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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

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