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
362081322023Governing dynamics and preferential binding of the AXH domain influence the aggregation pathway of Ataxin-1.0
366298822023Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response.0
362081322023Governing dynamics and preferential binding of the AXH domain influence the aggregation pathway of Ataxin-1.0
366298822023Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response.0
346356192022Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.1
359038752022Epigenetic control of ataxin-1 in multiple sclerosis.1
359066722022Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1.3
346356192022Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.1
359038752022Epigenetic control of ataxin-1 in multiple sclerosis.1
359066722022Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1.3
331598252021Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.4
337725402021Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase.2
343028182021A Structural Study of the Cytoplasmic Chaperone Effect of 14-3-3 Proteins on Ataxin-1.5
331598252021Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.4
337725402021Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase.2

Citation

Dessen P

ATXN1 (ataxin 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56153/favicon/css/js/lib/jquery-3.5.1.min.js