HBG1 - hemoglobin subunit gamma 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3047

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	References	Source
enables oxygen carrier activity	IDA IDA: Inferred from direct assay	22096240	GOA

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

Cellular Component GO Annotation	Evidence	References	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

HBG1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82819	Fetal Hemoglobin Antibody (YA2564)	WB	Human

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-159099	WIZ degrader 9	Degrader	99.29%	Unkown
HY-135146A	(Rac)-GSK-3484862	Inhibitor	98.76%	Unkown
HY-184536	DCN1 modulator-1	Modulator	/	Unkown
HY-RS06030	HBG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HBG1	RGD	RGD:620306