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Aliases for ATXN3L Gene

Aliases for ATXN3L Gene

  • Ataxin 3 Like 2 3 5
  • Machado-Joseph Disease Protein 1-Like 3 4
  • MJDL 3 4
  • Putative Ataxin-3-Like Protein 3
  • Ataxin-3-Like Protein 3
  • Ataxin 3-Like 2
  • EC 4
  • ATX3L 4

External Ids for ATXN3L Gene

Previous GeneCards Identifiers for ATXN3L Gene

  • GC0XM013096
  • GC0XM013246
  • GC0XM011098

Summaries for ATXN3L Gene

Entrez Gene Summary for ATXN3L Gene

  • 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]

GeneCards Summary for ATXN3L Gene

ATXN3L (Ataxin 3 Like) is a Protein Coding gene. Diseases associated with ATXN3L include Machado-Joseph Disease. Among its related pathways are Protein processing in endoplasmic reticulum and Josephin domain DUBs. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and obsolete ubiquitin thiolesterase activity. An important paralog of this gene is ATXN3.

UniProtKB/Swiss-Prot for ATXN3L Gene

  • Deubiquitinating enzyme that cleaves both Lys-48-linked and Lys-63-linked poly-ubiquitin chains (in vitro).

Additional gene information for ATXN3L Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN3L Gene

Genomics for ATXN3L Gene

GeneHancer (GH) Regulatory Elements for ATXN3L Gene

Promoters and enhancers for ATXN3L Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ013667 Enhancer 1.5 FANTOM5 Ensembl ENCODE 14.6 -348.8 -348762 2.9 HDGF PKNOX1 SMAD1 ARNT FEZF1 IRF4 YY1 ZNF213 ZNF143 ZNF207 TCEANC GS1-600G8.3 ENSG00000235592 ATXN3L RAB9A
GH0XJ013661 Enhancer 0.9 Ensembl ENCODE 14.6 -343.5 -343459 4.2 PKNOX1 CEBPG RFX5 GTF3C2 GATA3 ZNF316 NFE2L2 CBLL2 CEBPB MAFG TCEANC ENSG00000235592 GS1-600G8.3 ATXN3L OFD1 RAB9A
GH0XJ013687 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 3.4 -371.2 -371198 7.2 PKNOX1 ARNT SIN3A DMAP1 ZNF2 YY1 POLR2B SP3 SMARCB1 KAT8 OFD1 RAB9A TCEANC TRAPPC2 ATXN3L
GH0XJ012945 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.4 +368.0 368044 13.1 HDGF PKNOX1 FOXA2 SMAD1 ARNT FEZF1 IRF4 YY1 POLR2B ZNF766 TLR8 OFD1 TMSB4X TLR8-AS1 TLR7 ATXN3L GC0XP012957
GH0XJ012841 Enhancer 0.2 FANTOM5 4.8 +478.6 478601 0 ATXN3L MRPL35P4 PSMA6P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATXN3L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATXN3L gene promoter:
  • POU3F1
  • Pax-2a
  • Pax-2
  • c-Jun
  • c-Fos
  • AP-1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B

Genomic Locations for ATXN3L Gene

Genomic Locations for ATXN3L Gene
2,164 bases
Minus strand
1,753 bases
Minus strand

Genomic View for ATXN3L Gene

Genes around ATXN3L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN3L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN3L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN3L Gene

Proteins for ATXN3L Gene

  • Protein details for ATXN3L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ataxin-3-like protein
    Protein Accession:
    Secondary Accessions:
    • B2RNY8

    Protein attributes for ATXN3L Gene

    355 amino acids
    Molecular mass:
    40747 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ATXN3L Gene

neXtProt entry for ATXN3L Gene

Post-translational modifications for ATXN3L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATXN3L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATXN3L Gene

Domains & Families for ATXN3L Gene

Gene Families for ATXN3L Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ATXN3L Gene

Suggested Antigen Peptide Sequences for ATXN3L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATXN3L: view

No data available for UniProtKB/Swiss-Prot for ATXN3L Gene

Function for ATXN3L Gene

Molecular function for ATXN3L Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that cleaves both Lys-48-linked and Lys-63-linked poly-ubiquitin chains (in vitro).
UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).

