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

THAP1 Protein Structure

THAP

0
100
200
213 a.a.

Protein Preferred Names

Protein Names

THAP domain-containing protein 1

4833431A01Rik

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14469	THAP1 Human Pre-designed siRNA Set A		/	Unkown

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