RANBP1

Chr 22

RAN binding protein 1

Also known as: HTF9A

NCBI Gene: 5902 ENSG00000099901 UniProt: P43487 OMIM: 601180

This protein regulates nucleocytoplasmic transport by forming complexes with RAN GTPase and controlling the movement of proteins and nucleic acids between the nucleus and cytoplasm, and is required for normal mitotic spindle assembly. Mutations cause autosomal dominant neurodevelopmental disorder with microcephaly, seizures, and brain malformations. The gene is highly constrained against loss-of-function variants, indicating intolerance to disruption.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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

0.47

LOEUF

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Mechanism