PQBP1 (polyglutamine binding protein 1)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
MRX2,MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS
FUSION GENES

Other Information

Locus ID:

NCBI: 10084
MIM: 300463
HGNC: 9330
Ensembl: ENSG00000102103

Variants:

dbSNP: 10084
ClinVar: 10084
TCGA: ENSG00000102103
COSMIC: PQBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102103ENST00000218224O60828
ENSG00000102103ENST00000218224A0A0S2Z4V5
ENSG00000102103ENST00000247140O60828
ENSG00000102103ENST00000376563O60828
ENSG00000102103ENST00000376563A0A0S2Z4V5
ENSG00000102103ENST00000376566O60828
ENSG00000102103ENST00000396763O60828
ENSG00000102103ENST00000396763A0A0S2Z4V5
ENSG00000102103ENST00000447146O60828
ENSG00000102103ENST00000447146A0A0S2Z4V5
ENSG00000102103ENST00000456306H7C053
ENSG00000102103ENST00000651767O60828
ENSG00000102103ENST00000651767A0A0S2Z4V5

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, Prp19/CDC5L complexKEGGhsa_M00353
Spliceosome, Prp19/CDC5L complexKEGGM00353
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
383426022024Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.1
383426022024Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.1
368156992023The role of PQBP1 in neural development and function.0
368156992023The role of PQBP1 in neural development and function.0
356829062022PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.2
356829062022PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.2
336622722021PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation.8
336681212021Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.1
337343952021Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'.1
347826232021Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation.63
336622722021PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation.8
336681212021Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.1
337343952021Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'.1
347826232021Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation.63
318409152020Renpenning syndrome in an Indian patient.1

Citation

Dessen P

PQBP1 (polyglutamine binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72165/meetings/submit-meetings/