ATXN3L Gene
protein-coding GIFtS: 49
GCID: GC0XM013336
|
|
ataxin 3-like
| |
Aliases
for ATXN3L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ataxin 3-Like1 2 | | ATX3L3 | | MJDL1 2 3 | | EC 3.4.19.123 | | Machado-Joseph Disease Protein 1-Like2 3 | | EC 3.4.228 | | Putative Ataxin-3-Like Protein2 | | |
Export aliases for ATXN3L gene to outside databasesPrevious GC identifers: GC0XM013096 GC0XM013246 GC0XM011098 |
Summaries
for ATXN3L gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ATXN3L:
This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodesataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encodingataxin 3 are associated with Machado-Joseph disease. (provided by RefSeq, Sep 2011)
UniProtKB/Swiss-Prot: ATX3L_HUMAN, Q9H3M9Function: Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (invitro)
|
Genomic Views
for ATXN3L gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_167197.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATXN3L gene promoter:
POU2F2 (Oct-2.1) c-Fos AP-1 POU3F1 Pax-2 Pax-2a POU2F2 POU2F1a c-Jun POU2F2B
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATXN3L
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN3L |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp22.2 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22ATXN3L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM013336: view genomic region
(about GC identifiers)
Start:
|
13,336,766 bp from pter |
End:
|
13,338,518 bp from pter |
Size:
|
1,753 bases |
Orientation:
|
minus strand |
|
Proteins
for ATXN3L gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ATX3L_HUMAN, Q9H3M9 (See
protein sequence)Recommended Name: Putative ataxin-3-like protein Size: 355 amino acids; 40747 Da
Subcellular location: Nucleus (By similarity)
Caution: Could be the product of a pseudogene. Suggested by the absence of intron
1 PDB 3D structure from  and Proteopedia  for ATXN3L:3O65 (3D)
Secondary accessions: B2RNY8Explore the universe of human proteins at neXtProt for ATXN3L: NX_Q9H3M9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H3M9
4/5 DME Specific Peptides for ATXN3L (Q9H3M9) (see all 5)
ATXN3L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001129467.1
ENSEMBL proteins: ENSP00000369996
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
ATXN3L for ontologies About GeneDecksing
ATXN3L Antibody Products:
Assay Products for ATXN3L: |
Protein
Domains /
Families
for ATXN3L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATXN3L for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9H3M9ProtoNet protein and cluster: Q9H3M9 2 Blocks protein families: IPB003903 Ubiquitin interacting motif IPB006155 Josephin signature
UniProtKB/Swiss-Prot: ATX3L_HUMAN, Q9H3M9Similarity: Contains 1 Josephin domainSimilarity: Contains 2 UIM (ubiquitin-interacting motif) repeats |
Function
for ATXN3L gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ATX3L_HUMAN, Q9H3M9Function: Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (invitro)Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by theC-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)Enzyme Numbers (IUBMB): EC 3.4.222 EC 3.4.19.121
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN3L
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN3L |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004843 | ubiquitin-specific protease activity |
IDA | -- | | GO:0008242 | omega peptidase activity |
IEA | -- |
ATXN3L for ontologies About GeneDecksing
|
Pathways & Interactions
for ATXN3L gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Protein processing in endoplasmic reticulum | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for ATXN3L):
ATXN3L for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATXN3L
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5 Interacting proteins for ATXN3L (Q9H3M93 ENSP000003699964) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0006508 | proteolysis |
IEA | -- | | GO:0016579 | protein deubiquitination |
IDA | -- |
ATXN3L for ontologies About GeneDecksing
|
Drugs & Compounds
for ATXN3L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ATXN3L
Search CenterWatch for drugs/clinical trials and news about ATXN3L / ATX3L
|
Transcripts
for ATXN3L gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATXN3L gene: NM_001135995.1 Unigene Cluster for ATXN3L: Ataxin 3-like Hs.382641 [show with all ESTs]Unigene Representative Sequence: NM_0011359951 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000380622(uc010ned.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN3L
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN3L
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ATXN3L (NM_001135995) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATXN3L | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN3L |
Additional cDNA sequence: AB050195.1 AK302365.1 BC137186.1 BC137187.1 2 DOTS entries: DT.40225272 DT.91811394 3 AceView cDNA sequences: AA411848 AB050195 AA402429
GeneLoc Exon Structure
|
Expression
for ATXN3L gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATXN3L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTAACTCCT
About this image
See ATXN3L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATXN3L
SOURCE GeneReport for Unigene cluster: Hs.382641
SABiosciences Custom PCR Arrays for ATXN3L
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN3L
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ATXN3L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN3L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN3L | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN3L |
Orthologs
for ATXN3L gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ATXN3L gene from 7/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ATX3_CHICK6 |
Ataxin-3 |
60(a) |
1 → many |
5(47024941-47113056) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
52(a) |
1 → many |
1(11657238-11669503) |
zebrafish
(Danio rerio) |
Actinopterygii |
CABZ01074984.16 |
-- |
47(a) |
1 → many |
17(53814584-53817190) |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
39(a) |
1 → many |
GroupUn.507(27146-28776) |
worm
(Caenorhabditis elegans) |
Secernentea |
atx-36 |
Ataxin-3 homolog |
30(a) |
1 → many |
V(15575480-15577024) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT3G541306 |
Ataxin-3 like protein |
33(a) |
1 → many |
3(20042705-20044526) |
rice
(Oryza sativa) |
Liliopsida |
-- |
josephin, putative, expressed |
28(a) |
1 → many |
1(36655297-36659725) |
ENSEMBL Gene Tree for ATXN3L (if available)
TreeFam Gene Tree for ATXN3L (if available) |
Paralogs
for ATXN3L gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATXN3L gene
- ATXN32
1 SIMAP similar gene for ATXN3L using alignment to 1 protein entry: ATX3L_HUMAN:ATXN3
ATXN3L for paralogs About GeneDecksing
|
Genomic Variants
for ATXN3L gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATXN3L (13336766 - 13338518 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATXN3L: --
Human Gene Mutation Database (HGMD): ATXN3L
Locus Specific Mutation Databases (LSDB): ATXN3L
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN3L |
|
Disorders
/ Diseases
for ATXN3L gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATXN3L for disorders About GeneDecksing
4  diseases for ATXN3L: About MalaCardsmachado-joseph disease spinocerebellar ataxia ataxia malaria
1 disease from the University of Copenhagen DISEASES database for ATXN3L:Machado-Joseph disease Export disorders for ATXN3L gene to outside databases
|
Publications
for ATXN3L gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ATXN3L gene integrated from 9 sources:
(articles sorted by number of sources associating them with ATXN3L) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PubMed id 21118805)1, 2 Weeks S.D.... Loll P.J. (2011)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- The genomic structure and expression of MJD, the Machado-Joseph disease gene. (PubMed id 11450850)1, 2 Ichikawa Y.... Kanazawa I. (2001)
- A microarray of ubiquitylated proteins for profiling d eubiquitylase activity reveals the critical roles of both chain and substrate. (PubMed id 22626734)1 Loch C.M. and Strickler J.E. (2012)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for ATXN3L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATXN3L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATXN3L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATXN3L gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ATXN3L | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ATXN3L gene:
Search GeneIP for patents involving ATXN3L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATXN3L gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATXN3L | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN3L | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN3L | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN3L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN3L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN3L |
| |
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| |  |  |  |  | | | | |
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 | | | ATXN3L Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN3L |
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