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    ATXN3L ataxin 3 like [ Homo sapiens (human) ]

    Gene ID: 92552, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ATXN3Lprovided by HGNC
    Official Full Name
    ataxin 3 likeprovided by HGNC
    Primary source
    HGNC:HGNC:24173
    See related
    Ensembl:ENSG00000123594 MIM:300920; AllianceGenome:HGNC:24173
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MJDL
    Summary
    This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]
    Orthologs
    all
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    Genomic context

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    See ATXN3L in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13318647..13320053, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (12900086..12901492, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13336766..13338172, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29437 Neighboring gene long intergenic non-protein coding RNA 2154 Neighboring gene unknown transcript Neighboring gene long intergenic non-protein coding RNA 1203 Neighboring gene glutathione peroxidase pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The evolution and functional diversification of the deubiquitinating enzyme superfamily. Vlasschaert C, et al. Genome Biol Evol, 2017 Mar. PMID 28177072, Free PMC Article
    2. Ataxin-3 like (ATXN3L), a member of the Josephin family of deubiquitinating enzymes, promotes breast cancer proliferation by deubiquitinating Krüppel-like factor 5 (KLF5). Ge F, et al. Oncotarget, 2015 Aug 28. PMID 26079537, Free PMC Article
    3. The genomic structure and expression of MJD, the Machado-Joseph disease gene. Ichikawa Y, et al. J Hum Genet, 2001. PMID 11450850
    4. Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. Weeks SD, et al. J Biol Chem, 2011 Feb 11. PMID 21118805, Free PMC Article
    5. OTUD6A Is an Aurora Kinase A-Specific Deubiquitinase. Kim HJ, et al. Int J Mol Sci, 2021 Feb 16. PMID 33669244, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ATXN3L has a role in the regulation of KLF5 stability in breast cancer
      Title: Ataxin-3 like (ATXN3L), a member of the Josephin family of deubiquitinating enzymes, promotes breast cancer proliferation by deubiquitinating Krüppel-like factor 5 (KLF5).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ59638, MGC168806, MGC168807

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein deubiquitination TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein quality control for misfolded or incompletely synthesized proteins IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ataxin-3-like protein
    Names
    machado-Joseph disease protein 1-like
    putative ataxin-3-like protein
    NP_001129467.1
    NP_001373965.1

    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.

    Genomic

    1. NG_021356.1 RefSeqGene

      Range
      5347..6753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135995.2 → NP_001129467.1  ataxin-3-like protein isoform 1

      See identical proteins and their annotated locations for NP_001129467.1

      Status: REVIEWED

      Source sequence(s)
      AC004674
      Consensus CDS
      CCDS48080.1
      UniProtKB/Swiss-Prot
      B2RNY8, Q9H3M9
      UniProtKB/TrEMBL
      B4DYC7
      Related
      ENSP00000369996.2, ENST00000380622.5
      Conserved Domains (2) summary
      pfam02099
      Location:9 → 163
      Josephin; Josephin
      pfam16619
      Location:262 → 323
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

    2. NM_001387036.1 → NP_001373965.1  ataxin-3-like protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC004674
      Conserved Domains (2) summary
      pfam02099
      Location:9 → 78
      Josephin
      pfam16619
      Location:173 → 236
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      13318647..13320053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      12900086..12901492 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3M9.2 GenPept UniProtKB/Swiss-Prot:Q9H3M9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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