THAP1
THAP domain-containing protein 1
Also known as: 4833431A01Rik, DYT6, FLJ10477, THAP1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NVV9
- Gene
- THAP1
- Ensembl
- ENSG00000131931
- Chromosome
- 8
- Canonical length
- 213 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI 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 links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
213 residues, UniProt reviewed canonical sequence.
>Q9NVV9|THAP1
1 MVQSCSAYGC KNRYDKDKPV SFHKFPLTRP SLCKEWEAAV RRKNFKPTKY SSICSEHFTP
61 DCFKRECNNK LLKENAVPTI FLCTEPHDKK EDLLEPQEQL PPPPLPPPVS QVDAAIGLLM
121 PPLQTPVNLS VFCDHNYTVE DTMHQRKRIH QLEQQVEKLR KKLKTAQQRC RRQERQLEKL
181 KEVVHFQKEK DDVSERGYVI LPNDYFEIVE VPALocalizationUniProt · AlphaFold · HPA
Whether an antibody against THAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- tongue: 12 nTPM
- skeletal muscle: 12 nTPM
- thymus: 11 nTPM
- lymph node: 8.8 nTPM
- testis: 8.8 nTPM
- heart muscle: 8.2 nTPM
Single-cell type
- oocytes: 51 nCPM
- late primary spermatocytes: 48 nCPM
- undifferentiated spermatogonia: 46 nCPM
- differentiating spermatogonia: 45 nCPM
- megakaryocytes: 43 nCPM
- early spermatids: 33 nCPM
Immune cell
- T-reg: 33 nTPM
- eosinophil: 31 nTPM
- naive CD4 T-cell: 27 nTPM
- basophil: 24 nTPM
- memory CD4 T-cell: 23 nTPM
- memory CD8 T-cell: 22 nTPM
Brain region
- cerebellum: 13 nTPM
- cerebral cortex: 11 nTPM
- white matter: 11 nTPM
- pons: 8.6 nTPM
- medulla oblongata: 8.5 nTPM
- spinal cord: 8.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about THAP1.
Disease | AllUniProt
Conditions THAP1 is implicated in, by any mechanism.
- Dystonia 6, torsion (DYT6) MIM:602629
Disease | GeneticClinVar
46 pathogenic / likely-pathogenic of 209 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Torsion dystonia 6
- See cases
- Dystonic disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.49
- gnomAD pLI
- 0.8
- gnomAD missense Z
- 1.37
- DepMap mean gene effect
- -1.12
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA-templated transcription
- endothelial cell proliferation
- negative regulation of transcription by RNA polymerase II
- regulation of DNA-templated transcription
- regulation of mitotic cell cycle
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- identical protein binding
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of THAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads THAP1 as an antibody target. Whether an autoantibody or antibody against THAP1 could matter depends on whether native THAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
THAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label THAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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