NELL1 Gene Summary [Human]
This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | NELL1 |
| Official Name | neural EGFL like 1 [Source:HGNC Symbol;Acc:HGNC:7750] |
| Ensembl ID | ENSG00000165973 |
| Bio databases IDs | |
| Aliases | neural EGFL like 1 |
| Synonyms | B230343H07RIK, IDH3GL, l7R6, NEL-like 1, neural EGFL like 1, NRP1 |
| 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 NELL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- von Willebrand factor type C domain
- LamG
- protein kinase C binding
- EGF domain
- coiled-coil domain
- protein binding
- heparin binding
- identical protein binding
- growth factor
- laminin G domain
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- epithelial cancer
- small cell lung cancer
- testicular cancer
- Crohn disease
- prostate cancer
- opioid dependence
- synostosis
- endometriosis
- uterine leiomyoma
role in cell
- proliferation
- apoptosis
- adhesion
- differentiation
- ossification by
- mineralization
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
- Cytoplasm
- perinuclear region
- nuclear envelope
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NELL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nervous system development
- cell differentiation
- regulation of gene expression
- negative regulation of protein catabolic process
- positive regulation of osteoblast differentiation
- regulation of osteoblast differentiation
- negative regulation of osteoblast proliferation
- positive regulation of bone mineralization
- positive regulation of ossification
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- extracellular space
- perinuclear region of cytoplasm
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase C binding
- protein binding
- calcium ion binding
- heparin binding