Gene Gene information from NCBI Gene database.
Entrez ID 55145
Gene name THAP domain containing 1
Gene symbol THAP1
Synonyms (NCBI Gene)
DYT6
Chromosome 8
Chromosome location 8p11.21
Summary 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 li
SNPs SNP information provided by dbSNP.
23
SNP ID Visualize variation Clinical significance Consequence
rs118204013 A>G Pathogenic Intron variant, coding sequence variant, missense variant
rs267607111 T>C Pathogenic Missense variant, intron variant, coding sequence variant
rs267607112 C>A,T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs377725442 C>T Likely-pathogenic Coding sequence variant, missense variant, 3 prime UTR variant
rs387907176 T>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
942
miRTarBase ID miRNA Experiments Reference
MIRT614145 hsa-miR-6808-5p HITS-CLIP 19536157
MIRT614144 hsa-miR-6893-5p HITS-CLIP 19536157
MIRT614143 hsa-miR-940 HITS-CLIP 19536157
MIRT614142 hsa-miR-3929 HITS-CLIP 19536157
MIRT614141 hsa-miR-4419b HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 20976771
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 17003378
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609520 20856 ENSG00000131931
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVV9
Protein name THAP domain-containing protein 1
Protein 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 targe
PDB 2JTG , 2KO0 , 2L1G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05485 THAP 5 81 THAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta. {ECO:0000269|PubMed:20200153}.
Sequence
MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTP
DCFKRECNNKLLKENAVPTIF
LCTEPHDKKEDLLEPQEQLPPPPLPPPVSQVDAAIGLLM
PPLQTPVNLSVFCDHNYTVEDTMHQRKRIHQLEQQVEKLRKKLKTAQQRCRRQERQLEKL
KEVVHFQKEKDDVSERGYVILPNDYFEIVEVPA
Sequence length 213
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
173
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dystonic disorder Likely pathogenic rs1586459408 RCV001003968
Torsion dystonia 6 Likely pathogenic; Pathogenic rs2128918440, rs2128918641, rs2128918456, rs2128919290, rs2128918637, rs1586456293, rs1586456350, rs1586456278, rs267607112, rs2487042330, rs2487030586, rs2487030414, rs2487030539, rs2487042104, rs2487027092
View all (21 more)
RCV001381138
RCV001383038
RCV001947075
RCV001935243
RCV001915694
RCV000001714
RCV000001716
RCV000001717
RCV000001718
RCV003497950
RCV003038630
RCV003214125
RCV003336698
RCV003499946
RCV003601605
RCV003601609
RCV000024329
RCV000024330
RCV000660426
RCV000688381
RCV001227752
RCV000638942
RCV000638943
RCV000638941
RCV000688824
RCV000706513
RCV000690478
RCV000810550
RCV000853344
RCV000995670
RCV001241739
RCV001050327
RCV001049133
RCV003600397
RCV001198855
RCV001239209
RCV001253205
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Multiple mitochondrial dysfunctions syndrome 9b Benign; Likely benign rs138345513 RCV004595512
THAP1-related disorder Likely benign; Uncertain significance rs369406881, rs950435041 RCV003971020
RCV003420836
Young-onset Parkinson disease Uncertain significance rs1183345847 RCV005626829
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aicardi Goutieres syndrome Associate 24135862
Baraitser Brett Piesowicz syndrome Associate 31133547
Blepharospasm Associate 20083799, 34998426
Carcinogenesis Associate 25070814
Cerebral Hemorrhage Associate 36096774
Chordoma Associate 37024492
Crisponi syndrome Associate 22844099
Demyelinating Diseases Associate 34686877
Dysphonia Associate 27188707
Dystonia Associate 15897512, 19345147, 19528516, 20083799, 20200153, 20211909, 21601506, 21752024, 21847143, 22345219, 22844099, 22987473, 24135862, 24500857, 26087139
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