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Aliases for ATXN3L Gene

Aliases for ATXN3L Gene

  • Ataxin 3 Like 2 3
  • Ataxin 3-Like 2 3 5
  • Machado-Joseph Disease Protein 1-Like 3 4
  • MJDL 3 4
  • EC 3.4.19.12 4
  • EC 3.4.22 63
  • 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. 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).

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

Genomics for ATXN3L Gene

Regulatory Elements for ATXN3L Gene

Genomic Location for ATXN3L Gene

Chromosome:
X
Start:
13,318,236 bp from pter
End:
13,320,399 bp from pter
Size:
2,164 bases
Orientation:
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:
    Q9H3M9-ATX3L_HUMAN
    Recommended name:
    Putative ataxin-3-like protein
    Protein Accession:
    Q9H3M9
    Secondary Accessions:
    • B2RNY8

    Protein attributes for ATXN3L Gene

    Size:
    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

Proteomics data for ATXN3L Gene at MOPED

Selected DME Specific Peptides 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:

Domains & Families for ATXN3L Gene

Gene Families for ATXN3L Gene

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

Q9H3M9

UniProtKB/Swiss-Prot:

ATX3L_HUMAN :
  • Contains 1 Josephin domain.
Domain:
  • Contains 1 Josephin domain.
  • Contains 2 UIM (ubiquitin-interacting motif) domains.
genes like me logo Genes that share domains with ATXN3L: view

Function for ATXN3L Gene

Molecular function for ATXN3L Gene

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).
UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that cleaves both Lys-48-linked and Lys-63-linked poly-ubiquitin chains (in vitro).

Enzyme Numbers (IUBMB) for ATXN3L Gene

Phenotypes for ATXN3L Gene

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

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for ATXN3L Gene COMPARTMENTS Subcellular localization image for ATXN3L gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components 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

1 KEGG pathway for ATXN3L Gene

Gene Ontology (GO) - Biological Process for ATXN3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016579 protein deubiquitination IDA 21118805
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:

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

No ASD Table

Relevant External Links for ATXN3L Gene

GeneLoc Exon Structure for
ATXN3L
ECgene alternative splicing isoforms for
ATXN3L

Expression for ATXN3L Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for ATXN3L Gene



SOURCE GeneReport for Unigene cluster for ATXN3L Gene Hs.382641

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

Protein tissue co-expression partners for ATXN3L Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia ATXN3L 36
  • 93 (a)
OneToOne
ATXN3L 35
  • 92.39 (n)
  • 87.61 (a)
cow
(Bos Taurus)
Mammalia ATXN3 36
  • 65 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 62 (a)
ManyToMany
-- 36
  • 66 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Atxn3 36
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATXN3 36
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ATXN3 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atx-3 36
  • 31 (a)
OneToMany
Species with no ortholog for ATXN3L:
  • 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

ENSEMBL:
Gene Tree for ATXN3L (if available)
TreeFam:
Gene Tree for ATXN3L (if available)

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 Sequence Context AA Info Type
VAR_029861 -
VAR_029862 -

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)

Relevant External Links for ATXN3L Gene

HapMap Linkage Disequilibrium report
ATXN3L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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
  • azorean disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATXN3L

Genetic Association Database (GAD)
ATXN3L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.D. … Loll P.J. (J. Biol. Chem. 2011) 3 4 67
  2. A microarray of ubiquitylated proteins for profiling deubiquitylase activity reveals the critical roles of both chain and substrate. (PMID: 22626734) Loch C.M. … Strickler J.E. (Biochim. Biophys. Acta 2012) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for ATXN3L Gene

Sources for ATXN3L Gene

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