ANKUB1
Ankyrin Repeat and Ubiquitin Domain Containing 1
Gene Information Card
| Symbol | ANKUB1 |
|---|---|
| Full Name | Ankyrin Repeat and Ubiquitin Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NKD9 |
| OMIM ID | 618845 |
| HGNC ID | 37232 |
| Aliases | C3orf17, FLJ32743 |
Description
ANKUB1 (Ankyrin Repeat and Ubiquitin Domain Containing 1) is a protein-coding gene located on chromosome 3p21.31. It encodes a protein containing ankyrin repeats and a ubiquitin domain, suggesting roles in protein-protein interactions and ubiquitin-mediated processes. Expression is observed in various tissues, but detailed functional characterization remains limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 3.1 | Low |
| Adrenal gland | 2.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.0 | Low expression |
| HeLa | 1.2 | Low expression |
| K562 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The ANKUB1 protein (UniProt A6NKD9) contains ankyrin repeats and a ubiquitin domain, indicating potential involvement in protein-protein interactions and ubiquitin signaling. Its precise molecular function and cellular pathways are not yet fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKUB1 Knockout HEK293 Cell Line | EDJ-KQ12380 | Human | 389161 | Details Get a Quote |
| ANKUB1 Knockout HeLa Cell Line | EDJ-KQ60072 | Human | 389161 | Details Get a Quote |
| ANKUB1 Knockout A-549 Cell Line | EDJ-KQ68535 | Human | 389161 | Details Get a Quote |
| ANKUB1 Knockout HCT 116 Cell Line | EDJ-KQ76910 | Human | 389161 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
