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> Protein (NX_P54253)
Protein (NX_P54253)
Protein
Gene SymbolATXN1 to neXtProt (NX_P54253)
DescriptionAtaxin-1
Chromosome6
Location6p22.3 (16299343 ~ 16761722) to Ensembl
Sequene Features : Isoforms 1, Variants 134, PTMs 10 to neXtProt Sequence Features
Gene
Ontologies
GO: Biological Process GO: Mulecular Function GO: Cellular Component
.regulation of excitatory postsynaptic membrane potential
.nuclear export
.lung alveolus development
  + 9 more...
.protein self-association
.identical protein binding
.poly(G) binding
  + 4 more...
.intracellular membrane-bounded organelle
.nuclear inclusion body
.nuclear matrix
  + 3 more...
Proteomic Evidences
ReleaseProtein EvidencePrAbIsoformsVariantsPTMs
2015-01-01protein level
1 134 10
2014-09-19protein level
1 99 10
2014-05-27protein level
1 99 10
2014-02-25protein level
1 97 10
2013-12-09protein level
1 85 10
2013-11-01protein level
1 78 10
2013-09-12protein level
1 78 10
2013-08-17protein level
1 78 10
2013-07-15protein level
1 53 10
2013-06-11protein level
1 53 10
2013-02-12protein level
1 35 8
2012-12-20protein level
1 33 8
2012-10-30protein level
1 36 8
2012-10-07protein level
1 36 8
2012-08-24protein level
1 22 8
2012-07-28protein level
1 22 8
2012-06-08protein level
1 35 8
2012-05-07protein level
1 35 8
2012-04-10protein level
1 35 8
2012-01-13protein level
1 28 8
2011-12-20protein level
1 28 8
2011-11-11protein level
1 28 8
2011-08-23protein level
1 28 8
Protein Isoforms
Isoform Ac UGSMw (Da)
NX_P54253-1
33 0 0 86868.9152
: Uniquely mapped peptide
: Gene-specific peptide
: Shared peptide
Interacting Partners
No. Exp. ref. Symbol   PE Pr Ab Di   GO: Biological Process GO: Mulecular Function GO: Cellular Component
1 EBI-930964,EBI-746056 RBFOX2  
  .neuromuscular process controlling balance
.dendrite morphogenesis
.negative regulation of transcription, DNA-templated
  + 8 more...
.poly(A) RNA binding
.transcription factor binding
.mRNA binding
  + 3 more...
.cytoplasm
.nucleoplasm
.nucleus
2 EBI-930964,EBI-355720 NUDT21  
  .protein tetramerization
.mRNA 3'-end processing
.gene expression
  + 6 more...
.poly(A) RNA binding
.histone deacetylase binding
.protein homodimerization activity
  + 3 more...
.paraspeckles
.mRNA cleavage factor complex
.centrosome
  + 2 more...
3 EBI-930964,EBI-739806 CCNK  
  .positive regulation of phosphorylation of RNA polymerase II C-terminal domain serine 2 residues
.negative regulation of cell cycle arrest
.cell division
  + 8 more...
.protein kinase binding
.RNA polymerase II carboxy-terminal domain kinase activity
.cyclin-dependent protein serine/threonine kinase activity
.nucleus
.cyclin K-CDK13 complex
.cyclin K-CDK12 complex
4 EBI-930964,EBI-722264 HIVEP1  
  .transcription, DNA-templated
.negative regulation of transcription from RNA polymerase II promoter
.metal ion binding
.DNA binding
.mitochondrion
.nucleoplasm
.nucleus
5 EBI-930964,EBI-352733 CFL1  
  .regulation of dendritic spine morphogenesis
.ephrin receptor signaling pathway
.negative regulation of cell size
  + 21 more...
.N/A .extracellular exosome
.ruffle membrane
.vesicle
  + 9 more...
6 EBI-930964,EBI-742339 U2AF2  
  .negative regulation of mRNA splicing, via spliceosome
.positive regulation of RNA splicing
.mRNA 3'-end processing
  + 7 more...
.poly(A) RNA binding
.enzyme binding
.nucleotide binding
.nuclear speck
.spliceosomal complex
.nucleoplasm
7 EBI-930975,EBI-945751 COIL  
  .N/A .identical protein binding
.protein C-terminus binding
.membrane
.Cajal body
.cytoplasm
  + 3 more...
