HBS1L (HBS1 like translational GTPase)

2014-11-01 Affiliation

Identity

HGNC

HBS1L

LOCATION

6q23.3

LOCUSID

10767

ALIAS

EF-1a,ERFS,HBS1,HSPC276,eRF3c

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10767
MIM: 612450
HGNC: 4834
Ensembl: ENSG00000112339

Variants:

dbSNP: 10767
ClinVar: 10767
TCGA: ENSG00000112339
COSMIC: HBS1L

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000112339	ENST00000314674	E9PLR4
ENSG00000112339	ENST00000367820	G5E991
ENSG00000112339	ENST00000367822	Q9Y450
ENSG00000112339	ENST00000367826	Q9Y450
ENSG00000112339	ENST00000367837	Q9Y450
ENSG00000112339	ENST00000367837	D9YZV0
ENSG00000112339	ENST00000415177	J3QT46
ENSG00000112339	ENST00000524715	E9PN23
ENSG00000112339	ENST00000525067	E9PJ90
ENSG00000112339	ENST00000526100	H0YD85
ENSG00000112339	ENST00000527507	E9PS53
ENSG00000112339	ENST00000527578	B7Z524
ENSG00000112339	ENST00000529169	H0YES5
ENSG00000112339	ENST00000529641	E9PHZ9
ENSG00000112339	ENST00000529882	E9PMN1
ENSG00000112339	ENST00000533274	H0YDX7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
mRNA surveillance pathway	KEGG	ko03015
mRNA surveillance pathway	KEGG	hsa03015
Legionellosis	KEGG	ko05134
Legionellosis	KEGG	hsa05134
Gene Expression	REACTOME	R-HSA-74160
Deadenylation-dependent mRNA decay	REACTOME	R-HSA-429914
mRNA decay by 3' to 5' exoribonuclease	REACTOME	R-HSA-429958

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
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.	175
19862010	2009	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	169
21448132	2011	Dissociation by Pelota, Hbs1 and ABCE1 of mammalian vacant 80S ribosomes and stalled elongation complexes.	111
17592125	2007	Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.	91
20183929	2010	A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.	57
24614105	2014	HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.	53
21385855	2011	A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.	49
21068433	2011	Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia.	39
27681415	2016	Dynamic Regulation of a Ribosome Rescue Pathway in Erythroid Cells and Platelets.	37
19696200	2009	Amelioration of Sardinian beta0 thalassemia by genetic modifiers.	36

Citation

Dessen P

HBS1L (HBS1 like translational GTPase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64189/hbs1l