Property Summary

NCBI Gene PubMed Count 45
PubMed Score 316.16
PubTator Score 49.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -2.200 3.7e-02
psoriasis -2.400 3.0e-04
osteosarcoma -2.274 1.5e-06
posterior fossa group B ependymoma -1.500 2.9e-09
glioblastoma -1.400 1.0e-03
medulloblastoma, large-cell -1.300 8.0e-03
pancreatic ductal adenocarcinoma liver m... -1.795 3.8e-04
lung cancer 1.600 3.7e-03
pediatric high grade glioma -1.100 4.9e-04
group 4 medulloblastoma 1.200 2.5e-02
acute myeloid leukemia -1.100 1.9e-02
ovarian cancer -1.900 7.2e-07

Protein-protein Interaction (6)

Gene RIF (21)

PMID Text
26740584 we find that the interaction of UPF2 with UPF3b interferes with the assembly of the UPF2-eRF3 complex, and that UPF2 binds UPF3b more strongly than eRF3
26655225 eRF3 neither interacts with the rRNA ribosephosphate backbone nor dissociates from the complex after GTP hydrolysis at translation termination.
25488618 The study compares polymorphism at BCL11A to HBS1L-MYB loci and explains less of the variance in HbF in patients with sickle cell disease in Cameroon.
24667352 Genetic variants of HBS1L is associated with sickle cell disease.
24614105 Several HBS1L-MYB intergenic variants reduce transcription factor binding, affecting interactions with MYB and MYB expression levels. This may explain the genetic association of HBS1L-MYB intergenic polymorphisms with erythroid traits and HbF levels.
23667253 The non-stop decay mechanism exists in mammalian cells and involves Hbs1, Dom34, and the exosome-Ski complex.
22936743 Studies indicate that single nucleotide polymorphisms (SNPs) in regions of BCL11A and HBS1L-MYB intergenic polymorphism are the major modifiers of HbF in African Americans.
21448132 Pelota/Hbs1 induced dissociation of elongation complexes from ribosomes and release of peptidyl-tRNA, but only in the presence of ABCE1.
21385855 A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.
21068433 Observational study of gene-disease association. (HuGE Navigator)
20472475 SNPs in BCL11A and the HBS1L-MYB region did not show statistically significant correlations with HbFlevels.This suggests that the BCL11A and HBS1L-MYB loci have a minor effect on HbF level compared to the XmnI QTL in beta-thalassemia intermedia patients.
20418951 crystal structures of the MLLE domain from PABPC1 in complex with the two PAM2 regions of eRF3
20183929 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19862010 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19696200 Observational study of gene-disease association. (HuGE Navigator)
19148297 Observational study of gene-disease association. (HuGE Navigator)
18839276 Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E.
18839276 Observational study of gene-disease association. (HuGE Navigator)
18667698 Observational study of gene-disease association. (HuGE Navigator)
17712044 The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts.
17592125 HBS1L-related genetic variants play a key role in control of fetal hemoglobin levels.

AA Sequence

MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTAAQFIYSRRDKPSVEPVEEYDYEDLKESSNSVSN      1 - 70
HQLSGFDQARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGK     71 - 140
IAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLE    141 - 210
TASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHM    211 - 280
LYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKD    281 - 350
FIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQE    351 - 420
ITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRL    421 - 490
CVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDII    491 - 560
KINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKK    561 - 630
KPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE                    631 - 684
//

Text Mined References (51)

PMID Year Title
26740584 2016 Human nonsense-mediated mRNA decay factor UPF2 interacts directly with eRF3 and the SURF complex.
26655225 2016 Chemical footprinting reveals conformational changes of 18S and 28S rRNAs at different steps of translation termination on the human ribosome.
25488618 2015 Polymorphism at BCL11A compared to HBS1L-MYB loci explains less of the variance in HbF in patients with sickle cell disease in Cameroon.
25372704 2014 Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
24667352 2014 Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon.
24647736 2014 Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
24614105 2014 HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.
24149102 2013 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
24026423 2014 A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
23935956 2013 Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
23667253 2013 The Hbs1-Dom34 protein complex functions in non-stop mRNA decay in mammalian cells.
23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23043469 2013 HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
22936743 2012 Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.
22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
22139419 2011 New gene functions in megakaryopoiesis and platelet formation.
21738478 2011 Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
21448132 2011 Dissociation by Pelota, Hbs1 and ABCE1 of mammalian vacant 80S ribosomes and stalled elongation complexes.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21385855 2011 A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.
21269460 2011 Initial characterization of the human central proteome.
21068433 2011 Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia.
20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.
20472475 2010 The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients.
20418951 2010 Molecular basis of eRF3 recognition by the MLLE domain of poly(A)-binding protein.
20183929 2010 A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19946888 2010 Defining the membrane proteome of NK cells.
19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.
19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
19696200 2009 Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19148297 2009 Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18839276 2008 Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18667698 2008 DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
17712044 2007 The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans.
17592125 2007 Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10470851 1999 Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9872408 1998 The product of the mammalian orthologue of the Saccharomyces cerevisiae HBS1 gene is phylogenetically related to eukaryotic release factor 3 (eRF3) but does not carry eRF3-like activity.