Aliases for NBL1 Gene
External Ids for NBL1 Gene
Previous GeneCards Identifiers for NBL1 Gene
This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants have been identified for this gene. Read-through transcripts between this locus and the upstream mitochondrial inner membrane organizing system 1 gene (GeneID 440574) have been observed. [provided by RefSeq, May 2013]
GeneCards Summary for NBL1 Gene
NBL1 (Neuroblastoma 1, DAN Family BMP Antagonist) is a Protein Coding gene. Diseases associated with NBL1 include Dyskeratosis Congenita, Autosomal Recessive 6 and Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4. Among its related pathways are TGF-beta Signaling Pathway (sino) and TGF-beta signaling pathway (KEGG). GO annotations related to this gene include protein homodimerization activity and morphogen activity. An important paralog of this gene is MINOS1-NBL1.
UniProtKB/Swiss-Prot for NBL1 Gene
Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process.