NBL1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NBL1 |
| Official Name | NBL1, DAN family BMP antagonist [Source:HGNC Symbol;Acc:HGNC:7650] |
| Ensembl ID | ENSG00000158747 |
| Bio databases IDs | |
| Aliases | NBL1, DAN family BMP antagonist, neuroblastoma candidate region, suppression of tumorigenicity 1, neuroblastoma suppressor of tumorigenicity 1, differential screening-selected gene aberrant in neuroblastoma |
| Synonyms | D1S1733E, D4H1S1733E, DAN, Dana, DAND1, N03, NB, NBL1, DAN family BMP antagonist, Neuroblastoma suppression of tumorigenicity 1, Neuroblastoma suppression of tumourigenicity 1, NO3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NBL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycoprotein hormone beta chain homologues
- morphogen
- cytokine binding
- protein binding
- identical protein binding
- DAN domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- Hutchinson-Gilford progeria syndrome
role in cell
- expression in
- migration
- differentiation
- morphogenesis
- chemotaxis by
- inhibition in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NBL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of BMP signaling pathway
- determination of dorsal identity
- negative regulation of monocyte chemotaxis
- sequestering of BMP from receptor via BMP binding
- signal transduction
- sequestering of BMP in extracellular matrix
- nervous system development
- neuron projection morphogenesis
- positive regulation of neuron differentiation
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- extracellular space
Molecular Function
What the gene product does at the molecular level
- BMP binding
- identical protein binding
- protein binding
- receptor agonist activity
- morphogen activity