SNIP1

Chr 1AR

Smad nuclear interacting protein 1

Also known as: NEDHCS, PML1, PMRED

NCBI Gene: 79753 ENSG00000163877 UniProt: Q8TAD8 OMIM: 608241

The SNIP1 protein functions as a transcriptional coactivator that modulates c-Myc, TGF-beta, and NF-kappa-B signaling pathways, and serves as a component of the spliceosome required for pre-mRNA splicing. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures. This condition involves the central nervous system and craniofacial development, with seizures and developmental delays as prominent features.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.501 OMIM phenotype

Clinical Summary— SNIP1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.

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