Details for: ATXN7

Gene ID: 6314

Symbol: ATXN7

Ensembl ID: ENSG00000163635

Description: ataxin 7

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 244.1251
    Cell Significance Index: -37.9700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 146.8992
    Cell Significance Index: -37.2600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 86.2911
    Cell Significance Index: -40.7400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 85.6354
    Cell Significance Index: -34.7900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 77.5878
    Cell Significance Index: -39.9100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 60.7879
    Cell Significance Index: -40.7900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 36.6067
    Cell Significance Index: -34.9500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 31.7489
    Cell Significance Index: -39.1500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.0172
    Cell Significance Index: -37.5500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.7555
    Cell Significance Index: -33.0400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.5548
    Cell Significance Index: -23.1000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.0227
    Cell Significance Index: -39.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 2.4892
    Cell Significance Index: 361.8300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0577
    Cell Significance Index: 412.7800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.1795
    Cell Significance Index: 14.0600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.0816
    Cell Significance Index: 21.1100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.0769
    Cell Significance Index: 60.4300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.9683
    Cell Significance Index: 42.8300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.9508
    Cell Significance Index: 24.4400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.9399
    Cell Significance Index: 35.5900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.9212
    Cell Significance Index: 25.7500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8728
    Cell Significance Index: 66.9800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.8560
    Cell Significance Index: 307.0200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.8257
    Cell Significance Index: 14.1500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.6874
    Cell Significance Index: 10.4400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5753
    Cell Significance Index: 15.4200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5112
    Cell Significance Index: 62.8600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4872
    Cell Significance Index: 29.2500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4699
    Cell Significance Index: 54.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4081
    Cell Significance Index: 73.5600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3978
    Cell Significance Index: 275.1300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3302
    Cell Significance Index: 9.5200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2519
    Cell Significance Index: 159.9900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2384
    Cell Significance Index: 45.3600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2378
    Cell Significance Index: 129.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2268
    Cell Significance Index: 31.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.2072
    Cell Significance Index: 382.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2061
    Cell Significance Index: 317.2600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1877
    Cell Significance Index: 169.4600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1630
    Cell Significance Index: 306.9500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1579
    Cell Significance Index: 17.1800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1131
    Cell Significance Index: 2.4500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1014
    Cell Significance Index: 46.0400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0891
    Cell Significance Index: 121.1700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0778
    Cell Significance Index: 3.6600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0755
    Cell Significance Index: 7.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0269
    Cell Significance Index: 4.3800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0046
    Cell Significance Index: 0.3200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0030
    Cell Significance Index: -0.1100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0098
    Cell Significance Index: -0.2800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0146
    Cell Significance Index: -0.3200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0287
    Cell Significance Index: -21.2500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0322
    Cell Significance Index: -5.5000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0326
    Cell Significance Index: -24.7000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0416
    Cell Significance Index: -1.1100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0608
    Cell Significance Index: -34.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0639
    Cell Significance Index: -3.9300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0727
    Cell Significance Index: -45.4000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0812
    Cell Significance Index: -1.5000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1198
    Cell Significance Index: -34.4800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1202
    Cell Significance Index: -6.2600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.1447
    Cell Significance Index: -14.3100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1447
    Cell Significance Index: -18.5500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1605
    Cell Significance Index: -8.3400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1942
