HAPSTR1

Chr 16

HUWE1 associated protein modifying stress responses

Also known as: C16orf72, PRO0149, TAPR1

NCBI Gene: 29035 ENSG00000182831 UniProt: Q14CZ0 OMIM: 621638

HAPSTR1 encodes a protein that negatively regulates p53-mediated stress response pathways and cellular responses to telomere erosion and DNA damage through interactions with the E3 ubiquitin ligase HUWE1. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.29), but no human diseases have been definitively associated with HAPSTR1 mutations to date. Given its critical role in DNA damage response and high constraint scores, pathogenic variants would likely cause severe developmental or neurological phenotypes.

OMIM ResearchSummary from RefSeq, UniProt

Enables ubiquitin protein ligase binding activity. Involved in negative regulation of signal transduction by p53 class mediator and regulation of cellular response to stress. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

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Mechanism