1. Gene
  2. HBG1 - hemoglobin subunit gamma 1 Gene

HBG1 - hemoglobin subunit gamma 1 Gene

中文名称:血红蛋白亚基γ1

种属: Homo sapiens

同用名: HBGA; HBGR; HBG-T2; HSGGL1; PRO2979

基因 ID: 3047 | 基因类型: protein coding

关于 HBG1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:5,248,269-5,249,857 (from NCBI)

This gene has 3 transcripts (splice variants), 548 orthologues, 11 paralogues and is associated with 4 phenotypes.

功能概要

γ 珠蛋白基因 (HBG1 和 HBG2) 通常在胎儿肝脏、脾脏和骨髓中表达。两条 γ 链和两条 α 链构成胎儿血红蛋白 (HbF) ,通常在出生时被成人血红蛋白 (HbA) 取代。在某些 β-地中海贫血和相关疾病中,γ 链的产生会持续到成年期。两种类型的伽马链在残基 136 处有所不同,其中甘氨酸存在于 G-伽马产物 (HBG2) 中,而丙氨酸存在于 A-伽马产物 (HBG1) 中。前者在出生时占主导地位。 β-珠蛋白簇中基因的顺序是:5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'。[RefSeq 提供,2008 年 7 月]

The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

HBG1 基因产物(1)

mRNA Protein Name
NM_000559.3 NP_000550.2 hemoglobin subunit gamma-1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables oxygen carrier activity IDA
IDA: 通过直接分析推断
22096240 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in oxygen transport IDA
IDA: 通过直接分析推断
7543751 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of hemoglobin complex IPI
IPI: 通过物理相互作用推断
881729 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

HBG1 蛋白结构

Globin

Globin: Globin (8 - 112)

  • 0
  • 100
  • 147 a.a.
蛋白主名 其他名称

hemoglobin subunit gamma-1

A-gamma globin

HBG1 抗体

目录号 产品名 应用 反应物种
HY-P82819 Fetal Hemoglobin Antibody (YA2564) WB Human

关联疾病

疾病名称 别名
Fetal Hemoglobin Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin

Delta-Beta-Thalassemia

Delta-Beta Thalassemia

Delta Beta-Thalassemia

HBFQTL1

Hemoglobin F, Hereditary Persistence Of

Hpfh

Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related

Hemoglobin, Fetal, Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin Thalassemia

Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]

Fetal Haemoglobin

Persistence Of Fetal Haemoglobin

Persistent Haemoglobin F

Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome

Hpfh-Beta-Thalassemia Syndrome

Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Hpfh-Sickle Cell Disease Syndrome

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

Sickle Cell Disease

Hbs Disease

Hemoglobin S Disease

Scd

Sickle Cell Disorders

Sickling Disorder Due To Hemoglobin S

Anemia, Sickle Cell

Hb-Ss Disease Without Crisis

Hbss Without Crisis

Sickle-Cell Anaemia Without Crisis

Scd - [Sickle Cell Disease]

Sca - [Sickle Cell Anaemia]

Sickle Cell Disease Nos

Sickle Cell Disorder

Sickle Cell Syndrome

Sickle-Cell Anaemia Nos

Sickle-Cell Disorder Nos

Haemoglobin S Disease

Haemoglobin Ss Disease

Hb S Disease

Hb Ss Disease

Herrick Anaemia

Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S

Sickle-Cell Haemoglobin Disease

Sickling Disorder Due To Haemoglobin S

Hb-Ss Disease With Crisis

Sickle Cell Crisis

Sickle-Cell Disorder With Crisis

Sickle-Cell Anaemia With Crisis

Hbss With Crisis

Hb S Disease With Mention Of Crisis

Haemoglobin Ss Disease With Crisis

Hb-Ss Disease With Vaso-Occlusive Pain

Vaso-Occlusive Crisis

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

Hemoglobinopathy

Hemoglobinopathies

Erythroleukemia
Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Beta-Thalassemia Intermedia
Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Hemoglobin C Disease

Hb C Disease

Hemoglobin C

Hb-C Disease

Autosomal Dominant Beta Thalassemia

Inclusion Body Beta-Thalassemia

Thalassemia Minor
Ghosal Hematodiaphyseal Dysplasia

Ghosal Syndrome

Ghosal Hematodiaphyseal Syndrome

GHDD

Diaphyseal Dysplasia-Anemia Syndrome

Ghosal Hematodiaphyseal Dysplasia Syndrome

Diaphyseal Dysplasia Associated With Anemia

Ghosal Hemato-Diaphyseal Dysplasia

Ghosal-Type Hemato-Diaphyseal Dysplasia

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Blood Protein Disease

Blood Protein Disorders

Blood Protein Disorder

Alpha-Thalassemia Myelodysplasia Syndrome

ATMDS

Acquired Hemoglobin H Disease

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Acquired Hbh Disease

Alpha-Thalassemia-Myelodysplastic Syndrome

Hemoglobin H Disease, Acquired

Acquired Alpha-Thalassemia With Myelodysplastic Syndrome

Hemoglobin H Disease Acquired

Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic

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
Rattus norvegicus HBG1 RGD RGD:620306