    Cell Significance Index: -40.9100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2480
    Cell Significance Index: -5.3000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2575
    Cell Significance Index: -13.5200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2777
    Cell Significance Index: -28.9100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2948
    Cell Significance Index: -19.8200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2953
    Cell Significance Index: -4.2400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2992
    Cell Significance Index: -13.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3083
    Cell Significance Index: -19.4300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3202
    Cell Significance Index: -36.6800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3918
    Cell Significance Index: -4.8600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4728
    Cell Significance Index: -28.9900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4763
    Cell Significance Index: -10.1100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4952
    Cell Significance Index: -4.5600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5435
    Cell Significance Index: -25.3400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.5569
    Cell Significance Index: -8.0100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.5886
    Cell Significance Index: -14.1200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6094
    Cell Significance Index: -19.4100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6170
    Cell Significance Index: -20.2000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6246
    Cell Significance Index: -20.0100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.6870
    Cell Significance Index: -18.7000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.6916
    Cell Significance Index: -11.6500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.7379
    Cell Significance Index: -25.6400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.7397
    Cell Significance Index: -18.4900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7500
    Cell Significance Index: -10.7400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.7682
    Cell Significance Index: -15.1900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.7820
    Cell Significance Index: -39.5200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.7867
    Cell Significance Index: -27.5600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.8089
    Cell Significance Index: -16.2400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.8368
    Cell Significance Index: -10.4400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.8881
    Cell Significance Index: -15.3100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.8954
    Cell Significance Index: -19.3500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.9093
    Cell Significance Index: -11.6600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9131
    Cell Significance Index: -33.5200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.9166
    Cell Significance Index: -39.8600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.9261
    Cell Significance Index: -23.1000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.9590
    Cell Significance Index: -7.8200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ATXN7 is a small, cytosolic protein that exhibits a high degree of cellular expression, with significant levels detected in various cell types, including pancreatic cells, prostate gland cells, and neurons. The protein's expression is also notable in immune cells, such as CD8-positive, alpha-beta memory T cells and L2/3-6 intratelencephalic projecting glutamatergic neurons. ATXN7's unique cellular localization and expression pattern suggest its involvement in various cellular processes, including protein modification, transcriptional regulation, and microtubule organization. **Pathways and Functions:** ATXN7's involvement in multiple cellular pathways is a testament to its multifaceted role in maintaining cellular homeostasis. Some of the key pathways and functions associated with ATXN7 include: 1. **Deubiquitination:** ATXN7 has been shown to possess deubiquitinating activity, which is essential for regulating protein turnover and maintaining cellular homeostasis. 2. **Histone acetylation:** ATXN7 interacts with histone acetyltransferases (HATs), which suggests its role in regulating chromatin structure and transcriptional activity. 3. **Protein binding:** ATXN7's ability to bind to various proteins, including transcription factors and microtubule-associated proteins, underscores its involvement in protein-protein interactions and cellular signaling. 4. **Microtubule organization:** ATXN7's interaction with microtubule-associated proteins and its role in regulating microtubule dynamics suggest its involvement in maintaining microtubule organization and stability. **Clinical Significance:** ATXN7's involvement in various cellular processes and its expression in immune cells make it an attractive candidate for studying immunological disorders. Some potential clinical implications of ATXN7 include: 1. **Immunological diseases:** ATXN7's role in regulating protein-protein interactions and cellular signaling suggests its involvement in immunological disorders, such as autoimmune diseases and immunodeficiency. 2. **Neurological disorders:** ATXN7's expression in neurons and its role in regulating microtubule organization suggest its involvement in neurological disorders, such as neurodegenerative diseases. 3. **Cancer:** ATXN7's deubiquitinating activity and its interaction with transcription factors suggest its potential role in cancer development and progression. In conclusion, ATXN7 is a multifunctional protein that plays a crucial role in maintaining cellular homeostasis and regulating various cellular processes. Its involvement in multiple pathways and its expression in immune cells make it an attractive candidate for studying immunological disorders. Further research is necessary to fully elucidate the immunological significance of ATXN7 and its potential applications in disease research and therapy.

