InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBP

Summary

InnateDB Protein

IDBP-99315.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TBP

Protein Name

TATA box binding protein

Synonyms

GTF2D; GTF2D1; HDL4; SCA17; TFIID;

Species

Homo sapiens

Ensembl Protein

ENSP00000230354

InnateDB Gene

IDBG-99313 (TBP)

Protein Structure

UniProt Annotation

Function

General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre- initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. {ECO:0000269PubMed:15970593}.

Subcellular Localization

Nucleus.

Disease Associations

Spinocerebellar ataxia 17 (SCA17) [MIM:607136]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. {ECO:0000269PubMed:11313753, ECO:0000269PubMed:11448935, ECO:0000269PubMed:11939898}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, with levels highest in the testis and ovary. {ECO:0000269PubMed:17570761}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 242 experimentally validated interaction(s) in this database.
They are also associated with 29 interaction(s) predicted by orthology.

Experimentally validated
Total	242 [view]
Protein-Protein	226 [view]
Protein-DNA	13 [view]
Protein-RNA	0
DNA-DNA	3 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	29 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0044212	transcription regulatory region DNA binding
GO:0070491	repressing transcription factor binding

Biological Process

GO:0006352	DNA-templated transcription, initiation
GO:0006360	transcription from RNA polymerase I promoter
GO:0006361	transcription initiation from RNA polymerase I promoter
GO:0006362	transcription elongation from RNA polymerase I promoter
GO:0006363	termination of RNA polymerase I transcription
GO:0006366	transcription from RNA polymerase II promoter
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0006368	transcription elongation from RNA polymerase II promoter
GO:0006383	transcription from RNA polymerase III promoter
GO:0008219	cell death
GO:0010467	gene expression
GO:0016032	viral process