HBE1 hemoglobin subunit epsilon 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HBE1provided by HGNC
Official Full Name: hemoglobin subunit epsilon 1provided by HGNC
Primary source: HGNC:HGNC:4830
See related: Ensembl:ENSG00000213931 MIM:142100; AllianceGenome:HGNC:4830
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HBE
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]
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5268345..5269945, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5327706..5329310, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5289575..5291175, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Characterization of Haemoglobin E.
Title: Molecular Characterization of Haemoglobin E.
Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand.
Title: Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand.
MicroRNA expression patterns in HbE/beta-thalassemia patients: The passwords to unlock fetal hemoglobin expression in beta-hemoglobinopathies.
Title: MicroRNA expression patterns in HbE/β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies.
Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels.
Title: Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels.
epsilon-globin expression is regulated by SUV4-20h1.
Title: ε-globin expression is regulated by SUV4-20h1.
These data indicate that HP1-gamma is a novel epigenetic repressor of epsilon-globin gene expression.
Title: Heterochromatin Protein 1γ Is a Novel Epigenetic Repressor of Human Embryonic ϵ-Globin Gene Expression.
Fetal varepsilon-globin gene expression is significantly greater than adult expression and is increased in maternal plasma compared to non-pregnant samples.
Title: Epsilon globin gene expression in developing human fetal tissues.
findings indicate the Xmn1-Ggamma polymorphism is likely to be one factor that influences the production of HbF in beta-thalassemia/HbE patients, but not in homozygous HbE patients
Title: Analysis of the Xmn1-(G) γ polymorphism in β-thalassemia/hemoglobin E (HbE) and homozygous HbE patients with low and high levels of HbF.
Data indicate that Myb and BCL11A cooperate with DNMT1 to achieve developmental repression of embryonic and fetal beta-like human transgenic globin genes in the adult erythroid environment.
Title: Transcriptional regulators Myb and BCL11A interplay with DNA methyltransferase 1 in developmental silencing of embryonic and fetal β-like globin genes.
Data indicate that in embryonic stem cells (hESCs)-derived erythroblasts where both epsilon and gamma globin were active, epsilon globin was immediately silenced upon transfer, whereas gamma globin continued to be expressed for months.
Title: Transcriptional environment and chromatin architecture interplay dictates globin expression patterns of heterospecific hybrids derived from undifferentiated human embryonic stem cells or from their erythroid progeny.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC84149P2 (e-PCR)
- UniSTS:273441

PMC139749P4 (e-PCR)
- UniSTS:270891

ECD05205 (e-PCR)
- UniSTS:286271

ECD05206 (e-PCR)
- UniSTS:286272

RH79666 (e-PCR)
- UniSTS:88133

PMC316536P3 (e-PCR)
- UniSTS:272999

PMC19271P1 (e-PCR)
- UniSTS:271746

PMC86936P3 (e-PCR)
- UniSTS:273562

REN97522 (e-PCR)
- UniSTS:422320

REN97523 (e-PCR)
- UniSTS:422321

REN97524 (e-PCR)
- UniSTS:422322

PMC262396P5 (e-PCR)
- UniSTS:272307

REN97525 (e-PCR)
- UniSTS:422323

PMC262396P6 (e-PCR)
- UniSTS:272308

REN97526 (e-PCR)
- UniSTS:422324

PMC262396P7 (e-PCR)
- UniSTS:272309

REN97527 (e-PCR)
- UniSTS:422325

PMC262396P8 (e-PCR)
- UniSTS:272310

REN97528 (e-PCR)
- UniSTS:422326

PMC262396P9 (e-PCR)
- UniSTS:272311

REN97529 (e-PCR)
- UniSTS:422327

REN97530 (e-PCR)
- UniSTS:422328

REN97531 (e-PCR)
- UniSTS:422329

REN97532 (e-PCR)
- UniSTS:422330

REN97533 (e-PCR)
- UniSTS:422331

REN97534 (e-PCR)
- UniSTS:422332

REN97535 (e-PCR)
- UniSTS:422333

REN97536 (e-PCR)
- UniSTS:422334

REN97537 (e-PCR)
- UniSTS:422335

REN97538 (e-PCR)
- UniSTS:422336

D11S2383 (e-PCR)
- UniSTS:39896

ECD05105 (e-PCR)
- UniSTS:286171

ECD23123 (e-PCR)
- UniSTS:304107

ECD05912 (e-PCR)
- UniSTS:286974

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables hemoglobin alpha binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in carbon dioxide transport	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxygen transport	IDA Inferred from Direct Assay more info	PubMed
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: hemoglobin subunit epsilon

Names: epsilon globin; hemoglobin epsilon chain; hemoglobin, epsilon 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_000007.3 RefSeqGene

Range

27671..29271

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005330.4 → NP_005321.1 hemoglobin subunit epsilon

See identical proteins and their annotated locations for NP_005321.1

Status: REVIEWED

Source sequence(s)

AC104389

Consensus CDS

CCDS7756.1

UniProtKB/Swiss-Prot

P02100, Q6FH44

UniProtKB/TrEMBL

D9YZU7

Related

ENSP00000380104.2, ENST00000396895.3

Conserved Domains (1) summary

cd08925
Location:8 → 146

Hb-beta-like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits