THAP1

THAP domain containing, apoptosis associated protein 1

Rendering based on PDB 2JTG.
Identifiers
Symbols THAP1; DYT6; FLJ10477; MGC33014
External IDs OMIM609520 MGI1921004 HomoloGene10005 GeneCards: THAP1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 55145 73754
Ensembl ENSG00000131931 ENSMUSG00000037214
UniProt Q9NVV9 Q8CHW1
RefSeq (mRNA) NM_018105.2 NM_199042.2
RefSeq (protein) NP_060575.1 NP_950243.1
Location (UCSC) Chr 8:
42.69 – 42.7 Mb
Chr 8:
27.27 – 27.27 Mb
PubMed search [1] [2]

THAP domain-containing protein 1 is a protein that in humans is encoded by the THAP1 gene.[1][2][3][4]

The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed.[4]

Contents

Interactions

THAP1 has been shown to interact with PAWR.[2]

References

  1. ^ Roussigne M, Kossida S, Lavigne AC, Clouaire T, Ecochard V, Glories A, Amalric F, Girard JP (Feb 2003). "The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase". Trends Biochem Sci 28 (2): 66–9. doi:10.1016/S0968-0004(02)00013-0. PMID 12575992. 
  2. ^ a b Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard JP (Apr 2003). "THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies". Oncogene 22 (16): 2432–42. doi:10.1038/sj.onc.1206271. PMID 12717420. 
  3. ^ Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ (Feb 2009). "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia". Nat Genet 41 (3): 286–8. doi:10.1038/ng.304. PMID 19182804. 
  4. ^ a b "Entrez Gene: THAP1 THAP domain containing, apoptosis associated protein 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55145. 

Further reading

External links