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
36888630	2023	Induction of fetal hemoglobin: Lentiviral shRNA knockdown of HBS1L in β0-thalassemia/HbE erythroid cells.	0
36888630	2023	Induction of fetal hemoglobin: Lentiviral shRNA knockdown of HBS1L in β0-thalassemia/HbE erythroid cells.	0
34099068	2021	Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.	7
34099068	2021	Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.	7
32447424	2020	Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia.	8
32447424	2020	Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia.	8
30835870	2019	Histamine releasing factor and elongation factor 1 alpha secreted via malaria parasites extracellular vesicles promote immune evasion by inhibiting specific T cell responses.	21
30835870	2019	Histamine releasing factor and elongation factor 1 alpha secreted via malaria parasites extracellular vesicles promote immune evasion by inhibiting specific T cell responses.	21
28332727	2018	Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.	5
28332727	2018	Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.	5
28204585	2017	A short splicing isoform of HBS1L links the cytoplasmic exosome and SKI complexes in humans.	25
29066854	2017	2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio.	13
28204585	2017	A short splicing isoform of HBS1L links the cytoplasmic exosome and SKI complexes in humans.	25
29066854	2017	2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio.	13
26655225	2016	Chemical footprinting reveals conformational changes of 18S and 28S rRNAs at different steps of translation termination on the human ribosome.	4

Citation

Dessen P

HBS1L (HBS1 like translational GTPase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64189/hbs1l-(hbs1-like-translational-gtpase)