Property Summary

NCBI Gene PubMed Count 26
PubMed Score 2.70
PubTator Score 18.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Expression

  Differential Expression (6)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.409 7.8e-03
Multiple myeloma 1.242 1.4e-03
astrocytoma 1.200 2.6e-03
lung cancer 1.600 1.9e-03
group 3 medulloblastoma 1.200 2.4e-03
ovarian cancer 1.400 8.3e-03

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.
19917616 2010 The box H/ACA ribonucleoprotein complex: interplay of RNA and protein structures in post-transcriptional RNA modification.
19179534 2009 A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
19135898 2009 Purification of proteins associated with specific genomic Loci.
18989882 2009 NOLA1 gene mutations in acquired aplastic anemia.
18082603 2007 Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation.
17903301 2007 Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
15635413 2005 Nucleolar proteome dynamics.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15044956 2004 Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12244096 2002 Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1.
11790298 2002 Directed proteomic analysis of the human nucleolus.
11509230 2001 The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1.
11074001 2000 Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.
10757788 2000 In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs.
7566098 1995 Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.
1821816 Stable preparation of aldose reductase isoenzymes from human placenta.