ANKS1B Gene Summary [Human]
This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ANKS1B |
| Official Name | ankyrin repeat and sterile alpha motif domain containing 1B [Source:HGNC Symbol;Acc:HGNC:24600] |
| Ensembl ID | ENSG00000185046 |
| Bio databases IDs | |
| Aliases | ankyrin repeat and sterile alpha motif domain containing 1B |
| Synonyms | AIDA, AIDA-1, ANKS2, ankyrin repeat and sterile alpha motif domain containing 1B, ankyrin repeat and sterile α motif domain containing 1B, C030032C09Rik, cajalin-2, E530015N03Rik, EB-1, Gm10937, Gm1555, RGD1565556 |
| 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 ANKS1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sterile alpha motif
- Ankyrin repeats (many copies)
- SAM (Sterile alpha motif )
- SAM domain
- SAM domain (Sterile alpha motif)
- Ankyrin repeats (3 copies)
- ephrin receptor binding
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metabolic syndrome X
- acute myeloid leukemia
- bipolar I disorder
- COVID-19
- bipolar disorder
- schizophrenia
- insomnia
- amyotrophic lateral sclerosis
- attention deficit hyperactivity disorder
- major depression
role in cell
- survival
- synaptic transmission in
- maturation
- organization
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
- glutaminergic synapse
- organelle
- cell cortex
- Plasma Membrane
- centrosome
- nucleoplasm
- synapse
- postsynaptic density
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANKS1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ephrin receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- centrosome
- dendritic spine
- Cajal body
- cytosol
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ephrin receptor binding