SIT1

Chr 9

signaling threshold regulating transmembrane adaptor 1

Also known as: SIT, SIT-R

NCBI Gene: 27240 ENSG00000137078 UniProt: Q9NP91 OMIM: 604964

The SIT1 protein functions as a sodium- and chloride-dependent transporter that mediates uptake of imino acids like proline and pipecolate, as well as glycine, playing a key role in regulating proline and glycine homeostasis in the brain and modulating NMDAR currents. Mutations cause autosomal recessive intellectual developmental disorder with seizures and language delay, typically presenting in early childhood. This gene shows low constraint to loss-of-function variation, which is consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables kinase binding activity. Involved in regulation of T cell activation. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…