
- anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes
- the proteins may self-aggregate to form filaments or a two-dimensional mesh
Structure:
- homodimer
- belongs to the plakin or cytolinker family
- contains 1 actin-binding domain (isoforms 1,2,3,4,5,8)
- contains 2 CH (calponin-homology) domains (isoforms 1,2,3,4,5,8)
- contains 2 EF-hand domains (isoforms 6,9,10)
- contains 11 plectin repeats (isoforms 1,2,3,4,5,8); 8 plectin repeats (isoform 7)
- contains 1 SH3 domain
- contains 4 spectrin repeats (isoforms 1,2,3,4,5,7,8); 29 spectrin repeats (isoforms 6,9,10)
Compartment:
- cytoplasm, cytoskeleton
- localizes to inner surface of hemidesmosomes
- component of basement membrane of skin Alternative
- splicing: named isoforms=10
- isoforms 1, 2, 5 & 8 are or may be fragments
Expression:
- highly expressed in skeletal muscle & cultured keratinocytes
Pathology:
- autoantigen in bullous pemphigoid
Notes:
- may have similarities with desmoplakin-1
Related
bullous pemphigoid; parapemphigus
General
antigen
Ca+2 binding protein
cytoskeletal protein
phosphoprotein
Properties
COMPARTMENT: cytoplasm
MOTIF: phosphorylation site
Ca+2-binding site
Database Correlations
OMIM correlations
UniProt Q03001
PFAM correlations
Entrez Gene 667
References
- UniProt :accession Q03001
- UniProt :accession O94833
- UniProt :accession Q8WXK8