GPBP1L1

Chr 1

GC-rich promoter binding protein 1 like 1

Also known as: SP192

NCBI Gene: 60313 ENSG00000159592 UniProt: Q9HC44

GPBP1L1 encodes a protein that binds DNA and RNA and functions as a transcription factor regulating gene expression in the nucleus. Mutations cause autosomal recessive neurodevelopmental disorder with intellectual disability, seizures, and brain malformations. The gene is highly constrained against loss-of-function variants (LOEUF 0.488), suggesting complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity and RNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 0.49

Clinical Summary— GPBP1L1

⚡

Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

Explore recent and relevant literature in Research Assistant →