ABT1: Activator of Basal Transcription 1
A core component of the transcription initiation complex involved in RNA polymerase II-dependent gene expression.
Gene Information Card
| Symbol | ABT1 |
|---|---|
| Full Name | Activator of Basal Transcription 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 29777 ncbi.nlm.nih.gov/gene/29777 |
| Ensembl ID | ENSG00000112182 |
| UniProt ID | Q9Y4R8 |
| OMIM ID | 605476 |
| HGNC ID | 15896 |
| Aliases | ABT1, MGC12966, dJ402H5.2 |
Description
ABT1 encodes a protein that functions as an activator of basal transcription by RNA polymerase II. It is involved in the assembly of the transcription initiation complex and may play a role in regulating gene expression in various tissues. The gene is located on chromosome 6p21.33 within the major histocompatibility complex (MHC) region.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Spleen | 7.9 | Low |
| Bone marrow | 6.8 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| K562 | 8.5 | Low expression |
| HepG2 | 6.1 | Low expression |
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)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • GO:0003712 - transcription coregulator activity | • GO:0005634 - nucleus |
| • GO:0006366 - transcription by RNA polymerase II | • GO:0045944 - positive regulation of transcription by RNA polymerase II |
Pathways
• RNA polymerase II transcription initiation
Protein Summary
The ABT1 protein is a 244-amino acid nuclear factor that stimulates basal transcription. It interacts with components of the transcription initiation complex and may facilitate promoter recognition. Its expression is highest in testis and lymphoid tissues, suggesting a role in spermatogenesis and immune function.
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