ATXN1 [The Human Chemical-Genetic Interaction Map Project]

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======= ATXN1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ATXN1
  * **<color #00a2e8>Official Name</color>**: ataxin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6310|6310]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P54253|P54253]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ATXN1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ATXN1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601556|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity). {ECO:0000250|UniProtKB:P54254, ECO:0000269|PubMed:21475249}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|AXH|
|ATXN-1 C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|poly(G) binding|
|nuclear inclusion body|
|poly(U) RNA binding|
|intraspecies interaction between organisms|
|social behavior|
|protein self-association|
|multi-organism behavior|
|nuclear matrix|
|memory|
|learning|
|nuclear export|
|protein C-terminus binding|
|learning or memory|
|nucleocytoplasmic transport|
|nuclear transport|
|cognition|
|behavior|
|brain development|
|head development|
|nucleolus|
|negative regulation of transcription by RNA polymerase II|
|RNA processing|
|central nervous system development|
|identical protein binding|
|negative regulation of transcription, DNA-templated|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of RNA metabolic process|
|nervous system process|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|DNA binding|
|negative regulation of macromolecule biosynthetic process|
|negative regulation of cellular biosynthetic process|
|intracellular transport|
|negative regulation of biosynthetic process|
|RNA metabolic process|
|negative regulation of gene expression|
|establishment of localization in cell|
|system process|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp459|Bleomycin 5μM R08 exp459]]|-2.03|
|[[:results:exp451|Atovaquone 15μM R08 exp451]]|-1.84|
|[[:results:exp527|Tanespimycin 14μM R08 exp527]]|-1.79|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|-1.72|
|[[:results:exp73|LJH685 5μM R02 exp73]]|1.82|
|[[:results:exp518|RK-33 8μM R08 exp518]]|1.84|
|[[:results:exp18|Doxycycline 10μM R00 exp18]]|1.86|
|[[:results:exp12|Chloramphenicol 2μM R00 exp12]]|1.91|
|[[:results:exp519|RS-1 10μM R08 exp519]]|1.92|
|[[:results:exp16|DABN 2μM R00 exp16]]|1.97|
|[[:results:exp52|Ribavirin 10μM R01 exp52]]|2.13|
|[[:results:exp50|Nicotinamide 2000μM R01 exp50]]|2.25|
|[[:results:exp58|UM131593 0.1μM R01 exp58]]|2.35|
|[[:results:exp53|Suberoylanilide-Hydroxamic-Acid 0.02μM R01 exp53]]|2.56|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:psmd11|PSMD11]]|0.516|
|[[:human genes:v:vasn|VASN]]|0.508|
|[[:human genes:d:ddtl|DDTL]]|0.492|
|[[:human genes:t:tp53tg3b|TP53TG3B]]|0.486|
|[[:human genes:t:tp53tg3|TP53TG3]]|0.485|
|[[:human genes:t:tp53tg3c|TP53TG3C]]|0.484|
|[[:human genes:s:supt6h|SUPT6H]]|0.474|
|[[:human genes:t:tbc1d3g|TBC1D3G]]|0.473|
|[[:human genes:r:rrm1|RRM1]]|0.472|
|[[:human genes:p:pan3|PAN3]]|0.472|
|[[:human genes:c:chd4|CHD4]]|0.466|
