AHSP alpha hemoglobin stabilizing protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: AHSPprovided by HGNC
Official Full Name: alpha hemoglobin stabilizing proteinprovided by HGNC
Primary source: HGNC:HGNC:18075
See related: Ensembl:ENSG00000169877 MIM:605821; AllianceGenome:HGNC:18075
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EDRF; ERAF
Summary: This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression: Restricted expression toward bone marrow (RPKM 331.1) See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (31527900..31528803)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (31915293..31916196)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31539221..31540124)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alpha haemoglobin-stabilising protein concentration in the red blood cells of patients with sickle cell anaemia with and without hydroxycarbamide treatment.
Title: Alpha haemoglobin-stabilising protein concentration in the red blood cells of patients with sickle cell anaemia with and without hydroxycarbamide treatment.
The study documents that among the HbE beta thalassemia patients with varying severity, an exon mutation in AHSP is significantly prevalent only among the transfusion-dependent beta-thalassemia patients.
Title: Association of alpha hemoglobin-stabilizing protein (AHSP) gene mutation and disease severity among HbE-beta thalassemia patients.
In the presence of free alpha subunits and H2O2, both HbA and HbE showed bCys93 oxidation which increased with higher H2O2 concentrations. In the presence of Alpha-hemoglobin stabilizing protein (AHSP)Cys93 oxidation was substantially reduced in both proteins.in the presence of excess free alpha-subunit and under the same oxidative conditions, these events are substantially increased for HbE compared to HbA
Title: 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.
Findings indicate that alpha-hemoglobin-stabilizing protein (AHSP) expression is a biomarker of hemoglobin H (HbH) disease severity and infer an important role of AHSP in modulating the pathophysiology of this disease.
Title: A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.
AHSP is predominantly expressed in erythroid precursors in bone marrow biopsy specimens from patients with hematologic malignancies.
Title: α-Hemoglobin-stabilizing Protein: An Effective Marker for Erythroid Precursors in Bone Marrow Biopsy Specimens.
AHSP expression was higher in patients with sickle cell anemia versus thalassemia, with no significant difference between BTM and BTI. Expression was higher in patients with NTDT and on hydroxyurea therapy.
Title: Study of alpha hemoglobin stabilizing protein expression in patients with β thalassemia and sickle cell anemia and its impact on clinical severity.
In maturing RBC progenitors AHSP bind to free alpha-globin chains to increase the HbA production. (Review)
Title: Review: Beta-thalassemia and molecular chaperones.
analysis showed binding of STAT3 to AHSP promoter and binding was significantly augmented with IL6 stimulation and upon alpha-globin overexpression
Title: Activation of STAT3 stimulates AHSP expression in K562 cells.
The relationship between AHSP gene expression, disease severity, and the beta/alpha globin mRNA ratio was studied among different homozygote beta-thalassemia patients.
Title: Relationship between AHSP gene expression, β/α globin mRNA ratio, and clinical severity of the β-thalassemia patients.
alpha-Hemoglobin-stabilizing protein (AHSP) perturbs the proximal heme pocket of oxy-alpha-hemoglobin and weakens the iron-oxygen bond.
Title: α-Hemoglobin-stabilizing protein (AHSP) perturbs the proximal heme pocket of oxy-α-hemoglobin and weakens the iron-oxygen bond.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of alpha hemoglobin stabilizing protein (AHSP) in Vif-expression T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62026 (e-PCR)
- UniSTS:139112

RH91101 (e-PCR)
- UniSTS:87959

RH68152 (e-PCR)
- UniSTS:87706

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hemoglobin binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in erythrocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in hemoglobin metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in hemopoiesis	NAS Non-traceable Author Statement more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein stabilization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: alpha-hemoglobin-stabilizing protein

Names: alpha hemoglobin stabilising protein; erythroid differentiation associated factor; erythroid differentiation-related factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046852.1 RefSeqGene

Range

5049..5952

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1073

mRNA and Protein(s)

NM_001318221.2 → NP_001305150.1 alpha-hemoglobin-stabilizing protein

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AF112995, BG943964, H94920

Consensus CDS

CCDS10716.1

UniProtKB/Swiss-Prot

Q8TD01, Q9NZD4

UniProtKB/TrEMBL

Q549J4

Conserved Domains (1) summary

pfam09236
Location:5 → 91

AHSP; Alpha-haemoglobin stabilizing protein
NM_001318222.2 → NP_001305151.1 alpha-hemoglobin-stabilizing protein

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AF112995, R29304

Consensus CDS

CCDS10716.1

UniProtKB/Swiss-Prot

Q8TD01, Q9NZD4

UniProtKB/TrEMBL

Q549J4

Conserved Domains (1) summary

pfam09236
Location:5 → 91

AHSP; Alpha-haemoglobin stabilizing protein
NM_016633.4 → NP_057717.1 alpha-hemoglobin-stabilizing protein

See identical proteins and their annotated locations for NP_057717.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AF112995, BG940214

Consensus CDS

CCDS10716.1

UniProtKB/Swiss-Prot

Q8TD01, Q9NZD4

UniProtKB/TrEMBL

Q549J4

Related

ENSP00000307199.4, ENST00000302312.9

Conserved Domains (1) summary

pfam09236
Location:5 → 91

AHSP; Alpha-haemoglobin stabilizing protein