(Q14905515)

English

ATXN1

protein-coding gene in the species Homo sapiens

ATX1
D6S504E
SCA1
ataxin 1

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No label defined

No description defined

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Statements

1 reference

1 reference

Protein ATXN1 PDB 1oa8.png
910 × 480; 353 KB

0 references

1 reference

1 reference

6 July 2017

amyotrophic lateral sclerosis

determination method

genome-wide association study

TAS

1 reference

reference URL

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=6310

http://www.genome.gov/gwastudies/index.cfm?gene=ATXN1

stated in

Phenocarta

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

retrieved

25 May 2020

spinocerebellar ataxia type 1

1 reference

13 August 2019

genome assembly GRCh38

Genome assembly GRCh37

1 reference

genome assembly GRCh38

Genome assembly GRCh37

1 reference

16299112

genome assembly GRCh38

1 reference

16299343

Genome assembly GRCh37

1 reference

16761491

genome assembly GRCh38

1 reference

16761722

Genome assembly GRCh37

1 reference

6p22.3

1 reference

9 September 2017

281

1 reference

2 September 2017

PBB GE ATXN1 203231 s at fs.png
732 × 530; 12 KB

0 references

PBB GE ATXN1 203232 s at fs.png
732 × 530; 11 KB

0 references

2 references

281

https://omabrowser.org/oma/vps/P54253/

2 references

281

https://omabrowser.org/oma/vps/P54253/

2 references

281

https://omabrowser.org/oma/vps/P54253/

expressed in

endothelial cell

series ordinal

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

Brodmann area 23

series ordinal

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

Skeletal muscle tissue of rectus abdominis

series ordinal

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

germinal epithelium

series ordinal

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

orbitofrontal cortex

series ordinal

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

Brodmann area 46

series ordinal

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

epithelium of colon

series ordinal

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

biceps brachii

series ordinal

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

Skeletal muscle tissue of biceps brachii

series ordinal

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

cartilage tissue

series ordinal

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000124788

exact match

http://identifiers.org/ncbigene/6310

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

2 September 2017

1 reference

2 September 2017

1 reference

11 November 2017

1 reference

2 September 2017

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

0 references

1 reference

2 September 2017

1 reference

2 September 2017

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

Sitelinks

Wikipedia(3 entries)

cywiki ATXN1
enwiki Ataxin 1
ukwiki ATXN1

(Q14905515)

ATXN1

Statements

Identifiers

Sitelinks

Wikipedia(3 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)