Cell Junctions

Plakin Proteins, Genes & Expression Patterns
Human Information in BLUE --- Mouse Information in RED

Protein	Gene w/ Locus Link & Chromosome	Cell Locale & Binding Partners	Expression Pattern	Diseases with OMIM link & Mutants (see mutation table for more details)	Reference
ACF7 MACF	ACF7 1p32-p31 4 57.4 cM	cytoskeletal, focal contact actin, MT	brain, spinal cord, skelatal and cardiac muscle, skin, lung type II alveolar cells Bernier 1996, 2000		Leung 1999
BPAG1 -e/n/a/b BP230 (e) dystonin (n)	BPAG1 6p12-p11 1 16.5 cM	hemidesmosomal IF (e, n, b) actin (n, a, b) MT (a, b)	e: skin n: sensory axons a: brain & spinal cord b: heart, striated muscle Yang 1996, Leung 2001	Dystonia Musculorum Dst null mice develop severe dystonia and sensory nerve degeneration	Stanley 1988
Desmoplakin	DSP 6p24 13 19.0 cM	desmosomal IF, plakoglobin, DSC1, plakophilin	DP1 is found in all desmosomes. DP2 is found predominantly in tissues & cells of stratified origin and is absent from heart. DP1 & 2 are also found in endothelial cells lining capilliaries but not in larger blood vessels. Cowin 1983, 1985; Schmelz 1994a, 1994b	Striate palmoplantar keratoderma (SPPK) Dsp null mice die E6.5 from extra-embryonic tissue defects. Rescued embryos die E9.5 of heart, epidermal, vascular & neuroepithelial defects.	Green 1988
Envoplakin	EVPL 17q25 11 E1	cornified envelope IF, dimerize with periplakin	stratified squamous epithelia (epidermis from neonatal foreskin and adult breast, keratinized and nonkeratinized oral mucosa, oesophageal, and cervical mucosa) Ruhrberg 1996	Evpl null mice have delayed cornified envelope maturation, otherwise normal	Ruhrberg 1996
Epiplakin	EPPK1		epidermis, esophagus, eccrine sweat, parotid glands, stomach, colon Fujiwara 1996, 2001		Fujiwara 1996, 2001
Periplakin	PPL 16p13.3 16 4.4 cM	cornified envelope IF, dimerize with envoplakin	epithelium of mammary glands, urinary bladder, gastric mucosa; widespread expression esp. in trachea, lungs, kidney Ruhrberg 1997, Aho 1998		Ruhrberg 1997
Plectin HD1	PLEC1 8q24 15 44.0 cM	hemidesmosomal IF, actin	widespread expression Wiche 1983	Epidermolysis bullosa simplex and limb-girdle muscular dystrophy (MD-EBS) Ppl null mice die 2-3 days after birth with skin blistering	Wiche 1991