TP53INP1

Chr 8

tumor protein p53 inducible nuclear protein 1

Also known as: SIP, TP53DINP1, TP53INP1A, TP53INP1B, Teap, p53DINP1

NCBI Gene: 94241 ENSG00000164938 UniProt: Q96A56

TP53INP1 encodes a protein that regulates autophagy and transcription in response to cellular stress, functioning as an antioxidant and tumor suppressor that promotes cell death through autophagy-dependent mechanisms. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Predicted to enable antioxidant activity. Involved in autophagic cell death; positive regulation of DNA-templated transcription; and positive regulation of autophagy. Located in autophagosome; cytosol; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.38

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429