1. Gene
  2. THAP1 - THAP domain containing 1 Gene

THAP1 - THAP domain containing 1 Gene

Homo sapiens

Also known as DYT6

Gene ID: 55145 | Gene type: protein coding

About THAP1

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,836,674-42,843,325 (from NCBI)

This gene has 4 transcripts (splice variants), 198 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 5.5) and 25 other tissues.

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 links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

THAP1 Products(2)

mRNA Protein Name
NM_018105.3 NP_060575.1 THAP domain-containing protein 1 isoform 1
NM_199003.2 NP_945354.1 THAP domain-containing protein 1 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
20976771 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
17003378 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
28299530 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
15863623 GOA
enables sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
19182804 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
15863623 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
17003378 GOA
involved in endothelial cell proliferation IMP
IMP: Inferred from mutant phenotype
17003378 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
20976771 GOA
involved in regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
17003378 GOA
involved in regulation of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
17003378 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
17003378 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

THAP1 Protein Structure

THAP

THAP: THAP domain (4 - 84)

  • 0
  • 100
  • 200
  • 213 a.a.
Protein Preferred Names Protein Names

THAP domain-containing protein 1

4833431A01Rik

THAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra THAP1 Q9NVV9 KRTAP10-7 Homo sapiens P60409
Validated Y2H
25416956
Intra THAP1 Q9NVV9 KRTAP10-7 Homo sapiens P60409
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 KRTAP10-7 Homo sapiens P60409
Y2H Array
25416956
Intra THAP1 Q9NVV9 PRR20C Homo sapiens P86479
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 PRR20C Homo sapiens P86479
Validated Y2H
25416956
Intra THAP1 Q9NVV9 PRR20C Homo sapiens P86479
Y2H Array
25416956
Intra THAP1 Q9NVV9 NKAPD1 Homo sapiens Q6ZUT1-2
Y2H Array
25416956
Intra THAP1 Q9NVV9 NKAPD1 Homo sapiens Q6ZUT1-2
Validated Y2H
25416956
Intra THAP1 Q9NVV9 UBE2I Homo sapiens Q7KZS0
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 UBE2I Homo sapiens Q7KZS0
Y2H Array
32296183
Intra THAP1 Q9NVV9 BEND7 Homo sapiens Q8N7W2-2
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 BEND7 Homo sapiens Q8N7W2-2
Y2H Array
32296183
Intra THAP1 Q9NVV9 TPM3 Homo sapiens Q5VU62
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 TPM3 Homo sapiens Q5VU62
Validated Y2H
25416956
Intra THAP1 Q9NVV9 AKAP17A Homo sapiens Q02040-3
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 AKAP17A Homo sapiens Q02040-3
Validated Y2H
25416956
Intra THAP1 Q9NVV9 AKAP17A Homo sapiens Q02040-3
Y2H Array
25416956
Intra THAP1 Q9NVV9 RIPPLY1 Homo sapiens Q0D2K3
Validated Y2H
