Property Summary

NCBI Gene PubMed Count 26
Grant Count 7
R01 Count 4
Funding $665,534.33
PubMed Score 2.70
PubTator Score 18.79

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.409 0.008
Multiple myeloma 1.242 0.001
astrocytoma 1.200 0.003
lung cancer 1.600 0.002
group 3 medulloblastoma 1.200 0.002
ovarian cancer 1.400 0.008

Gene RIF (6)

PMID Text
23707062 The deregulated expression and function of H/ACA snoRNPs may underlie specific pathological features of human disease.
20332099 Observational study of gene-disease association. (HuGE Navigator)
19917616 The box H/ACA ribonucleoprotein complex: interplay of RNA and protein structures in post-transcriptional RNA modification.
18989882 heterozygous point mutations in NOLA1 gene are not responsible for aplastic anemia in our patients at least acting via telomere
18989882 Observational study of gene-disease association. (HuGE Navigator)
17903301 Genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MSFRGGGRGGFNRGGGGGGFNRGGSSNHFRGGGGGGGGGNFRGGGRGGFGRGGGRGGFNKGQDQGPPERV      1 - 70
VLLGEFLHPCEDDIVCKCTTDENKVPYFNAPVYLENKEQIGKVDEIFGQLRDFYFSVKLSENMKASSFKK     71 - 140
LQKFYIDPYKLLPLQRFLPRPPGEKGPPRGGGRGGRGGGRGGGGRGGGRGGGFRGGRGGGGGGFRGGRGG    141 - 210
GFRGRGH                                                                   211 - 217
//

Text Mined References (28)

PMID Year Title
24270157 2013 A quantitative telomeric chromatin isolation protocol identifies different telomeric states.
24204828 2013 Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
23707062 2013 H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.
23685356 2013 HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22527283 2012 An enhanced H/ACA RNP assembly mechanism for human telomerase RNA.
21269460 2011 Initial characterization of the human central proteome.
20351177 2010 Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo.
20332099 2010 A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
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