ATXN1 (ataxin 1)

2016-10-01  

Identity

HGNC
ATXN1
LOCATION
6p22.3
LOCUSID
6310
ALIAS
ATX1,D6S504E,SCA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6310
MIM: 601556
HGNC: 10548
Ensembl: ENSG00000124788

Variants:

dbSNP: 6310
ClinVar: 6310
TCGA: ENSG00000124788
COSMIC: ATXN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124788ENST00000244769P54253
ENSG00000124788ENST00000436367P54253
ENSG00000124788ENST00000642969A0A2R8YCF3

Expression (GTEx)

0
5
10
15
20
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
183377222008Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.152
171905982006ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.147
163809052005Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.131
166140042006The role of the sca-1+/CD31- cardiac progenitor cell population in postinfarction left ventricular remodeling.86
200188852010Nucleocytoplasmic shuttling of p62/SQSTM1 and its role in recruitment of nuclear polyubiquitinated proteins to promyelocytic leukemia bodies.80
168318712006CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation.73
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
237193812013RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1.55
123602912002Intranuclear ataxin1 inclusions contain both fast- and slow-exchanging components.38
279185342017Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.38

Citation

Dessen P

ATXN1 (ataxin 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56153/atxn1-(ataxin-1)