25416956
Intra THAP1 Q9NVV9 ARL6IP4 Homo sapiens Q66PJ3-3
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 ARL6IP4 Homo sapiens Q66PJ3-3
Y2H Array
25416956
Intra THAP1 Q9NVV9 PID1 Homo sapiens Q7Z2X4
Validated Y2H
25416956
Intra THAP1 Q9NVV9 FAM133A Homo sapiens Q8N9E0
Validated Y2H
25416956
Intra THAP1 Q9NVV9 FAM133A Homo sapiens Q8N9E0
Y2H Array
25416956
Intra THAP1 Q9NVV9 GAPDHS Homo sapiens O14556
Anti Tag CoIP
33961781
Intra THAP1 Q9NVV9 GAPDHS Homo sapiens O14556
Anti Tag CoIP
28514442
Intra THAP1 Q9NVV9 ZNF526 Homo sapiens Q8TF50
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 ZNF526 Homo sapiens Q8TF50
Y2H Array
32296183
Intra THAP1 Q9NVV9 MIS18A Homo sapiens Q9NYP9
Validated Y2H
32296183
Intra THAP1 Q9NVV9 MIS18A Homo sapiens Q9NYP9
Y2H Array
32296183
Intra THAP1 Q9NVV9 MIS18A Homo sapiens Q9NYP9
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 RALYL Homo sapiens Q86SE5-3
Y2H Array
32296183
Intra THAP1 Q9NVV9 RALYL Homo sapiens Q86SE5-3
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 RALYL Homo sapiens Q86SE5-3
Validated Y2H
25910212
Intra THAP1 Q9NVV9 RALYL Homo sapiens Q86SE5-3
Y2H Bait-Prey Pool
25910212
Intra THAP1 Q9NVV9 RALYL Homo sapiens Q86SE5-3
Y2H Array
25910212
Intra THAP1 Q9NVV9 PRKAA1 Homo sapiens Q13131
Validated Y2H
25416956
Intra THAP1 Q9NVV9 PRKAA1 Homo sapiens Q13131
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 PRKAA1 Homo sapiens Q13131
Y2H Array
25416956
Intra THAP1 Q9NVV9 GPATCH2L Homo sapiens Q9NWQ4-1
Validated Y2H
32296183
Intra THAP1 Q9NVV9 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra THAP1 Q9NVV9 CHD2 Homo sapiens O14647
Y2H Array
25416956
Intra THAP1 Q9NVV9 CHD2 Homo sapiens O14647
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 NDUFAB1 Homo sapiens O14561
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 NDUFAB1 Homo sapiens O14561
Y2H Array
32296183
Intra THAP1 Q9NVV9 RNF4 Homo sapiens P78317
Y2H Array
32296183
Intra THAP1 Q9NVV9 RNF4 Homo sapiens P78317
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 ZNF408 Homo sapiens Q9H9D4
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 ZNF408 Homo sapiens Q9H9D4
Y2H Array
32296183
Intra THAP1 Q9NVV9 ZNF408 Homo sapiens Q9H9D4
Y2H Pooling
16189514
Intra THAP1 Q9NVV9 CSNK2A1 Homo sapiens P68400
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 CSNK2A1 Homo sapiens P68400
Y2H Array
29892012
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
Y2H Bait-Prey Pool
25910212
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
MAPPIT
25416956
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
Y2H Array
25910212
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
Validated Y2H
25416956
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
Y2H Array
25416956
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
Y2H Array
32296183
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 NUP62 Homo sapiens P37198
Validated Y2H
25910212
Intra THAP1 Q9NVV9 RPS25 Homo sapiens P62851
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 TPM3 Homo sapiens P06753
Y2H Array
32296183
Intra THAP1 Q9NVV9 TPM3 Homo sapiens P06753