8 EBI-930964,EBI-886 CRK  
  .ephrin receptor signaling pathway
.neurotrophin TRK receptor signaling pathway
.vascular endothelial growth factor receptor signaling pathway
  + 9 more...
.ephrin receptor binding
.SH2 domain binding
.extracellular exosome
.actin cytoskeleton
.plasma membrane
  + 3 more...
9 EBI-930964,EBI-347545 PRRC2A  
  .N/A .poly(A) RNA binding .extracellular exosome
.intracellular membrane-bounded organelle
.membrane
  + 2 more...
10 EBI-930964,EBI-945994 IST1  
  .activation of mitophagy in response to mitochondrial depolarization
.cell division
.positive regulation of collateral sprouting
  + 8 more...
.MIT domain binding
.protein complex binding
.protein domain specific binding
.Flemming body
.extracellular exosome
.midbody
  + 4 more...
11 EBI-930964,EBI-10172814 PRR20C  
  .N/A .N/A .N/A
12 EBI-930964,EBI-948603 ARID5A  
  .positive regulation of transcription from RNA polymerase II promoter
.negative regulation of transcription, DNA-templated
.positive regulation of histone acetylation
  + 3 more...
.transcription regulatory region DNA binding
.chromatin binding
.DNA binding
.nucleolus
.transcription factor complex
.nucleoplasm
.nucleus
13 EBI-930964,EBI-307352 REL  
  .negative regulation of neuron death
.positive regulation of transcription from RNA polymerase II promoter
.innate immune response
  + 10 more...
.sequence-specific DNA binding transcription factor activity
.chromatin binding
.RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
.RNA polymerase II distal enhancer sequence-specific DNA binding
.I-kappaB/NF-kappaB complex
.cytosol
.transcription factor complex
  + 2 more...
14 EBI-930964,EBI-632552 RBPJ  
  .positive regulation of cell proliferation involved in heart morphogenesis
.positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment
.positive regulation of ephrin receptor signaling pathway
  + 46 more...
.sequence-specific DNA binding
.transcription factor binding
.sequence-specific DNA binding transcription factor activity
  + 7 more...
.cytoplasm
.nucleolus
.transcription factor complex
  + 3 more...
15 EBI-930964,EBI-355744 TRAF2  
  .positive regulation of extrinsic apoptotic signaling pathway
.regulation of extrinsic apoptotic signaling pathway via death domain receptors
.negative regulation of neuron death
  + 35 more...
.sphingolipid binding
.identical protein binding
.thioesterase binding
  + 10 more...
.IRE1-TRAF2-ASK1 complex
.TRAF2-GSTP1 complex
.membrane raft
  + 7 more...
16 EBI-930964,EBI-742790 TRIM32  
  .positive regulation of cell motility
.negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
.negative regulation of viral release from host cell
  + 21 more...
.ubiquitin protein ligase activity
.protein self-association
.ubiquitin binding
  + 8 more...
.striated muscle myosin thick filament
.cytosol
.cytoplasm
.nucleus
17 EBI-930964,EBI-724310 DAZAP2  
  .N/A .WW domain binding .cytoplasm
.nucleus
18 EBI-930964,EBI-948278 RCN1  
  .camera-type eye development
.in utero embryonic development
.calcium ion binding .endoplasmic reticulum lumen
.endoplasmic reticulum
19 EBI-930964,EBI-740929 KLHL12  
  .negative regulation of canonical Wnt signaling pathway
.COPII vesicle coating
.Wnt signaling pathway
  + 2 more...
.N/A .Cul3-RING ubiquitin ligase complex
.ER to Golgi transport vesicle
.cytosol
.Golgi membrane
20 EBI-930964,EBI-10213520 ESRP1  
  .regulation of RNA splicing
.RNA splicing
.mRNA processing
.mRNA binding
.nucleotide binding
.nucleus
21 EBI-930964,EBI-946029 C1orf94  
  .N/A .N/A .N/A
22 EBI-930964,EBI-946185 USP54  
  .ubiquitin-dependent protein catabolic process .ubiquitinyl hydrolase activity .N/A
23 EBI-930964,EBI-946167 SIX5  
  .negative regulation of skeletal muscle satellite cell proliferation
.negative regulation of transcription, DNA-templated
.spermatid development
  + 2 more...