Enzyme Numbers (IUBMB) for ATXN3L Gene

Phenotypes From GWAS Catalog for ATXN3L Gene

Gene Ontology (GO) - Molecular Function for ATXN3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 21118805
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity TAS --
genes like me logo Genes that share ontologies with ATXN3L: view

Phenotypes for ATXN3L Gene

genes like me logo Genes that share phenotypes with ATXN3L: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATXN3L Gene

Localization for ATXN3L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN3L Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATXN3L gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Gene Ontology (GO) - Cellular Components for ATXN3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ATXN3L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATXN3L Gene

Pathways & Interactions for ATXN3L Gene

genes like me logo Genes that share pathways with ATXN3L: view

Pathways by source for ATXN3L Gene

Gene Ontology (GO) - Biological Process for ATXN3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis IEA --
GO:0016579 protein deubiquitination IEA,TAS --
genes like me logo Genes that share ontologies with ATXN3L: view

No data available for SIGNOR curated interactions for ATXN3L Gene

Drugs & Compounds for ATXN3L Gene

No Compound Related Data Available

Transcripts for ATXN3L Gene

mRNA/cDNA for ATXN3L Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATXN3L Gene

Ataxin 3-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN3L Gene

No ASD Table

Relevant External Links for ATXN3L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATXN3L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATXN3L Gene

mRNA differential expression in normal tissues according to GTEx for ATXN3L Gene

This gene is overexpressed in Testis (x50.7).

Protein differential expression in normal tissues from HIPED for ATXN3L Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATXN3L Gene

Protein tissue co-expression partners for ATXN3L Gene

NURSA nuclear receptor signaling pathways regulating expression of ATXN3L Gene:


SOURCE GeneReport for Unigene cluster for ATXN3L Gene:

genes like me logo Genes that share expression patterns with ATXN3L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN3L Gene

Orthologs for ATXN3L Gene

This gene was present in the common ancestor of animals.

Orthologs for ATXN3L Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATXN3L 34 33
  • 92.39 (n)
(Canis familiaris)
Mammalia -- 34
  • 69 (a)
-- 34
  • 66 (a)
-- 34
  • 62 (a)
(Mus musculus)
Mammalia Atxn3 34
  • 66 (a)
(Bos Taurus)
Mammalia ATXN3 34
  • 65 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
(Gallus gallus)
Aves ATXN3 34
  • 60 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
(Danio rerio)
Actinopterygii ATXN3 34
  • 48 (a)
(Caenorhabditis elegans)
Secernentea atx-3 34
  • 31 (a)
Species where no ortholog for ATXN3L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATXN3L Gene

Gene Tree for ATXN3L (if available)
Gene Tree for ATXN3L (if available)
Evolutionary constrained regions (ECRs) for ATXN3L: view image

Paralogs for ATXN3L Gene

Paralogs for ATXN3L Gene

(1) SIMAP similar genes for ATXN3L Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ATXN3L: view

Variants for ATXN3L Gene

Sequence variations from dbSNP and Humsavar for ATXN3L Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000929284 -- 13,319,809(-) T/C coding_sequence_variant, synonymous_variant
rs1000960651 -- 13,320,199(-) G/A 5_prime_UTR_variant
rs1001541188 -- 13,321,364(-) A/C upstream_transcript_variant
rs1001614694 -- 13,321,794(-) T/C upstream_transcript_variant
rs1002084312 -- 13,320,644(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN3L Gene

Variant ID Type Subtype PubMed ID
esv3576773 CNV gain 25503493

Variation tolerance for ATXN3L Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATXN3L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN3L Gene

Disorders for ATXN3L Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATXN3L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
machado-joseph disease
  • mjd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATXN3L

genes like me logo Genes that share disorders with ATXN3L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATXN3L Gene

Publications for ATXN3L Gene

  1. Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PMID: 21118805) Weeks SD … Loll PJ (The Journal of biological chemistry 2011) 3 4 58
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  3. The genomic structure and expression of MJD, the Machado-Joseph disease gene. (PMID: 11450850) Ichikawa Y … Kanazawa I (Journal of human genetics 2001) 3 4 58
  4. Ataxin-3 like (ATXN3L), a member of the Josephin family of deubiquitinating enzymes, promotes breast cancer proliferation by deubiquitinating Krüppel-like factor 5 (KLF5). (PMID: 26079537) Ge F … Chen C (Oncotarget 2015) 3 58
  5. A microarray of ubiquitylated proteins for profiling deubiquitylase activity reveals the critical roles of both chain and substrate. (PMID: 22626734) Loch CM … Strickler JE (Biochimica et biophysica acta 2012) 3 58

Products for ATXN3L Gene

Sources for ATXN3L Gene

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