PPP1R13L
Domain
The N-terminal region is required for cytoplasmic localization.
The ANK repeats and the SH3 domain are required for specific interactions with p53/TP53.
Function
Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p53/TP53 function, possibly by preventing the association between p53/TP53 and ASPP1 or ASPP2, and therefore suppressing the subsequent activation of apoptosis (PubMed:12524540). Is involved in NF-kappa-B dependent negative regulation of inflammatory response (PubMed:28069640).
Involvement in disease
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
ARCME
An autosomal recessive disorder characterized by life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype, including wooly or wiry hair, wedged teeth, xerotic skin, and dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the iASPP family.
Tissue Specificity
Highly expressed in heart, placenta and prostate. Weakly expressed in brain, liver, skeletal muscle, testis and peripheral blood leukocyte.
Cellular localization
- Cytoplasm
- Nucleus
- Predominantly cytoplasmic but also nuclear.
Alternative names
IASPP, NKIP1, PPP1R13BL, RAI, PPP1R13L, RelA-associated inhibitor, Inhibitor of ASPP protein, NFkB-interacting protein 1, PPP1R13B-like protein, Protein iASPP