HBE1 - hemoglobin subunit epsilon 1 Gene

Homo sapiens

Also known as HBE

Gene ID: 3046 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11159543	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

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

Orthologs Information

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

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