Details for: ATXN1

Gene ID: 6310

Symbol: ATXN1

Ensembl ID: ENSG00000124788

Description: ataxin 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 4.17
    Marker Score: 17375
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 3.69
    Marker Score: 8845
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3.62
    Marker Score: 80895
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.53
    Marker Score: 7745
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 3.52
    Marker Score: 1955
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.29
    Marker Score: 3722.5
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 3.29
    Marker Score: 10764.5
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 3.23
    Marker Score: 2486
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.14
    Marker Score: 6032
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 3.13
    Marker Score: 2780
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.95
    Marker Score: 12331
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.94
    Marker Score: 2538.5
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.93
    Marker Score: 3542
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.86
    Marker Score: 1505.5
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.86
    Marker Score: 3286
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.84
    Marker Score: 60624
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.83
    Marker Score: 1962
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.82
    Marker Score: 56149
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.82
    Marker Score: 21633
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.82
    Marker Score: 42141
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.78
    Marker Score: 3915
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.75
    Marker Score: 870
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.73
    Marker Score: 866
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.72
    Marker Score: 1585
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.69
    Marker Score: 102199
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.64
    Marker Score: 4434.5
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.59
    Marker Score: 41534
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.58
    Marker Score: 754
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 2.57
    Marker Score: 1394
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.52
    Marker Score: 10433
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.49
    Marker Score: 1232
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.47
    Marker Score: 1229
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.47
    Marker Score: 6188
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.45
    Marker Score: 8715
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.44
    Marker Score: 2328
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 2.42
    Marker Score: 876
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.42
    Marker Score: 696.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.41
    Marker Score: 88825.5
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.38
    Marker Score: 6800
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.38
    Marker Score: 996
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.3
    Marker Score: 8901.5
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.23
    Marker Score: 1465
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.22
    Marker Score: 2983.5
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.18
    Marker Score: 1302
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 2.16
    Marker Score: 559
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.15
    Marker Score: 20265
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 2.15
    Marker Score: 547.5
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.14
    Marker Score: 2369
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.14
    Marker Score: 1252
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 2.14
    Marker Score: 2580
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 2.08
    Marker Score: 2239
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.07
    Marker Score: 127547
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 2.06
    Marker Score: 2547
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 2.06
    Marker Score: 747
  • Cell Name: neuron (CL0000540)
    Fold Change: 2
    Marker Score: 8139
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.99
    Marker Score: 1722
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.97
    Marker Score: 1145
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.96
    Marker Score: 20221
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.95
    Marker Score: 6910
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.91
    Marker Score: 18110
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.88
    Marker Score: 694
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.86
    Marker Score: 15965
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.81
    Marker Score: 495
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.79
    Marker Score: 2530
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.76
    Marker Score: 2197
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.73
    Marker Score: 558
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.73
    Marker Score: 589
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.72
    Marker Score: 645
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.66
    Marker Score: 18676
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.63
    Marker Score: 1710.5
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.62
    Marker Score: 534
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.61
    Marker Score: 505
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.61
    Marker Score: 607
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.59
    Marker Score: 2449
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.58
    Marker Score: 10132.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.56
    Marker Score: 3670
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.55
    Marker Score: 8320
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.52
    Marker Score: 913
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.52
    Marker Score: 848
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.49
    Marker Score: 869
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.47
    Marker Score: 3591
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.46
    Marker Score: 703
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.45
    Marker Score: 1026
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.43
    Marker Score: 1517
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.42
    Marker Score: 6149
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.4
    Marker Score: 2849
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.4
    Marker Score: 1496
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 1.37
    Marker Score: 426
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.37
    Marker Score: 1033
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.37
    Marker Score: 407
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.35
    Marker Score: 589
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.35
    Marker Score: 21106
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.33
    Marker Score: 3258
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.32
    Marker Score: 3710
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.31
    Marker Score: 503
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.29
    Marker Score: 4429
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.27
    Marker Score: 5888
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.27
    Marker Score: 1083
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 1.27
    Marker Score: 1259
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.26
    Marker Score: 1629

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Other Information

**Key Characteristics:** ATXN1 is a 454-amino acid protein that belongs to the ubiquitin-like protein family. It is primarily expressed in neurons, muscle cells, and epithelial cells, with highest levels detected in the brain, heart, and lungs. ATXN1 is characterized by its ability to bind to various proteins, including ubiquitin, heat shock proteins, and other ATXN1 homologs. This protein is also known to interact with RNA-binding proteins and influence RNA processing and transcription. **Pathways and Functions:** ATXN1 is involved in multiple cellular pathways, including: 1. **Neurotransmission and Synaptic Plasticity**: ATXN1 regulates the expression of neurotransmitter receptors and modulates synaptic plasticity, which is essential for learning and memory. 2. **Protein Degradation**: ATXN1 acts as a ubiquitin ligase, targeting proteins for degradation and maintaining protein homeostasis. 3. **RNA Processing and Translation**: ATXN1 interacts with RNA-binding proteins to regulate RNA processing, translation, and degradation. 4. **Cell Signaling and Apoptosis**: ATXN1 modulates cell signaling pathways, including the mitogen-activated protein kinase (MAPK) and PI3K/AKT pathways, and regulates apoptosis. **Clinical Significance:** Dysregulation of ATXN1 has been linked to various human diseases, including: 1. ** spinocerebellar ataxia type 1 (SCA1)**: A neurodegenerative disorder characterized by progressive ataxia, dysarthria, and loss of coordination. 2. **Frontotemporal dementia (FTD)**: A group of neurodegenerative disorders affecting the frontal and temporal lobes, leading to cognitive decline, personality changes, and motor dysfunction. 3. **Amyotrophic lateral sclerosis (ALS)**: A progressive neurodegenerative disorder affecting motor neurons, leading to muscle weakness and paralysis. ATXN1 mutations or expansions, particularly the CAG repeat expansion, are associated with an increased risk of developing these diseases. Understanding the molecular mechanisms underlying ATXN1 dysfunction is crucial for developing effective therapeutic strategies to prevent or treat these devastating conditions. **Conclusion:** In conclusion, ATXN1 is a multifunctional protein that plays a critical role in maintaining cellular homeostasis and regulating various cellular processes. Its dysregulation has been linked to several human diseases, highlighting the need for further research into the molecular mechanisms underlying ATXN1 dysfunction. As an expert immunologist, I emphasize the importance of continued investigation into the complex relationships between ATXN1 and human health, with the ultimate goal of developing effective treatments for these debilitating diseases.

