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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dystonic disorder Likely pathogenic rs1586459408 RCV001003968
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (32 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSTONIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSTONIA 6, TORSION CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult-Onset Dystonias Dystonia CTD_human_DG 23222958
★☆☆☆☆
Found in Text Mining only
Adult-Onset Idiopathic Focal Dystonias Dystonia CTD_human_DG 23222958
★☆☆☆☆
Found in Text Mining only
Adult-Onset Idiopathic Torsion Dystonias Dystonia CTD_human_DG 23222958
★☆☆☆☆
Found in Text Mining only
Aicardi Goutieres syndrome Aicardi goutieres syndrome Pubtator 24135862 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal Dominant Familial Dystonia Dystonia CTD_human_DG 23222958
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Familial Dystonia Dystonia CTD_human_DG 23222958
★☆☆☆☆
Found in Text Mining only
Blepharospasm Blepharospasm Pubtator 20083799, 34998426 Associate
★☆☆☆☆
Found in Text Mining only
Blepharospasm Blepharospasm BEFREE 22377579, 27913194
★☆☆☆☆
Found in Text Mining only
Blepharospasm Blepharospasm HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 25070814 Associate
★☆☆☆☆
Found in Text Mining only