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Aliases for ATXN3L Gene

Aliases for ATXN3L Gene

  • Ataxin 3-Like 2 3
  • Machado-Joseph Disease Protein 1-Like 3 4
  • MJDL 3 4
  • Putative Ataxin-3-Like Protein 3
  • EC 3.4.19.12 4
  • EC 3.4.22 64
  • ATX3L 4

External Ids for ATXN3L Gene

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-specific protease activity and omega peptidase 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

Genomic Location for ATXN3L Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATXN3L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN3L Gene

Regulatory Elements 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

No Post-translational modifications

Other Protein References for ATXN3L Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for ATXN3L Gene

Protein Domains for ATXN3L Gene

UniProtKB/Swiss-Prot:

ATX3L_HUMAN
Domain:
  • Contains 1 Josephin domain.:
    • Q9H3M9
  • Contains 2 UIM (ubiquitin-interacting motif) domains.:
    • Q9H3M9
genes like me logo Genes that share domains with ATXN3L: view

No data available for Gene Families for ATXN3L Gene

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

Gene Ontology (GO) - Molecular Function for ATXN3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001012 RNA polymerase II regulatory region DNA binding IEA --
GO:0004221 ubiquitin thiolesterase activity --
GO:0004407 histone deacetylase activity IEA --
GO:0004843 ubiquitin-specific protease activity IDA 21118805
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with ATXN3L: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 3
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for ATXN3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005759 mitochondrial matrix IEA --
GO:0031966 mitochondrial membrane IEA --
GO:0042405 nuclear inclusion body IEA --
genes like me logo Genes that share ontologies with ATXN3L: view

Pathways 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis --
GO:0006511 ubiquitin-dependent protein catabolic process --
GO:0006515 misfolded or incompletely synthesized protein catabolic process IEA --
genes like me logo Genes that share ontologies with ATXN3L: view

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 (50.7).

Integrated Proteomics: protein expression 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 expressions with ATXN3L: view

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
  • 92.39 (n)
  • 87.61 (a)
ATXN3L 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATXN3 37
  • 65 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 62 (a)
ManyToMany
-- 37
  • 66 (a)
ManyToMany
-- 37
  • 69 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Atxn3 37
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATXN3 37
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 56 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ATXN3 37
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atx-3 37
  • 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

Selected 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 MAF
rs4830843 -- 13,321,043(+) CCTTA(A/G)GATTC upstream-variant-2KB
rs6632679 -- 13,321,814(+) TTTAC(A/G)TAAGT upstream-variant-2KB
rs12558229 -- 13,320,946(+) GGAAG(G/T)ACATG upstream-variant-2KB
rs12842741 -- 13,320,682(+) AACCA(C/T)TAGAT upstream-variant-2KB
rs12844569 -- 13,321,616(+) AAGTG(A/G)CAAAA upstream-variant-2KB

Relevant External Links for ATXN3L Gene

HapMap Linkage Disequilibrium report
ATXN3L
Locus Specific Mutation Databases (LSDB)
ATXN3L

No data available for Structural Variations from Database of Genomic Variants (DGV) for ATXN3L Gene

Disorders for ATXN3L Gene

(1) MalaCards Diseases for ATXN3L Gene

Search for ATXN3L Gene in MalaCards »

(1) University of Copenhagen DISEASES for ATXN3L Gene

Relevant External Links for ATXN3L

Genetic Association Database (GAD)
ATXN3L
genes like me logo Genes that share disorders with ATXN3L: view

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

Publications for ATXN3L Gene

  1. The genomic structure and expression of MJD, the Machado-Joseph disease gene. (PMID: 11450850) Ichikawa Y. … Kanazawa I. (J. Hum. Genet. 2001) 3 4
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  3. 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
  4. 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
  5. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PMID: 17903294) Yang Q. … O'Donnell C.J. (BMC Med. Genet. 2007) 49

Products for ATXN3L Gene

  • antibodies-online proteins for ATXN3L
  • antibodies-online antibodies for ATXN3L
  • antibodies-online kits for ATXN3L

Sources for ATXN3L Gene

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