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 BAG5 Homo sapiens Q9UL15
Y2H Array
31515488
Intra THAP1 Q9NVV9 BAG5 Homo sapiens Q9UL15
Validated Y2H
25416956
Intra THAP1 Q9NVV9 BAG5 Homo sapiens Q9UL15
Validated Y2H
32296183
Intra THAP1 Q9NVV9 BYSL Homo sapiens Q13895
Y2H Array
25416956
Intra THAP1 Q9NVV9 BYSL Homo sapiens Q13895
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 POLR2L Homo sapiens P62875
Validated Y2H
25416956
Intra THAP1 Q9NVV9 POLR2L Homo sapiens P62875
Y2H Array
25416956
Intra THAP1 Q9NVV9 POLR2L Homo sapiens P62875
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 NKAPD1 Homo sapiens Q6ZUT1
Y2H Array
25416956
Intra THAP1 Q9NVV9 NKAPD1 Homo sapiens Q6ZUT1
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 RBM39 Homo sapiens Q14498
Y2H Array
25416956
Intra THAP1 Q9NVV9 PPIG Homo sapiens Q13427
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 HCFC1 Homo sapiens P51610
Anti Bait CoIP
28486698
Intra THAP1 Q9NVV9 HCFC1 Homo sapiens P51610
Y2H
28486698
Intra THAP1 Q9NVV9 MORF4L1 Homo sapiens Q9UBU8
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 MORF4L1 Homo sapiens Q9UBU8
Y2H Array
25416956
Intra THAP1 Q9NVV9 MORF4L2 Homo sapiens Q15014
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 MORF4L2 Homo sapiens Q15014
Y2H Array
25416956
Intra THAP1 Q9NVV9 AP2B1 Homo sapiens P63010
Validated Y2H
25416956
Intra THAP1 Q9NVV9 PMP22 Homo sapiens A0A6Q8PF08
Validated Y2H
32814053
Intra THAP1 Q9NVV9 PMP22 Homo sapiens A0A6Q8PF08
Y2H Pooling
32814053
Intra THAP1 Q9NVV9 PMP22 Homo sapiens A0A6Q8PF08
Y2H Array
32814053
Intra THAP1 Q9NVV9 YES1 Homo sapiens P07947
Validated Y2H
25416956
Intra THAP1 Q9NVV9 YES1 Homo sapiens P07947
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 TRAF5 Homo sapiens O00463
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 TRAF5 Homo sapiens O00463
Validated Y2H
25416956
Intra THAP1 Q9NVV9 TRAF5 Homo sapiens O00463
Y2H Array
25416956
Intra THAP1 Q9NVV9 MRPL11 Homo sapiens Q9Y3B7
Y2H Array
31515488
Intra THAP1 Q9NVV9 MRPL11 Homo sapiens Q9Y3B7
Validated Y2H
25416956
Intra THAP1 Q9NVV9 MRPL11 Homo sapiens Q9Y3B7
Y2H Array
25416956
Intra THAP1 Q9NVV9 GPATCH2L Homo sapiens Q9NWQ4
Validated Y2H
25416956
Intra THAP1 Q9NVV9 GPATCH2L Homo sapiens Q9NWQ4
Y2H Array
25416956
Intra THAP1 Q9NVV9 GPATCH2L Homo sapiens Q9NWQ4
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 ZCCHC10 Homo sapiens Q8TBK6
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 TCEA2 Homo sapiens Q15560
Validated Y2H
25416956
Intra THAP1 Q9NVV9 TCEA2 Homo sapiens Q15560
Y2H Array
25416956
Intra THAP1 Q9NVV9 TCEA2 Homo sapiens Q15560
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 NDUFV2 Homo sapiens P19404
Y2H Array
32814053
Intra THAP1 Q9NVV9 NDUFV2 Homo sapiens P19404
Y2H Pooling
32814053
Intra THAP1 Q9NVV9 NDUFV2 Homo sapiens P19404
Validated Y2H
32814053
Intra THAP1 Q9NVV9 STRBP Homo sapiens Q96SI9
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 STRBP Homo sapiens Q96SI9
Validated Y2H
25416956
Intra THAP1 Q9NVV9 STRBP Homo sapiens Q96SI9
Y2H Pooling
16189514
Intra THAP1 Q9NVV9 NTAQ1 Homo sapiens Q96HA8
Y2H
21516116
