PPP1R13L

Chr 19q13.32

protein phosphatase 1 regulatory subunit 13 like

Aliases:: RAI, IASPP
MANE:: ENST00000360957.10

OMIM: 607463 ↗NCBI: 10848 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PPP1R13L · Q8WUF5

v62025-08-01

Predicted Aligned Error matrix for PPP1R13L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.2/ 100

Low

828 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)9%
Low(50–70)9%
Very low(< 50)58%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Sudden death in young people
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
0.69
dilated cardiomyopathy
0.58
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
0.46
sudden cardiac arrest
0.39
multiple congenital anomalies/dysmorphic syndrome
0.34
orofacial cleft
0.34
hereditary disease
0.19
Abnormality of the cardiovascular system
0.19
subarachnoid hemorrhage
0.18
familial hyperlipidemia
0.14

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

RelA-associated inhibitor

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)