InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: THAP1

Summary

InnateDB Protein

IDBP-20417.6

Last Modified

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

Gene Symbol

THAP1

Protein Name

THAP domain containing, apoptosis associated protein 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000254250

InnateDB Gene

IDBG-20415 (THAP1)

Protein Structure

UniProt Annotation

Function

DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis. {ECO:0000269PubMed:12717420, ECO:0000269PubMed:17003378, ECO:0000269PubMed:20200153}.

Subcellular Localization

Nucleus, nucleoplasm {ECO:0000269PubMed:12717420}. Nucleus, PML body {ECO:0000269PubMed:12717420}.

Disease Associations

Dystonia 6, torsion (DYT6) [MIM:602629]: A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions. {ECO:0000269PubMed:19182804, ECO:0000269PubMed:19345147, ECO:0000269PubMed:19908320, ECO:0000269PubMed:19908325, ECO:0000269PubMed:20083799, ECO:0000269PubMed:20211909, ECO:0000269PubMed:20629133, ECO:0000269PubMed:20669277, ECO:0000269PubMed:20687191, ECO:0000269PubMed:20825472, ECO:0000269PubMed:21110056, ECO:0000269PubMed:21425335, ECO:0000269PubMed:21425341, ECO:0000269PubMed:21800139, ECO:0000269PubMed:21839475, ECO:0000269PubMed:21847143, ECO:0000269PubMed:22377579, ECO:0000269Ref.3}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta. {ECO:0000269PubMed:20200153}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.

Experimentally validated
Total	30 [view]
Protein-Protein	29 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0001935	endothelial cell proliferation
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007049	cell cycle
GO:0007346	regulation of mitotic cell cycle