SNIP1 gene

Smad nuclear interacting protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA.

From NCBI Gene:

  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism

From UniProt:

Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED): A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. [MIM:614501]

Cytogenetic Location: 1p34.3, which is the short (p) arm of chromosome 1 at position 34.3

Molecular Location: base pairs 37,534,449 to 37,554,344 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p34.3, which is the short (p) arm of chromosome 1 at position 34.3