Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55145
Gene name Gene Name - the full gene name approved by the HGNC.
THAP domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
THAP1
Synonyms (NCBI Gene) Gene synonyms aliases
DYT6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DYT6
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 21873635
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609520 20856 ENSG00000131931
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dystonia Dystonia Musculorum Deformans, Dystonia Disorders, Idiopathic familial dystonia, Adult-Onset Dystonias, Adult-Onset Idiopathic Focal Dystonias, Adult-Onset Idiopathic Torsion Dystonias, Autosomal Dominant Familial Dystonia, Autosomal Recessive Familial Dystonia, Childhood Onset Dystonias, Dystonia, Primary, Dystonia, Secondary, Dystonias, Sporadic, Familial Dystonia, Dystonia 6, torsion (disorder), Primary dystonia, DYT6 type rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440
View all (136 more)
23222958, 28299530, 26275586, 26486352, 21839475, 21793105, 21495072, 24976531, 21425341, 21800139, 19345147, 20211909, 20825472, 21520283, 19182804
View all (12 more)
Associations from Text Mining
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
View all (7 more)