ANKS1B
Ankyrin Repeat and Sterile Alpha Motif Domain Containing 1B
Gene Information Card
| Symbol | ANKS1B |
|---|---|
| Full Name | Ankyrin Repeat and Sterile Alpha Motif Domain Containing 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 56899 ncbi.nlm.nih.gov/gene/56899 |
| Ensembl ID | ENSG00000185010 |
| UniProt ID | Q7Z6G8 |
| OMIM ID | 609705 |
| HGNC ID | 21056 |
| Aliases | AIDA-1, ANKS1, EB-1, MGC14288 |
Description
ANKS1B (Ankyrin Repeat and Sterile Alpha Motif Domain Containing 1B) encodes a protein that contains ankyrin repeats and a sterile alpha motif (SAM) domain. It is involved in intracellular signaling, particularly in the brain, where it interacts with amyloid precursor protein (APP) and modulates APP processing. The gene is also implicated in synaptic function and neurodevelopment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic signaling and APP processing; ANKS1B variants may disrupt neuronal connectivity | ClinVar, OMIM |
| Intellectual disability | Loss-of-function mutations impair neurodevelopmental pathways | ClinVar |
| Schizophrenia | Genetic association studies link ANKS1B polymorphisms to increased risk | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | High |
| Testis | 5.3 | Medium |
| Adrenal gland | 3.8 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.4 | Neuronal model, high expression |
| HEK293 | 2.1 | Low expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with intellectual disability |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; reported in autism spectrum disorder |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons result in truncated protein and loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signal transduction |
| • synaptic signaling | • amyloid-beta binding |
| • regulation of APP processing |
Pathways
• Alzheimer disease-amyloid secretase pathway
• Neurotrophin signaling pathway
Protein Summary
The ANKS1B protein (AIDA-1) is a 1026-amino acid protein containing ankyrin repeats and a SAM domain. It localizes to the cytoplasm and nucleus, and is highly expressed in brain. It interacts with APP and modulates its cleavage, influencing amyloid-beta production. It also plays a role in synaptic plasticity and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKS1B Knockout HEK293 Cell Line | EDJ-KQ1020 | Human | 56899 | Details Get a Quote |
| ANKS1B Knockout A-549 Cell Line | EDJ-KQ20103 | Human | 56899 | Details Get a Quote |
| ANKS1B Knockout HeLa Cell Line | EDJ-KQ56762 | Human | 56899 | Details Get a Quote |
| ANKS1B Knockout HCT 116 Cell Line | EDJ-KQ73707 | Human | 56899 | Details Get a Quote |
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