Genular Protein ID: 3360840017

Symbol: ATX1_HUMAN

Name: Ataxin-1

UniProtKB Accession Codes:

P54253 Q17S02 Q9UJG2 Q9Y4J1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MoonDB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 7 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SAM 1 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7951322

Title: Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

PubMed ID: 7951322

DOI: 10.1038/ng0894-513

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8634720

Title: A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.

PubMed ID: 8634720

DOI: 10.1093/hmg/4.12.2411

PubMed ID: 7647801

Title: Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals.

PubMed ID: 7647801

DOI: 10.1038/ng0595-94

PubMed ID: 9097953

Title: Identification of a self-association region within the SCA1 gene product, ataxin-1.

PubMed ID: 9097953

DOI: 10.1093/hmg/6.4.513

PubMed ID: 9353121

Title: The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1.

PubMed ID: 9353121

DOI: 10.1038/40159

PubMed ID: 11136710

Title: The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.

PubMed ID: 11136710

DOI: 10.1093/hmg/10.1.25

PubMed ID: 11001934

Title: Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein.

PubMed ID: 11001934

DOI: 10.1093/oxfordjournals.hmg.a018922

PubMed ID: 12062018

Title: Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death.

PubMed ID: 12062018

DOI: 10.1016/s0896-6273(02)00697-9

PubMed ID: 12093161

Title: USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product.

PubMed ID: 12093161

DOI: 10.1006/mcne.2002.1103

PubMed ID: 12741986

Title: Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice.

PubMed ID: 12741986

DOI: 10.1016/s0896-6273(03)00258-7

PubMed ID: 16121196

Title: Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1.

PubMed ID: 16121196

DOI: 10.1038/sj.emboj.7600785

PubMed ID: 15824120

Title: SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal.

PubMed ID: 15824120

DOI: 10.1074/jbc.m501677200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21475249

Title: Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway.

PubMed ID: 21475249

DOI: 10.1038/embor.2011.49

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25768905

Title: Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.

PubMed ID: 25768905

DOI: 10.1016/j.cell.2015.02.012

PubMed ID: 14583607

Title: The structure of the AXH domain of spinocerebellar ataxin-1.

PubMed ID: 14583607

DOI: 10.1074/jbc.m309817200

Sequence Information:

  • Length: 815
  • Mass: 86923
  • Checksum: 657876F8FD19ECB2
  • Sequence:
    • MKSNQERSNE CLPPKKREIP ATSRSSEEKA PTLPSDNHRV EGTAWLPGNP GGRGHGGGRH 
GPAGTSVELG LQQGIGLHKA LSTGLDYSPP SAPRSVPVAT TLPAAYATPQ PGTPVSPVQY 
AHLPHTFQFI GSSQYSGTYA SFIPSQLIPP TANPVTSAVA SAAGATTPSQ RSQLEAYSTL 
LANMGSLSQT PGHKAEQQQQ QQQQQQQQHQ HQQQQQQQQQ QQQQQHLSRA PGLITPGSPP 
PAQQNQYVHI SSSPQNTGRT ASPPAIPVHL HPHQTMIPHT LTLGPPSQVV MQYADSGSHF 
VPREATKKAE SSRLQQAIQA KEVLNGEMEK SRRYGAPSSA DLGLGKAGGK SVPHPYESRH 
VVVHPSPSDY SSRDPSGVRA SVMVLPNSNT PAADLEVQQA THREASPSTL NDKSGLHLGK 
PGHRSYALSP HTVIQTTHSA SEPLPVGLPA TAFYAGTQPP VIGYLSGQQQ AITYAGSLPQ 
HLVIPGTQPL LIPVGSTDME ASGAAPAIVT SSPQFAAVPH TFVTTALPKS ENFNPEALVT 
QAAYPAMVQA QIHLPVVQSV ASPAAAPPTL PPYFMKGSII QLANGELKKV EDLKTEDFIQ 
SAEISNDLKI DSSTVERIED SHSPGVAVIQ FAVGEHRAQV SVEVLVEYPF FVFGQGWSSC 
CPERTSQLFD LPCSKLSVGD VCISLTLKNL KNGSVKKGQP VDPASVLLKH SKADGLAGSR 
HRYAEQENGI NQGSAQMLSE NGELKFPEKM GLPAAPFLTK IEPSKPAATR KRRWSAPESR 
KLEKSEDEPP LTLPKPSLIP QEVKICIEGR SNVGK

Genular Protein ID: 1543960717

Symbol: Q96FF1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q96FF1

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 Genevisible 1 GenomeRNAi 1 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 RefSeq 2

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 114
  • Mass: 12564
  • Checksum: 27E2055FFA05B4F2
  • Sequence:
    • GEERAEYTAD IISTTVAEPY RTCFTAGGSK TSPVEQQPEQ QQPQDIVSLL LPPLPHATPD 
PFTLYSHRTE SAGGHLFLPQ DLRWKSPGLG VFAVQSVYEL ARRHNVSPFY SGPP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.