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