Genular Protein ID: 4071940603

Symbol: ATX7_HUMAN

Name: N/A

UniProtKB Accession Codes:

O15265 B4E207 E9PHP9 O75328 O75329 Q9Y6P8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 3 DNASU 1 DisGeNET 1 EMBL 8 EMDB 3 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 16 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9288099

Title: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

PubMed ID: 9288099

DOI: 10.1038/ng0997-65

PubMed ID: 9425224

Title: Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

PubMed ID: 9425224

DOI: 10.1093/hmg/7.2.177

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 12533095

Title: A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.

PubMed ID: 12533095

DOI: 10.1001/archneur.60.1.97

PubMed ID: 10441328

Title: Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.

PubMed ID: 10441328

DOI: 10.1093/hmg/8.9.1657

PubMed ID: 11371513

Title: Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.

PubMed ID: 11371513

DOI: 10.1093/hmg/10.11.1201

PubMed ID: 11734547

Title: Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex.

PubMed ID: 11734547

DOI: 10.1093/hmg/10.24.2821

PubMed ID: 15115762

Title: Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.

PubMed ID: 15115762

DOI: 10.1093/hmg/ddh139

PubMed ID: 15932940

Title: Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.

PubMed ID: 15932940

DOI: 10.1073/pnas.0503505102

PubMed ID: 16314424

Title: Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal.

PubMed ID: 16314424

DOI: 10.1074/jbc.m506751200

PubMed ID: 17646170

Title: Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation.

PubMed ID: 17646170

DOI: 10.1074/jbc.m705265200

PubMed ID: 18206972

Title: A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing.

PubMed ID: 18206972

DOI: 10.1016/j.molcel.2007.12.011

PubMed ID: 19843541

Title: SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.

PubMed ID: 19843541

DOI: 10.1093/hmg/ddp478

PubMed ID: 22100762

Title: Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.

PubMed ID: 22100762

DOI: 10.1093/hmg/ddr539

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

Sequence Information:

  • Length: 892
  • Mass: 95451
  • Checksum: 9AEA787D77103C5F
  • Sequence:
    • MSERAADDVR GEPRRAAAAA GGAAAAAARQ QQQQQQQQQP PPPQPQRQQH PPPPPRRTRP 
EDGGPGAAST SAAAMATVGE RRPLPSPEVM LGQSWNLWVE ASKLPGKDGT ELDESFKEFG 
KNREVMGLCR EDMPIFGFCP AHDDFYLVVC NDCNQVVKPQ AFQSHYERRH SSSSKPPLAV 
PPTSVFSFFP SLSKSKGGSA SGSNRSSSGG VLSASSSSSK LLKSPKEKLQ LRGNTRPMHP 
IQQSRVPHGR IMTPSVKVEK IHPKMDGTLL KSAVGPTCPA TVSSLVKPGL NCPSIPKPTL 
PSPGQILNGK GLPAPPTLEK KPEDNSNNRK FLNKRLSERE FDPDIHCGVI DLDTKKPCTR 
SLTCKTHSLT QRRAVQGRRK RFDVLLAEHK NKTREKELIR HPDSQQPPQP LRDPHPAPPR 
TSQEPHQNPH GVIPSESKPF VASKPKPHTP SLPRPPGCPA QQGGSAPIDP PPVHESPHPP 
LPATEPASRL SSEEGEGDDK EESVEKLDCH YSGHHPQPAS FCTFGSRQIG RGYYVFDSRW 
NRLRCALNLM VEKHLNAQLW KKIPPVPSTT SPISTRIPHR TNSVPTSQCG VSYLAAATVS 
TSPVLLSSTC ISPNSKSVPA HGTTLNAQPA ASGAMDPVCS MQSRQVSSSS SSPSTPSGLS 
SVPSSPMSRK PQKLKSSKSL RPKESSGNST NCQNASSSTS GGSGKKRKNS SPLLVHSSSS 
SSSSSSSSHS MESFRKNCVA HSGPPYPSTV TSSHSIGLNC VTNKANAVNV RHDQSGRGPP 
TGSPAESIKR MSVMVNSSDS TLSLGPFIHQ SNELPVNSHG SFSHSHTPLD KLIGKKRKCS 
PSSSSINNSS SKPTKVAKVP AVNNVHMKHT GTIPGAQGLM NSSLLHQPKA RP

Genular Protein ID: 830248135

Symbol: Q9UPD8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9UPD8 A0A0A6YYU1 A0A0K0K1H5 F6U365

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 HOGENOM 1 KEGG 1 NCBI Taxonomy 1 PeptideAtlas 1 PharmGKB 1 RefSeq 1 SAM 1 UCSC 1

Citations:

PubMed ID: 9425224

Title: Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

PubMed ID: 9425224

DOI: 10.1093/hmg/7.2.177

Sequence Information:

  • Length: 26
  • Mass: 2499
  • Checksum: EC031EE203172746
  • Sequence:
    • MSERAADDVR GEPRRAAAAA GGAAAA

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.