ANKS1B
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ankyrin repeat and sterile alpha motif domain containing 1B | MIM:607815 | Ensembl:ENSG00000185046 | HGNC:HGNC:24600 | PA128394692 | 12q23.1 |
GO terms in ANKS1B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0046875 | ephrin receptor binding |
| BP | IEA | GO:1900383 | regulation of synaptic plasticity by receptor localization to synapse |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0014069 | postsynaptic density |
| CC | IEA | GO:0015030 | Cajal body |
| CC | IEA | GO:0030054 | cell junction |
| CC | IEA | GO:0043197 | dendritic spine |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IEA | GO:0045211 | postsynaptic membrane |
Gene expression in normal tissue: ANKS1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ANKS1B
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