Intra THAP1 Q9NVV9 NTAQ1 Homo sapiens Q96HA8
Y2H Array
31515488
Intra THAP1 Q9NVV9 NTAQ1 Homo sapiens Q96HA8
Validated Y2H
25416956
Intra THAP1 Q9NVV9 NTAQ1 Homo sapiens Q96HA8
Y2H Array
25416956
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Y2H
21516116
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Validated Y2H
32296183
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Y2H Array
25416956
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Y2H Array
32296183
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Validated Y2H
25910212
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Y2H Pooling
16189514
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Y2H Bait-Prey Pool
25910212
Intra THAP1 Q9NVV9 THAP1 Homo sapiens Q9NVV9
Y2H Array
25910212
Intra THAP1 Q9NVV9 RALYL Homo sapiens Q86SE5
Validated Y2H
25416956
Intra THAP1 Q9NVV9 RALYL Homo sapiens Q86SE5
Y2H Pooling
16189514
Intra THAP1 Q9NVV9 U2AF2 Homo sapiens P26368
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 U2AF2 Homo sapiens P26368
Validated Y2H
25416956
Intra THAP1 Q9NVV9 MMTAG2 Homo sapiens Q9BU76
Y2H Array
25416956
Intra THAP1 Q9NVV9 MMTAG2 Homo sapiens Q9BU76
Y2H Pooling
16189514
Intra THAP1 Q9NVV9 LASP1 Homo sapiens Q14847
Validated Y2H
25416956
Intra THAP1 Q9NVV9 LASP1 Homo sapiens Q14847
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 GFAP Homo sapiens P14136
Validated Y2H
32814053
Intra THAP1 Q9NVV9 GFAP Homo sapiens P14136
Y2H Array
32814053
Intra THAP1 Q9NVV9 GFAP Homo sapiens P14136
Y2H Pooling
32814053
Intra THAP1 Q9NVV9 FAM124A Homo sapiens Q86V42
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 FAM124A Homo sapiens Q86V42
Y2H Array
25416956
Intra THAP1 Q9NVV9 ZBTB48 Homo sapiens P10074
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 C1orf216 Homo sapiens Q8TAB5
Y2H Array
32296183
Intra THAP1 Q9NVV9 SLU7 Homo sapiens O95391
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 SLU7 Homo sapiens O95391
Validated Y2H
25416956
Intra THAP1 Q9NVV9 KLF12 Homo sapiens Q9Y4X4
Y2H Array
25416956
Intra THAP1 Q9NVV9 KLF12 Homo sapiens Q9Y4X4
Validated Y2H
25416956
Intra THAP1 Q9NVV9 C7orf50 Homo sapiens Q9BRJ6
Validated Y2H
25416956
Intra THAP1 Q9NVV9 SAP30BP Homo sapiens Q9UHR5
Y2H Array
25416956
Intra THAP1 Q9NVV9 TTLL10 Homo sapiens Q6ZVT0
Validated Y2H
25416956
Intra THAP1 Q9NVV9 FAM9A Homo sapiens Q8IZU1
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 FAM9A Homo sapiens Q8IZU1
Y2H Array
32296183
Intra THAP1 Q9NVV9 ZNF385C Homo sapiens Q66K41
Y2H Prey Pooling
25416956
Intra THAP1 Q9NVV9 ZNF385C Homo sapiens Q66K41
Y2H Array
25416956
Intra THAP1 Q9NVV9 ZNF385C Homo sapiens Q66K41
Validated Y2H
25416956
Intra THAP1 Q9NVV9 RAD54L2 Homo sapiens Q9Y4B4
Y2H Array
32296183
Intra THAP1 Q9NVV9 RAD54L2 Homo sapiens Q9Y4B4
Y2H Prey Pooling
32296183
Intra THAP1 Q9NVV9 RAD54L2 Homo sapiens Q9Y4B4
Validated Y2H
32296183
Intra THAP1 Q9NVV9 ACOT7 Homo sapiens O00154
Validated Y2H
25416956
Intra THAP1 Q9NVV9 RALY Homo sapiens Q53GL6
Y2H Array
32296183
Intra THAP1 Q9NVV9 RALY Homo sapiens Q53GL6
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Dystonia 6, Torsion

