AHSP - alpha hemoglobin stabilizing protein Gene

Also Known as EDRF; ERAF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51327

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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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%, as determined by reducing SDS-PAGE.

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
Pre-clinical Phase

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 (4)

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 Set	/	Unkown
HY-RS22099	Ahsp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28619	Ahsp Rat Pre-designed siRNA Set A	Pre-designed Set	/	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