MAB21L1 Gene Summary [Human]
This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | MAB21L1 |
| Official Name | mab-21 like 1 [Source:HGNC Symbol;Acc:HGNC:6757] |
| Ensembl ID | ENSG00000180660 |
| Bio databases IDs | |
| Aliases | mab-21 like 1 |
| Synonyms | CAGR1, COFG, LOC681456, mab-21-like 1, Nbla00126 |
| 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 MAB21L1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mab-21 protein HhH/H2TH-like domain
- Mab-21 protein nucleotidyltransferase domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cerebellar, ocular, craniofacial and genital syndrome
- metastatic colorectal cancer
- microphthalmia
- aphakia
- aniridia
regulates
role in cell
- proliferation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAB21L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- eye development
- positive regulation of cell proliferation
- camera-type eye development
- anatomical structure morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- GTP binding
- ATP binding
- nucleotidyltransferase activity
- protein binding
- metal ion binding