AHSP - alpha hemoglobin stabilizing protein Gene

Homo sapiens

Also known as EDRF; ERAF

Gene ID: 51327 | Gene type: protein coding

About AHSP

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,527,900-31,528,803 (from NCBI)

This gene has 3 transcripts (splice variants) and 80 orthologues. Restricted expression toward bone marrow (RPKM 331.1).

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]

AHSP Products(3)

mRNA	Protein	Name
NM_001318221.2	NP_001305150.1	alpha-hemoglobin-stabilizing protein
NM_001318222.2	NP_001305151.1	alpha-hemoglobin-stabilizing protein
NM_016633.4	NP_057717.1	alpha-hemoglobin-stabilizing protein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15550245	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AHSP Protein Structure

AHSP

0
102 a.a.

Protein Preferred Names

Protein Names

alpha-hemoglobin-stabilizing protein

alpha hemoglobin stabilising protein

AHSP Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	AHSP	Q9NZD4	UBE3A	Homo sapiens	Q05086-2	Y2H Prey Pooling	25416956
Intra	AHSP	Q9NZD4	FKBP1A	Homo sapiens	P62942	Validated Y2H	25416956
Intra	AHSP	Q9NZD4	HBA1	Homo sapiens	P69905	X-Ray Diffraction	15550245
Intra	AHSP	Q9NZD4	ZNF20	Homo sapiens	P17024	Y2H Array	32296183
Intra	AHSP	Q9NZD4	ZNF20	Homo sapiens	P17024	Y2H Prey Pooling	32296183
Intra	AHSP	Q9NZD4	ZC3H12A	Homo sapiens	Q5D1E8	Y2H Prey Pooling	25416956
Intra	AHSP	Q9NZD4	ZC3H12A	Homo sapiens	Q5D1E8	Validated Y2H	25416956
Intra	AHSP	Q9NZD4	ZC3H12A	Homo sapiens	Q5D1E8	Y2H Array	25416956
Intra	AHSP	Q9NZD4	ZC3H12A	Homo sapiens	Q5D1E8	Y2H Pooling	16189514
Intra	AHSP	Q9NZD4	VPS9D1	Homo sapiens	Q9Y2B5	Y2H Array	32296183
Intra	AHSP	Q9NZD4	VPS9D1	Homo sapiens	Q9Y2B5	Y2H Prey Pooling	32296183
Intra	AHSP	Q9NZD4	VPS9D1	Homo sapiens	Q9Y2B5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant AHSP Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76136	AHSP Protein, Human	Q9NZD4 (M1-S102)	≥95%

Related Diseases

Diseases

Alias

Beta-Thalassemia

Beta Thalassemia	Cooley'S Anemia
Mediterranean Anemia	Beta Thalassemia Intermedia
Erythroblastic Anemia	Thalassemia, Hispanic Gamma-Delta-Beta
Thalassemia Major	Thalassemia Minor
Beta-Plus-Thalassemia	Thalassemia, Beta
Beta Thalassemia Major	Beta Thalassemia Minor
Thalassemias, Beta-	Microcytemia, Beta Type
Thalassemia, Beta Type	B-THAL
Mediterranean Anaemia	Beta Thalassaemia Syndrome
Mediterranean Disease	Beta Thalassaemia Disease

Thalassemia

Sickle-Cell Thalassemia With Crisis	Sickle-Cell Thalassemia Without Crisis
Thalassemia Hb-S Disease With Crisis	Thalassemia Hb-S Disease Without Crisis
Thalassemias	Hereditary Leptocytosis
Haemoglobin Thalassaemia Disorder	Thalassaemia Syndrome
Thalassaemia Nos	Thalassemia Variants

Anal Fistula

Anorectal Fistula	Rectal Fistula
Allingham Ulcer	Perianal Fistula
Fistula In Ano	Anorectum Fistula

