HBG1 - hemoglobin subunit gamma 1 Gene

Homo sapiens

Also known as HBGA; HBGR; HBG-T2; HSGGL1; PRO2979

Gene ID: 3047 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_000559.3	NP_000550.2	hemoglobin subunit gamma-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables oxygen carrier activity	IDA IDA: Inferred from direct assay	22096240	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in oxygen transport	IDA IDA: Inferred from direct assay	7543751	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of hemoglobin complex	IPI IPI: Inferred from physical interaction	881729	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

HBG1 Protein Structure

Globin

0
100
147 a.a.

Protein Preferred Names

Protein Names

hemoglobin subunit gamma-1

A-gamma globin

Related Diseases

Diseases

Alias

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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06030	HBG1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HBG1	RGD	RGD:620306

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