FlyBase Gene Report: Hsap\ATXN1

(Olmos et al., 2024, Palmer et al., 2024, Prange et al., 2024, Na et al., 2023, Lee et al., 2021, Suart et al., 2021, Tazelaar et al., 2020, Bondar et al., 2018, Chung et al., 2017, Fernius et al., 2017, Del Caño-Espinel et al., 2015, Shiraishi et al., 2014, Arribat et al., 2013)

Hsap\ATXN1^2Q.UAS

model of autosomal dominant cerebellar ataxia

CEA

(Al-Ramahi et al., 2006)

Hsap\ATXN1^{85Q.UAS.Tag:MYC}

model of neurodegenerative disease

CEC

(Fujita et al., 2013)

Potential Models Based on Orthology ( 0 )

Human Ortholog

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 5 )

Allele

Disease

Interaction

References

Hsap\ATXN1^30Q.UAS

model of autosomal dominant cerebellar ataxia

is ameliorated by Hsap\STUB1^UAS.cAa

(Al-Ramahi et al., 2006)

is exacerbated by skd^L7062

(Fernandez-Funez et al., 2000)

is exacerbated by Ythdc1^EP3725

(Fernandez-Funez et al., 2000)

is exacerbated by eff⁸

(Fernandez-Funez et al., 2000)

is ameliorated by Nup44A^EP2417

(Fernandez-Funez et al., 2000)

is exacerbated by pum^EP3461

(Fernandez-Funez et al., 2000)

is exacerbated by eff^EP674

(Fernandez-Funez et al., 2000)

is exacerbated by tara^EP3463

(Fernandez-Funez et al., 2000)

is exacerbated by Sin3A^EP866

(Fernandez-Funez et al., 2000)

is ameliorated by DnaJ-1^EP411

(Fernandez-Funez et al., 2000)

is exacerbated by cpo^EP3378

(Fernandez-Funez et al., 2000)

is exacerbated by Tecr⁰⁵⁶³⁴

(Fernandez-Funez et al., 2000)

is exacerbated by lncRNA:Hsrω^neo55

(Fernandez-Funez et al., 2000)

is exacerbated by CtBP⁰³⁴⁶³

(Fernandez-Funez et al., 2000)

is exacerbated by Sirt1^EP2300

(Fernandez-Funez et al., 2000)

is exacerbated by HDAC1^EP3672

(Fernandez-Funez et al., 2000)

is ameliorated by mub^EP3623

(Fernandez-Funez et al., 2000)

is exacerbated by UbcE2H^EP1303

(Fernandez-Funez et al., 2000)

is ameliorated by GstE1^EP2231

(Fernandez-Funez et al., 2000)

Hsap\ATXN1^82.UAS

model of autosomal dominant cerebellar ataxia

is exacerbated by Sirt1^EP2300

(Ghosh and Feany, 2004)

is exacerbated by Hsc70-4^K71S.UAS

(Ghosh and Feany, 2004)

is ameliorated by BacA\p35^UAS.cUa

(Ghosh and Feany, 2004)

is exacerbated by Atx2^EP3145

(Ghosh and Feany, 2004, Shulman and Feany, 2003)

is exacerbated by Atx2^UAS.cSa

(Ghosh and Feany, 2004)

is ameliorated by DnaJ-1^UAS.cKa

(Ghosh and Feany, 2004)

is ameliorated by Diap1^UAS.cLa

(Ghosh and Feany, 2004)

is ameliorated by Hsap\HSPA1L^UAS.cWa

(Ghosh and Feany, 2004)

is exacerbated by pum^EP3461

(Ghosh and Feany, 2004)

is exacerbated by tara^EP3463

(Ghosh and Feany, 2004)

is exacerbated by CG7231^EP2510

(Ghosh and Feany, 2004, Shulman and Feany, 2003)

is ameliorated by Hsap\ATXN1L^{NBA.UAS.Tag:HA,Tag:NLS(Unk)}

(Mizutani et al., 2005)

is ameliorated by Hsap\ATXN1L^UAS.Tag:FLAG

(Mizutani et al., 2005)

is ameliorated by Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}

(Warrick et al., 2005)