Plethora Of Newborn

Neonatal Polycythemia

Coronary Artery Vasospasm

Coronary Vasospasm

Coronary Artery Spasm

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

Creutzfeldt-Jakob Disease

Variant Creutzfeldt-Jakob Disease	CJD
Bovine Spongiform Encephalopathy	Vcjd
Inherited Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease, Familial
Creutzfeldt Jakob Disease	Creutzfeldt-Jacob Disease
Creutzfeldt Jacob Disease	Sporadic Creutzfeldt-Jakob Disease
Encephalopathy, Bovine Spongiform	Creutzfeldt-Jakob Disease, Variant, Resistance To
Creutzfeldt-Jakob Disease, Variant	Creutzfeldt Jacob Syndrome
Jakob-Creutzfeldt Disease	Subacute Spongiform Encephalopathy
Transmissible Virus Dementia	New Variant Of Cjd
Nv-Cjd	Variant Cjd
Variant Creutzfeldt-Jacob Disease	Sporadic Cjd
Inherited Cjd	Acquired Creutzfeldt-Jakob Disease
Variant Mcj	Encephalopathy Bovine Spongiform
Familial Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Syndrome
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease, Sporadic
Acquired Cjd	Scjd - [Sporadic Creutzfeldt-Jakob Disease]
Idiopathic Creutzfeldt-Jakob Disease	Creutzfeld-Jakob Disease Nos
Vcjd - [Variant Creutzfeldt-Jakob Disease]

Beta-Thalassemia Intermedia

Dressler'S Syndrome

Dressler Syndrome	Postmyocardial Infarction Syndrome
Donath-Landsteiner Hemolytic Anemia	Post-Myocardial Infarction Syndrome
Postmyocardial Infarction Pericarditis

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease	Coronary Artery Anomaly
Coronary Artery Disease, Susceptibility To	Myocardial Ischemia
Congenital Anomaly Of Coronary Artery	Coronary Arteriosclerosis
Coronary Disease	Coronary Heart Disease
Coronary Artery Disorder	LPAQTL
Lpa Deficiency, Congenital	Coronary Artery Abnormality
Coronary Artery Anomaly, Congenital	Chd
Coronary Syndrome	Congenital Malformations Of Coronary Vessels
Malformation Of Coronary Vessels	Congenital Coronary Artery Anomaly
Congenital Coronary Artery Deformity	Congenital Coronary Artery Disorder
Abnormal Coronary Artery	Congenital Coronary Artery Malposition
Congenital Coronary Disease	Congenital Anomaly Of Coronary Arteries

Hemoglobin H Disease

HBH	Hemoglobin H Disease, Nondeletional
Hemoglobin H Disease, Deletional	Alpha-Thalassemia Intermedia
Haemoglobin H Disease	Alpha-Thalassemia, Hemoglobin H Type
Hemoglobin H Disease, Deletional And Nondeletional	Alpha Thalassemia, Haemoglobin H Type
Alpha Thalassemia, Hemoglobin H Type	Haemoglobin H Disease, Deletional
Hbh Disease	Alpha-Thalassemia Hemoglobin H Type
Hemoglobin H Disease Deletional	Hemoglobin H Disease Non-Deletional
Alpha-Thalassemia	Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia
Alpha Thalassaemia Intermedia

Thalassemia Minor

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Hemoglobinopathy

Hemoglobinopathies

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Beta-Thalassemia Major

Cooley'S Anemia	Cooley Anemia
Mediterranean Anemia

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-155580	MAO A/HSP90-IN-2	Inhibitor	/	Phase 1

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-155577	MAO A/HSP90-IN-1		/	Unkown
HY-RS00487	AHSP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AHSP	VGNC	VGNC:59697
Macaca mulatta	AHSP	VGNC	VGNC:69631
Mus musculus	AHSP	MGD	MGI:2158492
Canis familiaris	AHSP	VGNC	VGNC:37732
Rattus norvegicus	AHSP	RGD	RGD:1306725
Bos taurus	AHSP	VGNC	VGNC:97237
Others	AHSP	NCBI

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