THAP1 - THAP domain containing 1 Gene

Also Known as DYT6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55145

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

THAP1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84833 THAP1 Antibody (YA4530) ICC/IF, FC, ELISA Human
HY-P84833A THAP1 Antibody (YA4530)(PBS only) ICC/IF, FC, ELISA Human

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

  • Thap1 Dystonia

  • Generalized Cervical And Upper-Limb-Onset Dystonia

  • Adult-Onset Torsion Dystonia Mixed Type

  • Autosomal Dominant Torsion Dystonia 6

  • Dystonia-6

  • Torsion Dystonia Type 6

  • Dystonia, Type 6, Torsion

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Blepharospasm
Segmental Dystonia
Spasmodic Dystonia
  • Laryngeal Dystonia

Focal Hand Dystonia
  • Organic Writer'S Cramp

  • Dystonia, Focal, Task-Specific

Multifocal Dystonia
Hemidystonia
Hereditary Lymphedema Ii
  • Meige Syndrome

  • Meige Disease

  • Meige Lymphedema

  • Hereditary Lymphedema Type Ii

  • Lymphedema Hereditary Type 2

  • Lymphedema Praecox

  • Lymphedema, Hereditary, Ii

  • Blepharospasm-Oromandibular Dystonia Syndrome

  • Meige Dystonia

  • Meige'S Syndrome

  • Late-Onset Lymphedema

  • Lmph2

  • 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

  • Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement

  • 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

  • Dystonia-Parkinsonism With Diurnal Fluctuation

  • Dyt-Th

  • Hpd With Diurnal Fluctuation

  • Hereditary Progressive Dystonia With Diurnal Fluctuation

  • 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
Others THAP1 NCBI