Hsap\ATXN1^82Q.UAS

model of autosomal dominant cerebellar ataxia

is ameliorated by Nmnat^UAS.PD

(Ruan et al., 2015)

is exacerbated by Nmnat^UAS.PC

(Ruan et al., 2015)

is ameliorated by Hsap\STUB1^UAS.cAa

(Al-Ramahi et al., 2006)

is exacerbated by lncRNA:Hsrω^neo55

(Fernandez-Funez et al., 2000)

is exacerbated by Sirt1^EP2300

(Fernandez-Funez et al., 2000)

is exacerbated by tara^EP3463

(Fernandez-Funez et al., 2000)

is exacerbated by cpo^EP3378

(Fernandez-Funez et al., 2000)

is ameliorated by GstE1^EP2231

(Fernandez-Funez et al., 2000)

is exacerbated by Ythdc1^EP3725

(Fernandez-Funez et al., 2000)

is exacerbated by HDAC1^EP3672

(Fernandez-Funez et al., 2000)

is exacerbated by Tecr⁰⁵⁶³⁴

(Fernandez-Funez et al., 2000)

is exacerbated by pum^EP3461

(Fernandez-Funez et al., 2000)

is ameliorated by DnaJ-1^EP411

(Fernandez-Funez et al., 2000)

is exacerbated by skd^L7062

(Fernandez-Funez et al., 2000)

is ameliorated by mub^EP3623

(Fernandez-Funez et al., 2000)

is exacerbated by Sin3A^EP866

(Fernandez-Funez et al., 2000)

is exacerbated by UbcE2H^EP1303

(Fernandez-Funez et al., 2000)

is exacerbated by CtBP⁰³⁴⁶³

(Fernandez-Funez et al., 2000)

is exacerbated by eff^EP674

(Fernandez-Funez et al., 2000)

is exacerbated by eff⁸

(Fernandez-Funez et al., 2000)

is ameliorated by Nup44A^EP2417

(Fernandez-Funez et al., 2000)

is exacerbated by Atx2^UAS.cSa

(Al-Ramahi et al., 2007)

is exacerbated by Akt^UAS.Tag:HA

(Chen et al., 2003)

is ameliorated by Akt⁰⁴²²⁶

(Chen et al., 2003)

is exacerbated by 14-3-3ε^UAS.cCa

(Chen et al., 2003)

is exacerbated by Pi3K92E^UAS.Tag:MYC

(Chen et al., 2003)

is ameliorated by PICK1^KK109273

(McGurk and Bonini, 2012)

is ameliorated by Sdr^KK104654

(Park et al., 2013)

is ameliorated by Aduk^KK102129

(Park et al., 2013)

is ameliorated by Wnk^KK102654

(Park et al., 2013)

is ameliorated by BubR1^DN.UAS

(Park et al., 2013)

is ameliorated by JIL-1^KK101300

(Park et al., 2013)

is ameliorated by JIL-1^KG08229

(Park et al., 2013)

is ameliorated by Dsor1^G79

(Park et al., 2013)

is ameliorated by Ras85D⁰⁶⁶⁷⁷

(Park et al., 2013)

is ameliorated by lic^KK108550

(Park et al., 2013)

is ameliorated by rl¹

(Park et al., 2013)

is ameliorated by Ras64B^GD1517

(Park et al., 2013)

is ameliorated by Fntb^KK108342

(Park et al., 2013)

is ameliorated by Raf^KK100982

(Park et al., 2013)

is ameliorated by drk^KG03077

(Park et al., 2013)

is ameliorated by Sos^KG10074

(Park et al., 2013)

is ameliorated by Fnta^KK100303

(Park et al., 2013)

model of olivopontocerebellar atrophy

is ameliorated by Spf45^J23

(Lim et al., 2008)

is ameliorated by DnaJ-1^EP411

(Branco et al., 2008)

is ameliorated by Hsap\STUB1^UAS.cAa

(Branco et al., 2008)

is exacerbated by skd^L7062

(Branco et al., 2008)

is exacerbated by Sin3A^dQ4

(Branco et al., 2008)

is exacerbated by GstS1⁰⁶²⁵³

(Branco et al., 2008)

is ameliorated by vib^EP513

(Branco et al., 2008)

is exacerbated by Hsc70-3^K97S.UAS

(Branco et al., 2008)

is exacerbated by eff⁸

(Branco et al., 2008)

