Property Summary

NCBI Gene PubMed Count 17
PubMed Score 10.05
PubTator Score 25.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Multiple myeloma 1.227 0.001
astrocytic glioma -1.900 0.005
ependymoma -1.800 0.019
psoriasis 1.600 0.000
osteosarcoma -1.662 0.001
atypical teratoid / rhabdoid tumor -1.600 0.001
glioblastoma -1.600 0.002
lung cancer 2.600 0.000
diabetes mellitus -1.100 0.001
adult high grade glioma -1.600 0.001
ovarian cancer 2.600 0.000

Synonym

Accession P83876 B2RC18 O14834
Symbols BMKS
DIB1
DIM1
TXNL4
SNRNP15
U5-15kD

Gene

PDB

3JCR   1PQN   1QGV   1SYX   4BWQ   4BWS   4CDO  

Gene RIF (3)

PMID Text
25434003 Reporter gene and in vivo assays showed that the promoter deletions led to reduced expression of TXNL4A. Depletion of TXNL4A (Dib1) in yeast demonstrated reduced assembly of the tri-snRNP complex.
20307692 frameshift mutations in the PQBP-1 gene lead to expression of mutants lacking the ability to interact with U5-15kD
17177886 human dim1 is a peptidase with autocleavage activity that results in a thioredoxin-like core

AA Sequence

MSYMLPHLHNGWQVDQAILSEEDRVVVIRFGHDWDPTCMKMDEVLYSIAEKVKNFAVIYLVDITEVPDFN      1 - 70
KMYELYDPCTVMFFFRNKHIMIDLGTGNNNKINWAMEDKQEMVDIIETVYRGARKGRGLVVSPKDYSTKY     71 - 140
RY                                                                        141 - 142
//

Text Mined References (22)

PMID Year Title
25434003 2014 Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
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.
21269460 2011 Initial characterization of the human central proteome.
20858735 2010 Interactions of ErbB4 and Kap1 connect the growth factor and DNA damage response pathways.
20307692 2010 Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18559850 2008 Minor spliceosome components are predominantly localized in the nucleus.
17467737 2007 Structural basis for the bifunctionality of the U5 snRNP 52K protein (CD2BP2).
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