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atxn3 ataxin 3 [ Danio rerio (zebrafish) ]

Gene ID: 394079, updated on 4-Jan-2025

Summary

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Official Symbol
atxn3provided by ZNC
Official Full Name
ataxin 3provided by ZNC
Primary source
ZFIN:ZDB-GENE-040426-983
See related
Ensembl:ENSDARG00000099274 AllianceGenome:ZFIN:ZDB-GENE-040426-983
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
Mjd; zgc:56323
Summary
Predicted to enable cysteine-type deubiquitinase activity. Acts upstream of or within photoreceptor cell development. Predicted to be active in nucleus. Is expressed in brain; eye; and retina. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's disease. Orthologous to several human genes including ATXN3 (ataxin 3). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs
human mouse all
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Genomic context

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See atxn3 in Genome Data Viewer
Location:
chromosome: 17
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 17 NC_007128.7 (53283999..53290383)
105 previous assembly GRCz10 (GCF_000002035.5) 17 NC_007128.6 (53196868..53203252)

Chromosome 17 - NC_007128.7Genomic Context describing neighboring genes Neighboring gene vasohibin 1 Neighboring gene gamma-aminobutyric acid receptor subunit rho-1 Neighboring gene serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10b Neighboring gene si:ch1073-416d2.4 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box helicase 24

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina. Toulis V, et al. Cell Rep, 2020 Nov 10. PMID 33176149, Free PMC Article
  2. Knockdown screening of chromatin binding and regulatory proteins in zebrafish identified Suz12b as a regulator of tfpia and an antithrombotic drug target. Raman R, et al. Sci Rep, 2021 Jul 27. PMID 34315984, Free PMC Article
  3. Genome-wide loss-of-function analysis of deubiquitylating enzymes for zebrafish development. Tse WK, et al. BMC Genomics, 2009 Dec 30. PMID 20040115, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Clone Names

  • MGC56323

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type deubiquitinase activity IEA
Inferred from Electronic Annotation
more info
  
enables cysteine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within photoreceptor cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein deubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in protein quality control for misfolded or incompletely synthesized proteins IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ataxin-3
NP_001307461.1
XP_021322802.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001320532.1 → NP_001307461.1  ataxin-3

    Status: VALIDATED

    Source sequence(s)
    CK015945, FO704905
    UniProtKB/TrEMBL
    A0A0R4ITP2, A0A8M1P7P2, A0A8M6YTS8
    Related
    ENSDARP00000137828.2, ENSDART00000165368.2
    Conserved Domains (2) summary
    pfam02099
    Location:9 → 163
    Josephin; Josephin
    pfam16619
    Location:272 → 310
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007128.7 Reference GRCz11 Primary Assembly

    Range
    53283999..53290383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021467127.2 → XP_021322802.1  ataxin-3 isoform X1

    UniProtKB/TrEMBL
    A0A8M6YTS8, A0A8M9P030
    Conserved Domains (2) summary
    pfam02099
    Location:11 → 162
    Josephin
    pfam16619
    Location:271 → 309
    SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_201104.1: Suppressed sequence

    Description
    NM_201104.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version

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