is exacerbated by cpo^EP3378

(Branco et al., 2008)

is exacerbated by Diap1⁴

(Branco et al., 2008)

is exacerbated by Sirt1^EP2300

(Branco et al., 2008)

is exacerbated by tara^EP3463

(Branco et al., 2008)

is exacerbated by lncRNA:Hsrω^neo55

(Branco et al., 2008)

is exacerbated by pum^EP3461

(Branco et al., 2008)

is exacerbated by Tecr⁰⁵⁶³⁴

(Branco et al., 2008)

is ameliorated by pum^bem

(Branco et al., 2008)

is exacerbated by HDAC1⁰⁴⁵⁵⁶

(Branco et al., 2008)

is exacerbated by 14-3-3ε^UAS.cCa

(Branco et al., 2008)

is exacerbated by CtBP⁰³⁴⁶³

(Branco et al., 2008)

is ameliorated by 14-3-3ε^ex4

(Branco et al., 2008)

is ameliorated by ps³

(Branco et al., 2008)

is ameliorated by 14-3-3ε^j2B10

(Branco et al., 2008)

is ameliorated by ps^j449

(Branco et al., 2008)

is exacerbated by RhoGAPp190^EP1357

(Branco et al., 2008)

is ameliorated by Nup44A^EP2417

(Branco et al., 2008)

is exacerbated by Akt^UAS.Tag:HA

(Branco et al., 2008)

is ameliorated by Diap1^{UAS.cHa.Tag:MYC}

(Branco et al., 2008)

is ameliorated by Akt⁰⁴²²⁶

(Branco et al., 2008)

is ameliorated by mub^EP3623

(Branco et al., 2008)

is exacerbated by mub⁰⁴⁰⁹³

(Branco et al., 2008)

is ameliorated by vib^EP651

(Branco et al., 2008)

is exacerbated by sov^KG00226

(Branco et al., 2008)

is ameliorated by sov^KG00226

(Branco et al., 2008)

is exacerbated by Pi3K92E^UAS.Tag:MYC

(Branco et al., 2008)

is exacerbated by Hsap\NLK^UAS.cJa

(Ju et al., 2013)

is ameliorated by nmo^adk2

(Ju et al., 2013)

model of neurodegenerative disease

is ameliorated by lncRNA:Hsrω^RNAi.Sym.UAS

(Mallik and Lakhotia, 2009)

is ameliorated by Nmnat^UAS.cZa

(Zhai et al., 2008)

is ameliorated by Nmnat^WR.UAS.PD

(Zhai et al., 2008)

is exacerbated by grp^GS22185

(Barclay et al., 2014)

is exacerbated by RPA1^NIG.9633R

(Barclay et al., 2014)

is ameliorated by RecQ5^GS9658

(Barclay et al., 2014)

is ameliorated by grp^NIG.17161R

(Barclay et al., 2014)

is ameliorated by RPA1^GS10684

(Barclay et al., 2014)

model of spinocerebellar ataxia 1

is ameliorated by Pak3^KK111386

(Bondar et al., 2018)

is exacerbated by Hsap\TARDBP^GMR.PJ

(Tazelaar et al., 2020)

is exacerbated by Zzzz\poly-GR^PO-36.UAS

(Tazelaar et al., 2020)

is ameliorated by tefu^KK100008

(Suart et al., 2021)

is ameliorated by tefu^MB09945

(Suart et al., 2021)

is exacerbated by Hsap\RBFOX1^UAS.Tag:HA

(Olmos et al., 2024)

is ameliorated by Rbfox1^HMS00478

(Olmos et al., 2024)

is ameliorated by GLaz^4.2kb.GFP

(Del Caño-Espinel et al., 2015)

is ameliorated by NLaz^UAS.cHTa

(Del Caño-Espinel et al., 2015)

is exacerbated by Hsap\ZBTB7B^UAS.cLa

(Lee et al., 2021)

is ameliorated by S6kII^HMC03140

(Lee et al., 2021)

is ameliorated by S6kII^KK109199

(Lee et al., 2021)

is exacerbated by S6kII^UAS.cBa

(Lee et al., 2021)

is ameliorated by Hsp110^HMS01080

(Na et al., 2023)

is ameliorated by Pdk1^JF02807

(Na et al., 2023)

is ameliorated by sgg^GL00277

(Na et al., 2023)

Hsap\ATXN1^2Q.UAS

model of autosomal dominant cerebellar ataxia

is ameliorated by Hsap\STUB1^UAS.cAa

(Al-Ramahi et al., 2006)

Hsap\ATXN1^{85Q.UAS.Tag:MYC}

model of neurodegenerative disease

is ameliorated by TER94^GS10258

(Fujita et al., 2013)

Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)

Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.