.sequence-specific DNA binding .intracellular membrane-bounded organelle
.Golgi apparatus
.cytoplasm
.nucleoplasm
24 EBI-930964,EBI-746909 CPSF7  
  .protein tetramerization
.mRNA 3'-end processing
.gene expression
  + 4 more...
.poly(A) RNA binding
.nucleotide binding
.membrane
.mRNA cleavage factor complex
.nucleoplasm
.nucleus
25 EBI-930964,EBI-946189 ELP5  
  .positive regulation of cell migration
.regulation of transcription, DNA-templated
.transcription, DNA-templated
.chromatin organization
.N/A .Elongator holoenzyme complex
.cytoplasm
.nucleus
26 EBI-930964,EBI-742381 TBC1D5  
  .activation of mitophagy in response to mitochondrial depolarization
.response to starvation
.retrograde transport, endosome to Golgi
  + 4 more...
.AP-2 adaptor complex binding
.GTPase activator activity
.cytoplasmic vesicle
.retromer complex
.endosome membrane
.autophagic vacuole
27 EBI-930964,EBI-399080 KAT5  
  .positive regulation of protein acetylation
.cellular response to estradiol stimulus
.positive regulation of transcription from RNA polymerase II promoter
  + 14 more...
.repressing transcription factor binding
.androgen receptor binding
.metal ion binding
  + 2 more...
.perinuclear region of cytoplasm
.NuA4 histone acetyltransferase complex
.Piccolo NuA4 histone acetyltransferase complex
  + 6 more...
28 EBI-930964,EBI-740322 RBPMS  
  .positive regulation of SMAD protein import into nucleus
.positive regulation of pathway-restricted SMAD protein phosphorylation
.RNA processing
  + 2 more...
.poly(A) RNA binding
.poly(A) binding
.transcription coactivator activity
.nucleotide binding
.cytoplasm
.nucleoplasm
29 EBI-930964,EBI-742550 ZC3H10  
  .N/A .metal ion binding
.poly(A) RNA binding
.N/A
30 EBI-930964,EBI-948288 ZNF488  
  .positive regulation of oligodendrocyte differentiation
.negative regulation of transcription, DNA-templated
.oligodendrocyte development
  + 2 more...
.metal ion binding
.DNA binding
.sequence-specific DNA binding RNA polymerase II transcription factor activity
.nucleus
31 EBI-930964,EBI-948213 VSTM2L  
  .N/A .N/A .N/A
32 EBI-930964,EBI-945857 CIC  
  .lung alveolus development
.transcription, DNA-templated
.negative regulation of transcription from RNA polymerase II promoter
.chromatin binding
.DNA binding
.nucleus
33 EBI-930964,EBI-10191361 TBX15  
  .embryonic cranial skeleton morphogenesis .sequence-specific DNA binding transcription factor activity
.RNA polymerase II transcription corepressor activity
.transcription regulatory region sequence-specific DNA binding
.Tle3-Aes complex
34 EBI-930964,EBI-697691 ATXN2  
  .neuromuscular process
.RNA transport
.homeostasis of number of cells
  + 9 more...
.poly(A) RNA binding
.protein C-terminus binding
.epidermal growth factor receptor binding
.RNA binding
.perinuclear region of cytoplasm
.ribonucleoprotein complex
.membrane
  + 6 more...
35 EBI-930964,EBI-749353 METTL17  
  .translation .methyltransferase activity
.copper ion binding
.ribosome
.mitochondrion
.nucleoplasm
.nucleus
36 EBI-930964,EBI-946122 YY1AP1  
  .regulation of cell cycle
.regulation of transcription, DNA-templated
.transcription, DNA-templated
.N/A .cytoplasm
.nucleus
37 EBI-930964,EBI-945934 PLEKHA5  
  .reproductive system development .phosphatidylinositol-3,5-bisphosphate binding
.phosphatidylinositol-4-phosphate binding
.phosphatidylinositol-3-phosphate binding
  + 2 more...
