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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] See more...
Aliases for ATXN3L Gene
Aliases for ATXN3L Gene
External Ids for ATXN3L Gene
- HGNC: 24173
- Entrez Gene: 92552
- Ensembl: ENSG00000123594
- OMIM: 300920
- UniProtKB: Q9H3M9
Previous GeneCards Identifiers for ATXN3L Gene
- GC0XM013096
- GC0XM013246
- GC0XM011098
Summaries 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 and Simpson-Golabi-Behmel Syndrome, Type 2. Among its related pathways are Spinocerebellar ataxia and Metabolism of proteins. 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 Summary 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
- HGNC(24173)
- Entrez Gene(92552)
- Ensembl(ENSG00000123594)
- OMIM(300920)
- UniProtKB(Q9H3M9)
- Open Targets Platform(ENSG00000123594)
- Search for ATXN3L at DataMed
- Search for ATXN3L at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN3L Gene
Genomics for ATXN3L Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATXN3L Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN3L
- Top Transcription factor binding sites by QIAGEN in the ATXN3L gene promoter:
-
- AP-1
- c-Fos
- c-Jun
- Pax-2
- Pax-2a
- POU2F1a
- POU2F2
- POU2F2 (Oct-2.1)
- POU2F2B
- POU3F1
Genomic Locations for ATXN3L Gene
Genomic Locations for ATXN3L Gene
- chrX:13,318,236-13,320,399
- (GRCh38/hg38)
- Size:
- 2,164 bases
- Orientation:
- Minus strand
- chrX:13,336,766-13,338,518
- (GRCh37/hg19)
- Size:
- 1,753 bases
- Orientation:
- Minus strand
Genomic View for ATXN3L Gene
Genes around ATXN3L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
ATXN3L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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:
- Ataxin-3-like protein
- Protein Accession:
- Q9H3M9
- B2RNY8
Protein attributes for ATXN3L Gene
- Size:
- 355 amino acids
- Molecular mass:
- 40747 Da
- Quaternary structure:
- No Data Available
Protein Expression for ATXN3L Gene
Selected DME Specific Peptides for ATXN3L Gene
- Q9H3M9:
-
- LCAQHCLNNLLQGEYFSPVEL
- FVVKGDLPDCEADQLLQ
- IFHEKQEG
- GPELISDT
- WFNLNSLL
Post-translational modifications for ATXN3L Gene
Other Protein References for ATXN3L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-ATXN3L polyclonal antibody
- Novus Biologicals Antibodies for ATXN3L
- Invitrogen Antibodies for ATXN3L (AFLGC-ATXN3L)
Protein Products
-
OriGene Purified Proteins for ATXN3L
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- Novus Biologicals proteins for ATXN3L
Domains & Families for ATXN3L Gene
Gene Families for ATXN3L Gene
- HGNC:
- 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:
-
- Machado-Joseph disease protein 1-like (ATX3L_HUMAN)
No data available for Graphical View of Domain Structure and 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:
- Reaction=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).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:21118805};.
Enzyme Numbers (IUBMB) for ATXN3L Gene
Phenotypes From GWAS Catalog for ATXN3L Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004843 | thiol-dependent ubiquitin-specific protease activity | IEA,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 | IEA | -- |
Phenotypes for ATXN3L Gene
- GenomeRNAi human phenotypes for ATXN3L:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATXN3L - Select products 50% OFF >
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-
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-
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miRNA for ATXN3L Gene
- miRTarBase miRNAs that target ATXN3L
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN3L
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Clone Products
- Applied Biological Materials (abm): Clones for ATXN3L - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for ATXN3L
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Cell Line Products
-
Horizon Cell Lines for ATXN3L
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 4 |
| plasma membrane | 1 |
| extracellular | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATXN3L Gene
Pathways & Interactions for ATXN3L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Protein processing in endoplasmic reticulum | ||
| 3 | Spinocerebellar ataxia | ||
| 4 | Deubiquitination |
.74
|
|
| 5 | Josephin domain DUBs | ||
Pathways by source for ATXN3L Gene
4 Reactome pathways for ATXN3L Gene
2 KEGG pathways for ATXN3L Gene
Interacting Proteins for ATXN3L Gene
GPS-Prot Interaction Network for ATXN3L
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0016579 | protein deubiquitination | IEA,TAS | -- |
No data available for SIGNOR curated interactions for ATXN3L Gene
Transcripts for ATXN3L Gene
mRNA/cDNA for ATXN3L Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000380622 2164 nts (view in UCSC)
- ENST00000622204 837 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATXN3L - Select products 50% OFF >
- * ATXN3L CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN3L
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for ATXN3L - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for ATXN3L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN3L
Relevant External Links for ATXN3L Gene
- GeneLoc Exon Structure for
- ATXN3L
Expression for ATXN3L Gene
mRNA differential expression in normal tissues according to GTEx for ATXN3L Gene
This gene is overexpressed in Testis (x50.7).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATXN3L
SOURCE GeneReport for Unigene cluster for ATXN3L Gene:
Hs.382641Primer Products
-
OriGene qPCR primer pairs for ATXN3L
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATXN3L 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| Mouse (Mus musculus) |
Mammalia | Atxn3 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Cow (Bos Taurus) |
Mammalia | ATXN3 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | ATXN3 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Zebrafish (Danio rerio) |
Actinopterygii | ATXN3 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | atx-3 31 |
|
OneToMany |
- Species where no ortholog for ATXN3L was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATXN3L: view image
Paralogs for ATXN3L Gene
Variants for ATXN3L Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN3L Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs16999010 | - | p.Leu266Phe | |||
| rs4830842 | - | p.Gly332Asp |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3576773 | CNV | gain | 25503493 |
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
- ATXN3L
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN3L Gene
Disorders for ATXN3L Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| machado-joseph disease |
|
|
| simpson-golabi-behmel syndrome, type 2 |
|
|
| ring dermoid of cornea |
|
|
| autosomal dominant cerebellar ataxia |
|
|
Search ATXN3L in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ATXN3L
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ATXN3L Gene
Publications for ATXN3L Gene
- 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
- The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
- 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
- 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
- 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
ExternalLinks
Products for ATXN3L Gene
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- Custom Assay Services
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Sources for ATXN3L Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
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- (29) SOURCE
- (30) HomoloGene
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- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (42) BGMUT
- (43) HuGE
- (44) Atlas
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- (46) HORDE
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
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- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
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- (84) COMPARTMENTS
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