Homo sapiens (Human)

Gene name

Score

OMIM

OMIM Phenotype

DO term

Complementation?

Transgene?

Functional Complementation Data

Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.

Interactions

Summary of Physical Interactions

Interaction Browsers

Summary of Genetic Interactions

Interaction Browsers

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

External Data

Linkouts

Class of Gene

engineered_foreign_gene

Stocks and Reagents

Stocks (4)

Bloomington

33818

w¹¹¹⁸; P{UAS-Hsap\ATX1.82Q}M6

39738

P{UAS-Hsap\ATX1.2Q}F5, y¹ w^*

39740

P{UAS-Hsap\ATX1.82Q}F7, y¹ w^*

39739

y¹ w^*; P{GAL4-ninaE.GMR}12/CyO; P{UAS-Hsap\ATX1.30Q}F6

Other Comments

Relationship to Other Genes

Source for database merge of

Additional comments

Nomenclature History

Source for database identify of

Source for identity of: Hsap\ATXN1 Hsap\ATX1

(FlyBase, 2009-)

Nomenclature comments

Etymology

Synonyms and Secondary IDs (24)

Reported As

Symbol Synonym

ATX1

(Tazelaar et al., 2020, Fernius et al., 2017, HGNC Curators and FlyBase Curators, 2013-)

ATXN1

(Parra-Torres et al., 2026, Olmos et al., 2024, Sousa et al., 2023, Lee et al., 2022, Bondar et al., 2018, HGNC Curators and FlyBase Curators, 2013-, Ju et al., 2013, Park et al., 2013, Lim et al., 2008, Tong and Tsai, 2007)

Atxn1

(Barclay et al., 2014, Fujita et al., 2013)

D6S504E

(HGNC Curators and FlyBase Curators, 2013-)

Hsap\ATX1

Hsap\ATXN1

(Bhattacharjee et al., 2019)

Sca1

(Qurashi et al., 2012)

ataxin-1

(Atienzar-Aroca et al., 2024, Kim et al., 2020, Fernandez-Funez et al., 2000, She et al., 2000, She et al., 1999)

hATX1

(Park et al., 2021)

hATXN1

(Del Caño-Espinel et al., 2015)

hAtx-1

(Zhai et al., 2008)

hAtx1

(McGurk and Bonini, 2012)

hAtxn1

(Barclay et al., 2014)

hSCA1

(Barclay et al., 2014)

Name Synonyms

ATAXIN1

(Ju et al., 2013)

Ataxin

(Branco et al., 2008)

Ataxin-1

(McGurk et al., 2015, Barclay et al., 2014, Branco et al., 2008)

Ataxin1

(Chung et al., 2017)

ataxin 1

(Fujita et al., 2013, HGNC Curators and FlyBase Curators, 2013-)

ataxin-1

(Tong and Tsai, 2007)

ataxin1

(Lee et al., 2011)

spinocerebellar ataxia 1

(Zhai et al., 2008)

spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)

(HGNC Curators and FlyBase Curators, 2013-)

spinocerebellar ataxia type 1

(Lee et al., 2011, Lakhotia, 2003)

Secondary FlyBase IDs

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

External Crossreferences and Linkouts ( 6 )

Sequence Crossreferences

NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

6310

Other crossreferences

Ensembl_Homo_sapiens -

ENSG00000124788

HUGO Gene Nomenclature Committee -

ATXN1; ataxin 1

MARRVEL - MARRVEL (human gene)

ATXN1

OMIM_GENE - Online Mendelian Inheritance in Man (Genes)

ATAXIN 1; ATXN1

OMIM_PHENOTYPE - Online Mendelian Inheritance in Man (Phenotypes)

SPINOCEREBELLAR ATAXIA 1; SCA1

References (74)

Report Sections