RGP1

Chr 9

RGP1 partner of RAB6A GEF complex

Also known as: KIAA0258

NCBI Gene: 9827 ENSG00000107185 UniProt: Q92546

RGP1 encodes a protein that forms a complex with RIC1 to function as a guanine nucleotide exchange factor, activating RAB6A to facilitate fusion of endosome-derived vesicles with the Golgi and participate in mannose-6-phosphate receptor recycling. Mutations cause autosomal recessive developmental delay with seizures, microcephaly, and movement abnormalities, typically presenting in early childhood. The gene is highly intolerant to loss-of-function variants, indicating that both functional copies are required for normal development.

ResearchSummary from RefSeq, UniProt

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in negative regulation of protein catabolic process; positive regulation of GTPase activity; and retrograde transport, endosome to Golgi. Located in cytosol and plasma membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.13

LOEUF

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Mechanism

Some data sources returned errors (1)