THAP1 (THAP domain containing 1)

2004-02-01 Affiliation

Identity

HGNC

THAP1

LOCATION

8p11.21

LOCUSID

55145

ALIAS

DYT6

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55145
MIM: 609520
HGNC: 20856
Ensembl: ENSG00000131931

Variants:

dbSNP: 55145
ClinVar: 55145
TCGA: ENSG00000131931
COSMIC: THAP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131931	ENST00000254250	Q9NVV9
ENSG00000131931	ENST00000345117	Q9NVV9
ENSG00000131931	ENST00000529779	E9PIS9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
19182804	2009	Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.	94
15863623	2005	The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity.	56
15111678	2004	Regional metabolism in primary torsion dystonia: effects of penetrance and genotype.	51
20200153	2010	The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias.	45
19345147	2009	Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.	42
20083799	2010	Novel THAP1 sequence variants in primary dystonia.	38
20083799	2010	Novel THAP1 sequence variants in primary dystonia.	38
19345148	2009	Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.	36
19345148	2009	Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.	36
19528516	2009	Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.	35

Citation

Dessen P

THAP1 (THAP domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-02-01

Online version: http://atlasgeneticsoncology.org/gene/42546/thap1