Gene: [17q21/JUP] junction plakoglobin (desmoplakin III); [DP3 DP DSP ]


FUN

Plakoglobin is a major cytoplasmic protein that occurs in a soluble and a membrane-associated form and is the only known constituent common to the submembranous plaques of both kinds of adhering junctions, the desmosomes and the intermediate junctions."

FAG

Plakoglobin associates with the cytoplasmic region of desmoglein I (GEM:18q121/DSG1), one of the transmembrane desmosomal proteins (Mathur-1994). It also is a component of the cadherin-catenin complex, which is predominantly localized where actin filaments anchor in adherens junction of epithelial cells (Knudsen-1992). Catenins are of central importance for cadherin function in that they mediate the connection of cadherins to actin filaments and are part of a higher order submembranous network by which cadherins are linked to other transmembrane and peripheral cytoplasmic proteins (Aberle-1995). Interaction of the cadherin-catenin complex with epidermal growth factor receptor (see GEM:07p12/EGFR1) and the finding that beta-catenin (GEM:03p213/CTNNB1) and plakoglobin are substrates for tyrosine phosphorylation following EGF stimulation of cells, together with the finding that catenins are associated with the tumor suppressor protein APC (GEM:05q2/APC), open the possibility that catenins are involved in signaling pathways and tumorigenesis."

REF

COD,LOC,EXP "Aberle H &: PNAS, 92, 6384-6388, 1995
COD,LOC,FAG "Arnemann &: Genomics, 10, 640-645, 1991
LOC "Cowley CME &: Hum Genet, 100, N3-4, 486-488, 1997
COD,SEQ,PEP,EVO "Franke WW &: PNAS, 86, 4027-4031, 1989
FUN "Knudsen KA, Wheelock MJ: J Cell Biol, 118, 671-679, 1992
FUN,MEB "Mathur M &: JBC, 269, 14075-14080, 1994

KEY

mem

CLA

coding, basic

LOC

17 q21

MIM

MIM: 173325

SYN

DP3 DP DSP

鸯铗痂蝈 蜞赕:

  • HUGEN-腻耢铒豚觇
  • HUGEN-想嚓钽腩徼