ANKS1A
Ankyrin Repeat and Sterile Alpha Motif Domain Containing 1A
Gene Information Card
| Symbol | ANKS1A |
|---|---|
| Full Name | Ankyrin Repeat and Sterile Alpha Motif Domain Containing 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 23294 ncbi.nlm.nih.gov/gene/23294 |
| Ensembl ID | ENSG00000111897 |
| UniProt ID | Q92625 |
| OMIM ID | 608994 |
| HGNC ID | 21071 |
| Aliases | ANKS1, KIAA0229, ODAG, PRO0791 |
Description
ANKS1A encodes a protein containing ankyrin repeats and a sterile alpha motif (SAM) domain, involved in protein-protein interactions and signal transduction. It may play a role in cell adhesion, cytoskeletal organization, and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.5 | Low |
| Testis | 8.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.3 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Predicted loss-of-function |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause 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 |
| • cell adhesion | • cytoskeleton organization |
Pathways
• No specific pathways annotated in Reactome or KEGG
Protein Summary
ANKS1A is a 1087-amino acid protein with ankyrin repeats and a SAM domain. It localizes to the cytoplasm and may interact with signaling molecules and cytoskeletal components. Its exact function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKS1A Knockout HEK293 Cell Line | EDJ-KQ7946 | Human | 23294 | Details Get a Quote |
| ANKS1A Knockout A-549 Cell Line | EDJ-KQ33608 | Human | 23294 | Details Get a Quote |
| ANKS1A Knockout HCT 116 Cell Line | EDJ-KQ33609 | Human | 23294 | Details Get a Quote |
| ANKS1A Knockout HeLa Cell Line | EDJ-KQ33610 | Human | 23294 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
