PRAP1

Chr 10

proline rich acidic protein 1

Also known as: PRO1195, UPA

NCBI Gene: 118471 ENSG00000165828 UniProt: Q96NZ9 OMIM: 609776

PRAP1 encodes a lipid-binding protein that facilitates triglyceride and phospholipid transfer and promotes apolipoprotein B lipoprotein assembly and secretion, while also protecting epithelial cells from DNA damage-induced apoptosis. The gene shows low constraint to loss-of-function variation (pLI = 0.03, LOEUF = 1.26), suggesting haploinsufficiency is likely tolerated. No established Mendelian diseases have been definitively associated with PRAP1 mutations in current medical literature.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable triglyceride binding activity. Involved in DNA damage response, signal transduction by p53 class mediator; deactivation of mitotic spindle assembly checkpoint; and negative regulation of apoptotic process. Predicted to be located in endoplasmic reticulum and extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.26

LOEUF

Multiple*

Mechanism· predicted