1. Gene
  2. AHSP - alpha hemoglobin stabilizing protein Gene

AHSP - alpha hemoglobin stabilizing protein Gene

中文名称:α血红蛋白稳定蛋白

种属: Homo sapiens

同用名: EDRF; ERAF

基因 ID: 51327 | 基因类型: protein coding

关于 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).

功能概要

该基因编码分子伴侣,该分子伴侣特异性结合游离α-珠蛋白并参与血红蛋白组装。编码的蛋白质与单体 α 珠蛋白结合,直到它被转移到 β 珠蛋白上形成异二聚体,后者又与另一个异二聚体结合形成稳定的四聚体血红蛋白。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 12 月]

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 基因产物(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

AHSP 蛋白结构

AHSP

AHSP: Alpha-haemoglobin stabilising protein (5 - 93)

  • 0
  • 102 a.a.
蛋白主名 其他名称

alpha-hemoglobin-stabilizing protein

alpha hemoglobin stabilising protein

重组 AHSP 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76136 AHSP Protein, Human Q9NZD4 (M1-S102) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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