Homo sapiens Gene: ATXN3L
Summary
InnateDB Gene IDBG-44591.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATXN3L
Gene Name ataxin 3-like
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000123594
Encoded Proteins
ataxin 3-like
ataxin 3-like
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:13318236-13319952
Strand Reverse strand
Band p22.2
Transcripts
ENST00000380622 ENSP00000369996
ENST00000622204 ENSP00000479386
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004843 ubiquitin-specific protease activity
GO:0008242 omega peptidase activity
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0016579 protein deubiquitination
Cellular Component
GO:0005634 nucleus
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.382641
RefSeq NM_001135995
HUGO
OMIM
CCDS CCDS48080
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas