ABTB1 Gene - Ankyrin Repeat and BTB Domain Containing 1
Comprehensive genomic and functional overview of ABTB1
Gene Information Card
| Symbol | ABTB1 |
|---|---|
| Full Name | ankyrin repeat and BTB domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 80325 ncbi.nlm.nih.gov/gene/80325 |
| Ensembl ID | ENSG00000114770 |
| UniProt ID | Q969K4 |
| OMIM ID | 608401 |
| HGNC ID | 24587 |
| Aliases | ANKRD50, BPOZ, EF1ABP, PP2259 |
Description
ABTB1 (ankyrin repeat and BTB domain containing 1) is a protein-coding gene located on chromosome 3q21.3. It encodes a protein containing ankyrin repeats and a BTB (POZ) domain, which is involved in protein-protein interactions and transcriptional regulation. The gene is also known as ANKRD50, BPOZ, EF1ABP, and PP2259.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.5 | Low |
| Lung | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.0 | Embryonic kidney cells |
| HeLa | 4.2 | Cervical cancer cells |
| K562 | 3.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | 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：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm | • GO:0046872 - metal ion binding |
Pathways
• No specific pathways annotated
Protein Summary
The ABTB1 protein (UniProt Q969K4) contains ankyrin repeats and a BTB/POZ domain, suggesting roles in protein-protein interactions and transcriptional regulation. It is localized in the nucleus and cytoplasm and may function as an adaptor or scaffold protein. No disease-associated mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABTB1 Knockout HEK293 Cell Line | EDJ-KQ9536 | Human | 80325 | Details Get a Quote |
| ABTB1 Knockout A-549 Cell Line | EDJ-KQ36314 | Human | 80325 | Details Get a Quote |
| ABTB1 Knockout HCT 116 Cell Line | EDJ-KQ36315 | Human | 80325 | Details Get a Quote |
| ABTB1 Knockout HeLa Cell Line | EDJ-KQ36316 | Human | 80325 | Details Get a Quote |
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