HBE1 - hemoglobin subunit epsilon 1 Gene

Also Known as HBE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3046

About HBE1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:5,268,345-5,269,945 (from NCBI)

This gene has 3 transcripts (splice variants), 549 orthologues and 11 paralogues.

Summary

The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic Hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult Hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008]

HBE1 Products (1)

mRNA	Protein	Name
NM_005330.4	NP_005321.1	hemoglobin subunit epsilon

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11159543	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in oxygen transport	IDA IDA: Inferred from direct assay	11159543	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of hemoglobin complex	IPI IPI: Inferred from physical interaction	9665850	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

HBE1 Protein Structure

Globin

0
100
147 a.a.

Protein Preferred Names	Protein Names
hemoglobin subunit epsilon	epsilon globin

HBE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HBE1	P02100	HBQ1	Homo sapiens	P09105	Y2H Array	32296183
Intra	HBE1	P02100	HBQ1	Homo sapiens	P09105	Y2H Prey Pooling	32296183
Intra	HBE1	P02100	HBQ1	Homo sapiens	P09105	Validated Y2H	32296183
Intra	HBE1	P02100	HBA1	Homo sapiens	P69905	Y2H Array	32296183
Intra	HBE1	P02100	HBA1	Homo sapiens	P69905	Validated Y2H	32296183
Intra	HBE1	P02100	HBA1	Homo sapiens	P69905	Affinity Chrom	11159543
Intra	HBE1	P02100	HBA1	Homo sapiens	P69905	Y2H Prey Pooling	32296183
Intra	HBE1	P02100	HBZ	Homo sapiens	P02008	Affinity Chrom	11159543
Intra	HBE1	P02100	HBZ	Homo sapiens	P02008	Y2H Prey Pooling	32296183
Intra	HBE1	P02100	HBZ	Homo sapiens	P02008	Y2H Array	32296183
Intra	HBE1	P02100	TTC19	Homo sapiens	Q6DKK2	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
Hemoglobin E Disease	Hemoglobin E Hb-E Disease
Beta-Thalassemia Intermedia
Erythroleukemia
Trichuriasis	Whipworm Infection Whipworm Disease Trichocephaliasis Infection By Trichuris Trichura Trichuriasis Infection Trichuris Trichiura Infection Infection By Trichuris Trichiura Trichocephalosis Infection By Trichocephalus Trichiura Infection By Trichuris Infection By Trichuris Trichiuria Trichuriosis Whipworm Infection Due To Trichuris Trichiura Trichocephalus Infestation Trichuris Infestation Whipworm Infestation
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
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
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Thalassemia Minor
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
Hemoglobin C Disease	Hb C Disease Hemoglobin C Hb-C Disease
Histiocytosis-Lymphadenopathy Plus Syndrome	H Syndrome Histiocytosis With Joint Contractures And Sensorineural Deafness Faisalabad Histiocytosis Shml Hjcd Rosai-Dorfman Disease Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Phid Sinus Histiocytosis And Massive Lymphadenopathy Familial Rosai-Dorfman Disease Slc29a3 Spectrum Disorder Sinus Histiocytosis With Massive Lymphadenopathy Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Rosai-Dorfman Disease, Familial Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness Rdd Rosaï-Dorfman Disease Slc29a3 Disorder Destombes-Rosai-Dorfman Disease Rosai-Dorfman-Destombes Disease HLAS Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness H Disease Sinus Histiocytosis
Hemoglobin D Disease	Hb-D Disease Punjab Disease Los Angeles Disease Hb D Los Angeles Disease Hb D Punjab Disease
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Hemoglobinopathy	Hemoglobinopathies
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
Blood Protein Disease	Blood Protein Disorders Blood Protein Disorder
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]
Malaria	Malaria, Susceptibility To Malaria, Resistance To Malaria, Cerebral Cerebral Malaria Malaria, Severe, Susceptibility To Malaria, Severe, Resistance To Malaria, Cerebral, Susceptibility To Induced Malaria Malaria, Vivax, Protection Against Malaria, Severe Malaria, Cerebral, Reduced Risk Of Malaria, Protection Against Resistance To Malaria Due To G6pd Deficiency Malaria Due To G6pd Deficiency Malarial Encephalitis CM Malaria Cerebral Susceptibility To Malaria Acute Pernicious Fever Aestivo-Autumnal Fever Aestivo Autumnal Malaria Chagres Fever Continued Malaria Fever Estivo-Autumnal Fever Estivo-Autumnal Malaria Estivo-Autumnal Malarial Fever Falciparum Fever Malignant Tertian Fever Malignant Tertian Malaria Pernicious Intermittent Fever Pernicious Malaria Quotidian Malaria Subtertian Fever Subtertian Malaria Fever Subtertian Malignant Tertian Malaria Tropical Malaria Algid Malaria Bilious Haemoglobinuric Fever Black Water Fever Blackwater Fever Malarial Blackwater Fever Severe Malarial Falciparum West African Fever Malarial Haematinuria Haemoglobinuric Fever Haemoglobinuric Malaria Severe Plasmodium Falciparum Malaria Malarial Haemoglobinuria Malarial Haematuria Falciparum Malaria [Malignant Tertian] Malaria Tropica Malarial Shock Chagres Virus Disease Malignant Malaria Mtm - [Malignant Tertian Malaria] Tm -[Malignant Tertian Malaria] Panama Fever St - [Subtertian Malaria] Malarial Quotidian Benign Tertian Malaria Tertian Ague Vivax Fever Plasmodium Vivax Malaria Nos Btm - [Benign Tertian Malaria] Bt - [Benign Tertian Malaria] Vivax Malaria Benign Tertian Vivax Malaria Tertian Malaria Quartan Malaria Quartan Ague Quartan Fever Plasmodium Malariae Malaria Nos Quartan Malarial Malaria By Plasmodium Malariae Malariae Malaria Ovale Tertian Malaria Plasmodium Ovale Fever Malaria Fever By Plasmodium Ovale Ovale Malaria Malaria By Plasmodium Ovale Malarial Ovale Marsh Fever Remittent Congestive Fever Coastal Fever Remittent Gastric Fever Miasmatic Fever Congestive Remittent Fever Intermittent Fever Jungle Fever Paludism Cameroon Fever Ague Corsican Fever Intermittent Bilious Fever Disease Due To Plasmodiidae Malarial Fever Plasmodiosis Remittent Fever Roman Fever Malaria Fever Nos Malaria Nos Paludal Fever Clinically Diagnosed Malaria Clinically Diagnosed Malaria Without Parasitological Confirmation Congestive Fever Malarial Cachexia Marsh Cachexia Paludal Cachexia Recurrent Malaria Remittent Malaria
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Glucosephosphate Dehydrogenase Deficiency	G6pd Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency Deficiency Of Glucose-6-Phosphate Dehydrogenase Glucose 6 Phosphate Dehydrogenase Deficiency Deficiency Of G-6pd G6pdd
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia
Hypochromic Microcytic Anemia	Anemia, Hypochromic Microcytic Microcytic Hypochromic Anemia
Splenic Sequestration
Plasmodium Vivax Malaria	Malaria, Vivax Malaria By Plasmodium Vivax Vivax Malaria Malaria Vivax
Physical Disorder	Physical Illness
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
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
Deficiency Anemia	Anemia Deficiency Anemias Anaemia

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06028	HBE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HBE1	RGD	RGD:1305115
Mus musculus	HBE1	MGD	MGI:96027
Others	HBE1	NCBI