ENSG00000123594


Homo sapiens

Features
Gene ID: ENSG00000123594
  
Biological name :ATXN3L
  
Synonyms : ataxin 3 like / ATXN3L / Q9H3M9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p22.2
Gene start: 13318236
Gene end: 13320399
  
Corresponding Affymetrix probe sets: 216539_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369996
Ensembl peptide - ENSP00000479386
NCBI entrez gene - 92552     See in Manteia.
OMIM - 300920
RefSeq - NM_001135995
RefSeq Peptide - NP_001129467
swissprot - A0A087WVE5
swissprot - Q9H3M9
Ensembl - ENSG00000123594
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atxn3ENSDARG00000099274Danio rerio
 ATXN3ENSGALG00000010766Gallus gallus
 Atxn3ENSMUSG00000021189Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ATXN3 / P54252 / ataxin 3ENSG0000006642769


Protein motifs (from Interpro)
Interpro ID Name
 IPR003903  Ubiquitin interacting motif
 IPR006155  Josephin domain
 IPR009068  S15/NS1, RNA-binding
 IPR033865  Machado-Joseph disease protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0016579 protein deubiquitination IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity TAS


Pathways (from Reactome)
Pathway description
Josephin domain DUBs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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