AHSP (alpha hemoglobin stabilizing protein)

2016-10-01 Affiliation

Identity

HGNC

AHSP

LOCATION

16p11.2

LOCUSID

51327

ALIAS

EDRF,ERAF

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: 51327
MIM: 605821
HGNC: 18075
Ensembl: ENSG00000169877

Variants:

dbSNP: 51327
ClinVar: 51327
TCGA: ENSG00000169877
COSMIC: AHSP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000169877	ENST00000302312	Q9NZD4
ENSG00000169877	ENST00000302312	Q549J4
ENSG00000169877	ENST00000564707	H3BSK6

Expression (GTEx)

100

150

200

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34378186	2022	Alpha haemoglobin-stabilising protein concentration in the red blood cells of patients with sickle cell anaemia with and without hydroxycarbamide treatment.	1
34378186	2022	Alpha haemoglobin-stabilising protein concentration in the red blood cells of patients with sickle cell anaemia with and without hydroxycarbamide treatment.	1
31190133	2019	Association of alpha hemoglobin-stabilizing protein (AHSP) gene mutation and disease severity among HbE-beta thalassemia patients.	4
31190133	2019	Association of alpha hemoglobin-stabilizing protein (AHSP) gene mutation and disease severity among HbE-beta thalassemia patients.	4
28337528	2017	A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.	3
28337528	2017	A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.	3
25611244	2016	α-Hemoglobin-stabilizing Protein: An Effective Marker for Erythroid Precursors in Bone Marrow Biopsy Specimens.	2
26995402	2016	Oxidative instability of hemoglobin E (β26 Glu→Lys) is increased in the presence of free α subunits and reversed by α-hemoglobin stabilizing protein (AHSP): Relevance to HbE/β-thalassemia.	9
25611244	2016	α-Hemoglobin-stabilizing Protein: An Effective Marker for Erythroid Precursors in Bone Marrow Biopsy Specimens.	2
26995402	2016	Oxidative instability of hemoglobin E (β26 Glu→Lys) is increased in the presence of free α subunits and reversed by α-hemoglobin stabilizing protein (AHSP): Relevance to HbE/β-thalassemia.	9
25648458	2015	Review: Beta-thalassemia and molecular chaperones.	5
26460260	2015	Study of alpha hemoglobin stabilizing protein expression in patients with β thalassemia and sickle cell anemia and its impact on clinical severity.	6
25648458	2015	Review: Beta-thalassemia and molecular chaperones.	5
26460260	2015	Study of alpha hemoglobin stabilizing protein expression in patients with β thalassemia and sickle cell anemia and its impact on clinical severity.	6
24740453	2014	Activation of STAT3 stimulates AHSP expression in K562 cells.	8

Citation

Dessen P

AHSP (alpha hemoglobin stabilizing protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56599/gene-fusions/gene-explorer/favicon/favicon-16x16.png