DYT6

Torsion Dystonia 6

Dystonia 6

Idiopathic Torsion Dystonia Of Mixed Type

Primary Dystonia, Dyt6 Type

Torsion Dystonia, Adult-Onset, Mixed Type

Dyt-Thap1

Adolescent-Onset Dystonia Of Mixed Type

Torsion Dystonia Adult Onset Mixed Type

Dyt6 Dystonia

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Adult-Onset Torsion Dystonia Mixed Type

Autosomal Dominant Torsion Dystonia 6

Dystonia-6

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Dystonia, Type 6, Torsion

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Blepharospasm
Segmental Dystonia
Spasmodic Dystonia

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Multifocal Dystonia
Hemidystonia
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Meige Dystonia

Meige'S Syndrome

Late-Onset Lymphedema

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Lymphedema Preacox

Lymphedema, Late-Onset

Blepharospasm - Oromandibular Dystonia

Blepharospasm-Oromandibular Dystonia

Brueghel Syndrome

Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome

Oral Facial Dystonia

Segmental Cranial Dystonia

Meigs Syndrome

Cervical Dystonia

Spasmodic Torticollis

Dystonia 12

DYT12

Rdp

Generalized Dystonia

Dystonia-12

Rapid-Onset Dystonia-Parkinsonism

Familial Dystonia

Dystonia Musculorum Deformans

Dystonic Disorders

Idiopathic Familial Dystonia

Dystonia-Parkinsonism, Rapid-Onset

Fragments Of Torsion Dystonia

Dyt-Atp1a3

Rapid-Onset Dystonia Parkinsonism

Rodp

Dystonia, Type 12

Dystonia 3, Torsion, X-Linked

Idiopathic Non-Familial Dystonia

Symptomatic Torsion Dystonia

Dystonia Disorders

Oromandibular Dystonia
Dystonia 1, Torsion, Autosomal Dominant

Dystonia Musculorum Deformans 1

Dystonia Musculorum Deformans

DYT1

Early-Onset Torsion Dystonia

Eotd

Dystonia-1, Torsion

Torsion Dystonia 1

Autosomal Dominant Torsion Dystonia 1

Dystonia-1

Oppenheim'S Dystonia

Oppenheim-Ziehen Disease

Early Onset Torsion Dystonia

Dystonia 3, Torsion, X-Linked

Dystonia 3, Torsion, X-Linked

X-Linked Dystonia-Parkinsonism

DYT3

Xdp

Lubag

Dystonia-Parkinsonism, X-Linked

Torsion Dystonia-Parkinsonism, Filipino Type

Dyt-Taf1

X-Linked Dystonia-Parkinsonism Syndrome

X-Linked Torsion Dystonia-Parkinsonism Syndrome

Dystonia Musculorum Deformans

X-Linked Dystonia-Parkinsonism/Lubag

Lubag Syndrome

Dystonia-3

Torsion Dystonia-Parkinsonism Filipino Type

X-Linked Torsion Dystonia 3

Dystonia, Torsion, X-Linked, Type 3

Cranio-Facial Dystonia

Craniofacial Dystonia

Lymphatic Malformation 5

Meige Syndrome

Meige Disease

Meige Lymphedema

Lymphedema Praecox

Lymphedema, Late-Onset

Late-Onset Lymphedema

LMPH2

Meigs Syndrome

LMPHM5

Lymphedema, Hereditary, Ii, Formerly

Lmph2, Formerly

Hereditary Lymphedema Ii

Demons-Meigs Syndrome

Hereditary Lymphedema Type Ii

Lymphedema, Hereditary, 2

Lymphedema, Hereditary, Ii

Meige'S Disease

Focal Dystonia

Dystonia, Focal, Task-Specific

Dystonia 24

DYT24

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Dystonia-24

Dystonia, Type 24

Dystonia 25

DYT25

Dystonia-25

Dystonia, Type 25

Torsion Dystonia 2

Dystonia 2, Torsion, Autosomal Recessive

Dystonia, Dopa-Responsive

Dystonia 5

Dopa-Responsive Dystonia

DRD

Dyt5

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Dyt-Th

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Dystonia, Progressive, With Diurnal Variation

