Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Activator of basal transcription 1 (hABT1) (Basal transcriptional activator)
Protein function
Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity).
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Diseases Linked via Similar GenesDiseases curated for genes most similar to ABT1 (see Related Genes above), that are NOT already directly curated for ABT1 itself -- a lead worth checking, not a confirmed association.