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

More general terms

• cytoskeletal protein
• antigen
• phosphoprotein
• Ca+2 binding protein

Additional terms

• bullous pemphigoid; parapemphigus

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=667
• OMIM: https://mirror.omim.org/entry/113810
• OMIM: https://mirror.omim.org/entry/600088
• UniProt: http://www.uniprot.org/uniprot/Q03001.html