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p53 apoptosis effector related to PMP-22; keratinocyte-associated protein 1; KCP-1; P53-induced protein PIGPC1; transmembrane protein THW (PERP, KCP1, KRTCAP1, PIGPC1, THW)
Function:
1) component of intercellular desmosome junctions
- promotes desmosome assembly
2) stratified epithelial integrity & cell-cell adhesion
3) effector in p53-dependent apoptotic pathway
Structure: belongs to the TMEM47 family
Compartment: associated with desmosomes
Alternative splicing: named isoforms=2
Expression:
- expressed in skin, heart, placental, liver, pancreas, keratinocytes, dermal fibroblasts
Related
apoptosis
cellular tumor antigen p53; tumor suppressor p53, phosphoprotein p53; antigen NY-CO-13 (TP53, p53)
keratinocytes-associated protein (KRTCAP)
peripheral myelin protein 22; PMP-22; growth arrest-specific protein 3; GAS-3 (PMP22, GAS3)
General
transmembrane 4 protein
Properties
SIZE: MW = 21 kD
entity length = 193 aa
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-11}
transmembrane domain {12-32}
exoplasmic loop {33-78}
transmembrane domain {79-99}
cytoplasmic loop {100-109}
transmembrane domain {110-130}
exoplasmic loop {131-150}
transmembrane domain {151-171}
cytoplasmic domain {172-193}
Database Correlations
OMIM 609301
UniProt Q96FX8
Pfam PF00822
Entrez Gene 64065
Kegg hsa:64065
References
UniProt :accession Q96FX8