AHSP (alpha hemoglobin stabilizing protein)

2016-10-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
EDRF,ERAF
FUSION GENES

Other Information

Locus ID:

NCBI: 51327
MIM: 605821
HGNC: 18075
Ensembl: ENSG00000169877

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169877ENST00000302312Q9NZD4
ENSG00000169877ENST00000302312Q549J4
ENSG00000169877ENST00000564707H3BSK6

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
120661892002An abundant erythroid protein that stabilizes free alpha-haemoglobin.60
121920022002Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein.30
147156232004Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia.20
186769962008An iron responsive element-like stem-loop regulates alpha-hemoglobin-stabilizing protein mRNA.20
163396562005Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia.17
232646252013α-Hemoglobin stabilizing protein (AHSP) markedly decreases the redox potential and reactivity of α-subunits of human HbA with hydrogen peroxide.16
193496192009Analysis of human alpha globin gene mutations that impair binding to the alpha hemoglobin stabilizing protein.15
161861252005GATA-1 and Oct-1 are required for expression of the human alpha-hemoglobin-stabilizing protein gene.10
181668002008Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.10
208150472010Analysis of alpha hemoglobin stabilizing protein overexpression in murine β-thalassemia.10

Citation

Dessen P

AHSP (alpha hemoglobin stabilizing protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56599/ahsp