Segawa Syndrome, Autosomal Dominant

Dystonia, Dopa-Responsive, Autosomal Dominant

Dopa-Responsive Dystonia, Autosomal Dominant

Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia

Dyt-Gch1

Dyt-Spr

Dystonia 5, Dopa-Responsive Type

Hereditary Progressive Dystonia With Marked Diurnal Fluctuation

Autosomal Dominant Dopa-Responsive Dystonia

Autosomal Dominant Segawa Syndrome

Dystonia-5

Progressive Dystonia With Diurnal Fluctuation

Dystonia, Type 5, Dopa-Responsive Type

Dystonia 11, Myoclonic

Myoclonic Dystonia

Myoclonus-Dystonia Syndrome

DYT11

Myoclonic Dystonia 11

Alcohol-Responsive Dystonia

Myoclonus, Hereditary Essential

Dystonia-11, Myoclonic

Myoclonus-Dystonia

Dystonia 11

Hereditary Essential Myoclonus

Dystonia, Alcohol-Responsive

Dyt-Sgce

Dystonia, Alcohol Responsive

Dystonia-11

Dystonia, Myoclonic

Dystonia, Myoclonic, Type 11

Ophthalmia Nodosa
Conversion Disorder

Conversion Hysteria Or Reaction

Conversion Hysterical Neurosis

Hysterical Neurosis, Conversion Type

Fnd

Functional Movement Disorder

Functional Neurological Disorder

Dissociative Disorder

Leber Optic Atrophy And Dystonia

LDYT

Marsden Syndrome

Leber Hereditary Optic Neuropathy With Dystonia

Leber Hereditary Optic Neuropathy And Dystonia

Familial Dystonia With Visual Failure And Striatal Lucencies

Dystonia, Familial, With Visual Failure And Striatal Lucencies

Leber Optic Atrophy With Dystonia

Dystonia Familial, With Visual Failure And Striatal Lucencies

Lhon And Dystonia

Leber'S Hereditary Optic Neuropathy With Dystonia

Movement Disease

Movement Disorders

Movement Disorder

Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia

Neurodegeneration With Brain Iron Accumulation 1

Pantothenate Kinase-Associated Neurodegeneration

Pkan

NBIA1

Hallervorden-Spatz Disease

Hallervorden-Spatz Syndrome

Pigmentary Pallidal Degeneration

Neuroaxonal Dystrophy, Late Infantile

Neurodegeneration With Brain Iron Accumulation Type 1

Classic Pantothenate Kinase-Associated Neurodegeneration

Pkan Neuroaxonal Dystrophy, Juvenile-Onset

Brain Iron Accumulation Type I Syndrome

Nbia

Neurodegeneration With Brain Iron Accumulation

Nbia1, Classic Form

Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form

Pkan, Classic Form

Atypical Pantothenate Kinase-Associated Neurodegeneration

Nbia1, Atypical Form

Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form

Pkan, Atypical Form

Hss

Pkan Neuroaxonal Dystrophy Juvenile-Onset

Neurodegeneration, With Brain Iron Accumulation, Type 1

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

LNS

Hprt Deficiency

Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

X-Linked Hyperuricemia

Choreoathetosis Self-Mutilation Syndrome

Hprt1 Deficiency

Hprt Deficiency, Complete

Deficiency Of Imp Pyrophosphorylase

Hgprt Deficiency

Lesch-Nyhan Disease

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

Hg-Prt Deficiency

Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

Lesch - Nyhan Syndrome

Hprt1 Disorders

Lesch Nyhan Syndrome

Complete Hprt Deficiency Complete

Lesch Nyhan Disease

Complete Hprt Deficiency

Deficiency Of Guanine Phosphoribosyltransferase

Deficiency Of Hypoxanthine Phosphoribosyltransferase

Hypoxanthine Phosphoribosyltransferase Deficiency

Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

Juvenile Hyperuricemia Syndrome

Lnd

Primary Hyperuricemia Syndrome

Total Hprt Deficiency

Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

X-Linked Primary Hyperuricemia

X-Linked Uric Aciduria Enzyme Defect

Hprt Complete Deficiency

Hprt Deficiency Grade Iv

Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease

Choreatic Disease

Chorea

Hereditary Chorea

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta THAP1 VGNC VGNC:104499
Canis familiaris THAP1 VGNC VGNC:47324
Mus musculus THAP1 MGD MGI:1921004
Bos taurus THAP1 VGNC VGNC:35818
Rattus norvegicus THAP1 RGD RGD:1307589