ATXN3L (ataxin 3 like)

2016-08-01  

Identity

HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
MJDL

Other Information

Locus ID:

NCBI: 92552
MIM: 300920
HGNC: 24173
Ensembl: ENSG00000123594

Variants:

dbSNP: 92552
ClinVar: 92552
TCGA: ENSG00000123594
COSMIC: ATXN3L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123594ENST00000380622Q9H3M9
ENSG00000123594ENST00000622204A0A087WVE5

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Josephin domain DUBsREACTOMER-HSA-5689877

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
260795372015Ataxin-3 like (ATXN3L), a member of the Josephin family of deubiquitinating enzymes, promotes breast cancer proliferation by deubiquitinating Krüppel-like factor 5 (KLF5).10

Citation

Dessen P

ATXN3L (ataxin 3 like)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55837/atxn3l