.membrane
.cytosol
38 EBI-930964,EBI-711226 UBQLN4  
  .regulation of proteasomal ubiquitin-dependent protein catabolic process .identical protein binding
.polyubiquitin binding
.perinuclear region of cytoplasm
.cytosol
.endoplasmic reticulum membrane
  + 2 more...
39 EBI-930964,EBI-945906 RBFOX1  
  .neuromuscular process controlling balance
.RNA transport
.regulation of RNA splicing
  + 2 more...
.protein C-terminus binding
.RNA binding
.nucleotide binding
.trans-Golgi network
.cytoplasm
.nucleus
40 EBI-930964,EBI-948293 SYBU  
  .regulation of insulin secretion involved in cellular response to glucose stimulus .N/A .dense body
.intracellular membrane-bounded organelle
.cytoplasmic membrane-bounded vesicle
  + 5 more...
41 EBI-930964,EBI-947253 HSFX2  
  .transcription, DNA-templated .sequence-specific DNA binding
.sequence-specific DNA binding transcription factor activity
.cytoplasm
.nucleus
42 EBI-930964,EBI-948259 GPATCH8  
  .N/A .metal ion binding
.poly(A) RNA binding
.N/A
43 EBI-930964,EBI-347767 ZHX1  
  .negative regulation of transcription, DNA-templated
.cell differentiation
.transcription, DNA-templated
.negative regulation of transcription from RNA polymerase II promoter
.protein heterodimerization activity
.metal ion binding
.transcription corepressor activity
  + 2 more...
.nucleoplasm
.nucleus
EST expression level of Protein Coding Gene (ref. NCBI UniGene EST)
Body Sites
TissuesTPM*
adrenal gland30
ascites25
blood65
bone marrow20
brain34
cervix20
connective tissue20
embryonic tissue28
esophagus49
eye23
heart67
intestine8
kidney52
liver38
lung56
lymph node33
mammary gland72
mouth15
muscle65
nerve64
ovary68
pancreas9
parathyroid48
pituitary gland121
placenta7
prostate52
salivary gland148
skin14
stomach10
testis11
thymus87
thyroid21
trachea19
umbilical cord145
uterus112
vascular77
Health State
TissuesTPM*
normal44
breast (mammary gland) tumor42
cervical tumor28
chondrosarcoma12
colorectal tumor17
esophageal tumor57
gastrointestinal tumor16
germ cell tumor22
glioma9
head and neck tumor37
leukemia95
liver tumor41
lung tumor29
lymphoma27
non-neoplasia41
ovarian tumor65
pancreatic tumor9
prostate cancer28
skin tumor7
uterine tumor55
Developmental Stage
TissuesTPM*
adult45
embryoid body28
neonate64
fetus82
juvenile17
TPM*: Transcripts per million; transcript expression level measured by expression sequence tags.
Expression level of Protein (ref. Human Protein Atlas)
RNA-Seq.
TissuesFPKM
adipose tissue5.8
adrenal gland7
appendix11.7
bone marrow33.9
cerebral cortex11.7
colon7.9
duodenum6.5
esophagus11.5
gallbladder13.3
heart muscle7.7
kidney6.3
liver6.9
lung10.6
lymph node9.1
ovary8.2
pancreas4.6
placenta6.9
prostate9
salivary gland5
skin7.4
small intestine6.4
spleen10.3
stomach8.5
testis6.8
thyroid gland11.9
urinary bladder12.9
Cancer
TumorNumber of patients and Staining levels
breast cancer
carcinoid
cervical cancer
colorectal cancer
endometrial cancer
glioma
head and neck cancer
liver cancer
lung cancer
lymphoma
melanoma
ovarian cancer
pancreatic cancer
prostate cancer
renal cancer
skin cancer
stomach cancer
testis cancer
thyroid cancer
urothelial cancer
RNA-seq colour codes
Highly expressed RNAs (FPKM >50)
Moderately expressed RNAs (50> FPKM >10)
Lower expressed RNAs (10> FPKM >1)
The lowest expressed RNAs (FPKM value of 0 or 1)
Staining level colour codes
Highly expressed protein
Moderately expressed protein
Lower expressed protein
Not Detected
Disease
No.Disease DescriptionRef.
1(#164400, phenotype) Spinocerebellar ataxia 1; SCA1OMIM
2(*601556, gene) Ataxin 1; ATXN1OMIM


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