Property Summary

NCBI Gene PubMed Count 43
PubMed Score 52.15
PubTator Score 64.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Multiple myeloma 1.238 0.005
psoriasis -1.500 0.000
osteosarcoma -2.397 0.000
adult high grade glioma -1.300 0.008
non primary Sjogren syndrome sicca 1.400 0.023
ovarian cancer 1.300 0.001

Synonym

Accession O60828 Q4VY25 Q4VY26 Q4VY27 Q4VY29 Q4VY30 Q4VY34 Q4VY35 Q4VY36 Q4VY37 Q4VY38 Q9GZP2 Q9GZU4 Q9GZZ4 PQBP-1
Symbols SHS
MRX2
MRX55
MRXS3
MRXS8
NPW38
RENS1

Gene

PDB

4BWQ   4BWS   4CDO  

Gene RIF (18)

PMID Text
26046437 Study found that PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with cGAS to initiate an IRF3-dependent innate response.
24781215 Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
22901698 The results of this study addressed that the relationship between gene dose and phenotype relationship of dPQBP1 and investigated the mechanism responsible for the lifespan shortening'
21933836 These data demonstrate a role for PQBP1 in the modulation of stress granules.
21315190 Data show that the PQBP1 mutation was found in 3 brothers with a phenotype comprising MR, short stature, lean body and microcephaly.
21267006 Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability.
21204222 Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.
20886605 mutations in PQBP1 caused variable loss of cell adhesion from impaired vesicle trafficking disrupts the neuroepithelial lining or neuronal migration and underlies periventricular heterotopia formation
20410308 Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing
20307692 frameshift mutations in the PQBP-1 gene lead to expression of mutants lacking the ability to interact with U5-15kD
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AA Sequence

MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADT      1 - 70
DLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDR     71 - 140
DRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYS    141 - 210
DAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD                   211 - 265
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Text Mined References (52)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26046437 2015 PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.
25416956 2014 A proteome-scale map of the human interactome network.
24781215 2014 Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23512658 2013 PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22901698 2013 A restricted level of PQBP1 is needed for the best longevity of Drosophila.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21933836 2011 The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.
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