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    ATXN3L ataxin 3-like [ Homo sapiens ]

    Gene ID: 92552, updated on 11-May-2012
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    Summary

    Official Symbol
    ATXN3Lprovided by HGNC
    Official Full Name
    ataxin 3-likeprovided by HGNC
    Primary source
    HGNC:24173
    See related
    Ensembl:ENSG00000123594; Vega:OTTHUMG00000021146
    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; FLJ59638; MGC168806; MGC168807
    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]
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    Genomic context

    Location :
    Xp22.2
    Sequence :
    Chromosome: X; NC_000023.10 (13336766..13338518, complement)
    See ATXN3L in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506583 Neighboring gene thymosin beta 4, X-linked Neighboring gene family with sequence similarity 9, member C Neighboring gene uncharacterized LOC100506610 Neighboring gene glutathione peroxidase pseudogene 1 Neighboring gene ribosomal protein L30 pseudogene 15 Neighboring gene EGF-like-domain, multiple 6

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. 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.
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651.
    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.
    5. The genomic structure and expression of MJD, the Machado-Joseph disease gene. Ichikawa Y, et al. J Hum Genet, 2001. PMID 11450850.

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:124954 BioGRID:113164 UBC    BioGRID  PubMed Co-crystal Structure 
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    General gene information

    Markers

    Genotypes

    Pathways from BioSystems

    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    omega peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    ubiquitin-specific protease activity IDA
    Inferred from Direct Assay
    more info
    		  
    Process Evidence Code Pubs
    protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    		  
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    putative ataxin-3-like protein
    Names
    putative ataxin-3-like protein
    machado-Joseph disease protein 1-like
    NP_001129467.1
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    NCBI Reference Sequences (RefSeq)

    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
      5001..6753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135995.1 → NP_001129467.1  putative ataxin-3-like protein

      Status: REVIEWED

      Source sequence(s)
      AB050195, AK302365, BC137186, DB540973
      Consensus CDS
      CCDS48080.1
      UniProtKB/TrEMBL
      B4DYC7
      UniProtKB/Swiss-Prot
      Q9H3M9
      Related
      ENSP00000369996, OTTHUMP00000022931, ENST00000380622, OTTHUMT00000055785
      Conserved Domains (1) summary
      pfam02099
      Location:8 – 168
      Blast Score: 601
      Josephin; Josephin

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      13336766..13338518, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      11098040..11099792, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004674.1 (51976..53523) None
    genomic CH471074.1 EAW98819.1
    mRNA AB050195.1 BAB18799.1
    mRNA AK302365.1 BAG63689.1
    mRNA BC137186.1 AAI37187.1
    mRNA BC137187.1 AAI37188.1
    mRNA DB059638.1 None
    mRNA DB460385.1 None
    mRNA DB525796.1 None
    mRNA DB540973.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3M9.2 GenPept UniProtKB/Swiss-Prot:Q9H3M9
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    Additional Links

    Additional Links

    Gene LinkOut

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

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