HBS1L - HBS1 like translational GTPase Gene

Also Known as ERFS; HBS1; EF-1a; eRF3c; HSPC276

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10767

About HBS1L

Cytogenetic location: 6q23.3 Genomic coordinates (GRCh38): 6:134,960,378-135,054,822 (from NCBI)

This gene has 16 transcripts (splice variants), 204 orthologues and 18 paralogues. Ubiquitous expression in bone marrow (RPKM 6.5), brain (RPKM 5.4) and 25 other tissues.

Summary

This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal Hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and Hemoglobin content. DNA polymorphisms at this region associate with fetal Hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]

HBS1L Products (4)

mRNA	Protein	Name
NM_001145158.2	NP_001138630.1	HBS1-like protein isoform 2
NM_001145207.2	NP_001138679.1	HBS1-like protein isoform 3
NM_001363686.2	NP_001350615.1	HBS1-like protein isoform 4
NM_006620.4	NP_006611.1	HBS1-like protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31515488	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nuclear-transcribed mRNA catabolic process, no-go decay	IDA IDA: Inferred from direct assay	23667253	GOA
involved in rescue of stalled ribosome	IDA IDA: Inferred from direct assay	21448132	GOA
involved in ribosome disassembly	IDA IDA: Inferred from direct assay	21448132	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Dom34-Hbs1 complex	IDA IDA: Inferred from direct assay	27863242	GOA
is active in cytosolic ribosome	IDA IDA: Inferred from direct assay	27863242	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HBS1L Protein Structure

HBS1_N

GTP_EFTU

GTP_EFTU_D2

GTP_EFTU_D3

0
200
400
600
684 a.a.

Protein Preferred Names	Protein Names
HBS1-like protein	ERF3-similar protein

Related Diseases

Diseases	Alias
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
Sickle Cell Disease	Hbs Disease Hemoglobin S Disease Scd Sickle Cell Disorders Sickling Disorder Due To Hemoglobin S Anemia, Sickle Cell Hb-Ss Disease Without Crisis Hbss Without Crisis Sickle-Cell Anaemia Without Crisis Scd - [Sickle Cell Disease] Sca - [Sickle Cell Anaemia] Sickle Cell Disease Nos Sickle Cell Disorder Sickle Cell Syndrome Sickle-Cell Anaemia Nos Sickle-Cell Disorder Nos Haemoglobin S Disease Haemoglobin Ss Disease Hb S Disease Hb Ss Disease Herrick Anaemia Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S Sickle-Cell Haemoglobin Disease Sickling Disorder Due To Haemoglobin S Hb-Ss Disease With Crisis Sickle Cell Crisis Sickle-Cell Disorder With Crisis Sickle-Cell Anaemia With Crisis Hbss With Crisis Hb S Disease With Mention Of Crisis Haemoglobin Ss Disease With Crisis Hb-Ss Disease With Vaso-Occlusive Pain Vaso-Occlusive Crisis
Hemoglobin E Disease	Hemoglobin E Hb-E Disease
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	ACOGS
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Beta-Thalassemia Intermedia
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
Hemoglobinopathy	Hemoglobinopathies
Fetal Hemoglobin Quantitative Trait Locus 1	Hereditary Persistence Of Fetal Hemoglobin Delta-Beta-Thalassemia Delta-Beta Thalassemia Delta Beta-Thalassemia HBFQTL1 Hemoglobin F, Hereditary Persistence Of Hpfh Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related Hemoglobin, Fetal, Quantitative Trait Locus 1 Hereditary Persistence Of Fetal Hemoglobin Thalassemia Hpfh - [Hereditary Persistence Of Fetal Haemoglobin] Fetal Haemoglobin Persistence Of Fetal Haemoglobin Persistent Haemoglobin F
Blood Protein Disease	Blood Protein Disorders Blood Protein Disorder
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Hemoglobin C Disease	Hb C Disease Hemoglobin C Hb-C Disease
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-183115	TNG961		/	Unkown
HY-183115A	(Rac)-TNG961		/	Unkown
HY-RS06035	HBS1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HBS1L	MGD	MGI:1891704
Canis familiaris	HBS1L	VGNC	VGNC:41612
Felis catus	HBS1L	VGNC	VGNC:67539
Rattus norvegicus	HBS1L	RGD	RGD:1308509
Bos taurus	HBS1L	VGNC	VGNC:29768
Macaca mulatta	HBS1L	VGNC	VGNC:73350