SNIP1 Antibody – Rabbit Polyclonal

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]

Function: 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. Ref.4 Ref.6 Ref.9 Ref.10

Subunit structure: Binds SMAD4 and CREBBP/EP300. Binds the SMAD1/OAZ1/PSMB4 complex. Interacts with DROSHA and SMARCA4. Component of the SNARP complex which consists at least of SNIP1, SNW1, THRAP3, BCLAF1 and PNN. Ref.1 Ref.4 Ref.5 Ref.6 Ref.9 Ref.10

Subcellular location: Nucleus Ref.1.

Tissue specificity: Ubiquitous, with highest expression in heart and skeletal muscle. Ref.1

Post-translational modification: Degraded by the proteasome upon binding to the SMAD1/OAZ1/PSMB4 complex.

Involvement in disease: Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15

Sequence similarities: Contains 1 FHA domain.