RALBP1

Chr 18

ralA binding protein 1

Also known as: RIP1, RLIP1, RLIP76

NCBI Gene: 10928 ENSG00000017797 UniProt: Q15311

RALBP1 encodes a multifunctional protein that acts as a downstream effector of RAL GTPases, functioning as a GTPase-activating protein for CDC42 and RAC1, regulating receptor-mediated endocytosis, and controlling mitochondrial fission during mitosis. The gene shows high constraint against loss-of-function variants (LOEUF 0.449), but no established human disease associations have been reported for RALBP1 mutations based on the provided information.

ResearchSummary from RefSeq, UniProt

RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]

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

0.45

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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