|[[:human genes:m:mt1e|MT1E]]|0.466|
|[[:human genes:u:ubap1|UBAP1]]|0.464|
|[[:human genes:s:slc6a17|SLC6A17]]|0.462|
|[[:human genes:p:pan2|PAN2]]|0.46|
|[[:human genes:k:kctd17|KCTD17]]|0.457|
|[[:human genes:a:aamp|AAMP]]|0.45|
|[[:human genes:p:psmd1|PSMD1]]|0.447|
|[[:human genes:z:znf106|ZNF106]]|0.445|
|[[:human genes:n:nop16|NOP16]]|0.444|
|[[:human genes:t:tceb3cl2|TCEB3CL2]]|0.443|
|[[:human genes:o:orc6|ORC6]]|0.442|
|[[:human genes:s:ssh2|SSH2]]|0.44|
|[[:human genes:z:zfand5|ZFAND5]]|0.439|
|[[:human genes:m:med12|MED12]]|0.439|
|[[:human genes:p:psma6|PSMA6]]|0.438|
|[[:human genes:p:prpf4|PRPF4]]|0.437|
|[[:human genes:c:cdc73|CDC73]]|0.434|
|[[:human genes:a:acsf2|ACSF2]]|0.434|
|[[:human genes:t:tbc1d3c|TBC1D3C]]|0.434|
|[[:human genes:n:ndc80|NDC80]]|0.432|
|[[:human genes:v:vps54|VPS54]]|0.432|
|[[:human genes:t:tbc1d3h|TBC1D3H]]|0.43|
|[[:human genes:d:dtl|DTL]]|0.428|
|[[:human genes:s:sfpq|SFPQ]]|0.426|
|[[:human genes:i:igfn1|IGFN1]]|0.426|
|[[:human genes:c:chga|CHGA]]|0.425|
|[[:human genes:t:tfip11|TFIP11]]|0.425|
|[[:human genes:a:ankle1|ANKLE1]]|0.425|
|[[:human genes:t:twistnb|TWISTNB]]|0.425|
|[[:human genes:c:clptm1|CLPTM1]]|0.425|
|[[:human genes:r:rbm39|RBM39]]|0.424|
|[[:human genes:s:slc23a3|SLC23A3]]|0.421|
|[[:human genes:m:myt1l|MYT1L]]|0.42|
|[[:human genes:t:tceb3c|TCEB3C]]|0.42|
|[[:human genes:h:hap1|HAP1]]|0.419|
|[[:human genes:h:hist1h4b|HIST1H4B]]|0.419|
|[[:human genes:p:psmc2|PSMC2]]|0.418|
|[[:human genes:c:ctr9|CTR9]]|0.418|
|[[:human genes:g:gar1|GAR1]]|0.418|
|[[:human genes:c:c1qtnf9b|C1QTNF9B]]|0.418|
|[[:human genes:t:tceb3cl|TCEB3CL]]|0.417|
|[[:human genes:c:c14orf93|C14orf93]]|0.416|
|[[:human genes:n:npipb5|NPIPB5]]|0.416|
|[[:human genes:t:tsg101|TSG101]]|0.415|
|[[:human genes:e:ell|ELL]]|0.414|
|[[:human genes:s:sec13|SEC13]]|0.414|
|[[:human genes:s:s1pr4|S1PR4]]|0.413|
|[[:human genes:t:trim52|TRIM52]]|0.412|
|[[:human genes:t:tbc1d3f|TBC1D3F]]|0.412|
|[[:human genes:a:akirin2|AKIRIN2]]|0.412|
|[[:human genes:d:disp2|DISP2]]|0.411|
|[[:human genes:d:ddt|DDT]]|0.41|
|[[:human genes:m:myb|MYB]]|0.41|
|[[:human genes:r:rps12|RPS12]]|0.409|
|[[:human genes:o:orc1|ORC1]]|0.409|
|[[:human genes:c:c11orf68|C11orf68]]|0.409|
|[[:human genes:s:sf3a3|SF3A3]]|0.407|
|[[:human genes:r:rfpl3|RFPL3]]|0.407|
|[[:human genes:k:kpnb1|KPNB1]]|0.406|
|[[:human genes:c:copg1|COPG1]]|0.405|
|[[:human genes:t:topbp1|TOPBP1]]|0.405|
|[[:human genes:u:uqcrh|UQCRH]]|0.405|
|[[:human genes:r:rps2|RPS2]]|0.404|
|[[:human genes:r:rpsa|RPSA]]|0.404|
|[[:human genes:n:narfl|NARFL]]|0.404|
|[[:human genes:a:arhgef35|ARHGEF35]]|0.404|
|[[:human genes:c:chmp2a|CHMP2A]]|0.403|
|[[:human genes:s:scaf1|SCAF1]]|0.403|
|[[:human genes:n:nup54|NUP54]]|0.402|
|[[:human genes:l:lamc3|LAMC3]]|0.401|
|[[:human genes:p:psmc6|PSMC6]]|0.401|
|[[:human genes:f:fam86b2|FAM86B2]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1523
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.59 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ATXN1 Expression in NALM6 Cells: -0.59'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>