SGIP1

Chr 1

SH3GL interacting endocytic adaptor 1

NCBI Gene: 84251 ENSG00000118473 UniProt: Q9BQI5

SGIP1 encodes a protein that functions in clathrin-mediated endocytosis and is required for transferrin receptor endocytosis, with additional roles in energy homeostasis regulation through receptor signaling pathways. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]

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)

—

P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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