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Aliases for HBE1 Gene

Aliases for HBE1 Gene

  • Hemoglobin Subunit Epsilon 1 2 3 5
  • Hemoglobin Epsilon Chain 3 4
  • Hemoglobin, Epsilon 1 2 3
  • Epsilon-Globin 3 4
  • HBE 3 4
  • Epsilon Globin 3

External Ids for HBE1 Gene

Previous GeneCards Identifiers for HBE1 Gene

  • GC11M006037
  • GC11M005591
  • GC11M005249
  • GC11M005214
  • GC11M005233
  • GC11M005247
  • GC11M005289
  • GC11M004949

Summaries for HBE1 Gene

Entrez Gene Summary for HBE1 Gene

  • 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]

GeneCards Summary for HBE1 Gene

HBE1 (Hemoglobin Subunit Epsilon 1) is a Protein Coding gene. Diseases associated with HBE1 include hemoglobin e disease and hemoglobin c disease. Among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.

UniProtKB/Swiss-Prot for HBE1 Gene

  • The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.

Gene Wiki entry for HBE1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBE1 Gene

Genomics for HBE1 Gene

Regulatory Elements for HBE1 Gene

Promoters for HBE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HBE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HBE1 Gene

Chromosome:
11
Start:
5,268,345 bp from pter
End:
5,505,617 bp from pter
Size:
237,273 bases
Orientation:
Minus strand

Genomic View for HBE1 Gene

Genes around HBE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBE1 Gene

Proteins for HBE1 Gene

  • Protein details for HBE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02100-HBE_HUMAN
    Recommended name:
    Hemoglobin subunit epsilon
    Protein Accession:
    P02100
    Secondary Accessions:
    • Q6FH44

    Protein attributes for HBE1 Gene

    Size:
    147 amino acids
    Molecular mass:
    16203 Da
    Quaternary structure:
    • Heterotetramer of two alpha chains and two epsilon chains in early embryonic hemoglobin Gower-2; two zeta chains and two epsilon chains in early embryonic hemoglobin Gower-1.

    Three dimensional structures from OCA and Proteopedia for HBE1 Gene

neXtProt entry for HBE1 Gene

Proteomics data for HBE1 Gene at MOPED

Post-translational modifications for HBE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HBE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBE1 Gene

Domains & Families for HBE1 Gene

Gene Families for HBE1 Gene

Protein Domains for HBE1 Gene

Suggested Antigen Peptide Sequences for HBE1 Gene

Graphical View of Domain Structure for InterPro Entry

P02100

UniProtKB/Swiss-Prot:

HBE_HUMAN :
  • Belongs to the globin family.
Family:
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBE1: view

Function for HBE1 Gene

Molecular function for HBE1 Gene

GENATLAS Biochemistry:
hemoglobin,epsilon 1,embryonic
UniProtKB/Swiss-Prot Function:
The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.

Gene Ontology (GO) - Molecular Function for HBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen transporter activity IEA --
GO:0019825 oxygen binding IEA --
GO:0031721 hemoglobin alpha binding IEA --
genes like me logo Genes that share ontologies with HBE1: view
genes like me logo Genes that share phenotypes with HBE1: view

Animal Models for HBE1 Gene

MGI Knock Outs for HBE1:

Animal Model Products

miRNA for HBE1 Gene

miRTarBase miRNAs that target HBE1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HBE1 Gene

Localization for HBE1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HBE1 Gene COMPARTMENTS Subcellular localization image for HBE1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HBE1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBE1 Gene

Pathways & Interactions for HBE1 Gene

genes like me logo Genes that share pathways with HBE1: view

Pathways by source for HBE1 Gene

Gene Ontology (GO) - Biological Process for HBE1 Gene

None

No data available for SIGNOR curated interactions for HBE1 Gene

Drugs & Compounds for HBE1 Gene

(2) Drugs for HBE1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with HBE1: view

Transcripts for HBE1 Gene

mRNA/cDNA for HBE1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HBE1 Gene

Hemoglobin, epsilon 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HBE1 Gene

No ASD Table

Relevant External Links for HBE1 Gene

GeneLoc Exon Structure for
HBE1
ECgene alternative splicing isoforms for
HBE1

Expression for HBE1 Gene

mRNA expression in normal human tissues for HBE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBE1 Gene

This gene is overexpressed in Whole Blood (x13.5).

Protein differential expression in normal tissues from HIPED for HBE1 Gene

This gene is overexpressed in Brain (37.7) and Urine (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HBE1 Gene



SOURCE GeneReport for Unigene cluster for HBE1 Gene Hs.655195

mRNA Expression by UniProt/SwissProt for HBE1 Gene

P02100-HBE_HUMAN
Tissue specificity: Red blood cells.
genes like me logo Genes that share expression patterns with HBE1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for HBE1 Gene

Orthologs for HBE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HBE4 35
  • 78.91 (n)
  • 77.55 (a)
-- 36
  • 90 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC485255 35
  • 82.77 (n)
  • 82.31 (a)
mouse
(Mus musculus)
Mammalia Hbb-bh1 35
  • 79.82 (n)
  • 77.55 (a)
Hbb-bh1 16
Hbb-y 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HBE1 35
  • 100 (n)
  • 100 (a)
HBE1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hbg1 35
  • 79.14 (n)
  • 76.19 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 82 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves HBG2 35
  • 75.96 (n)
  • 74.83 (a)
HBB 36
  • 75 (a)
ManyToMany
HBE 36
  • 72 (a)
ManyToMany
HBE1 36
  • 71 (a)
ManyToMany
HBG1 36
  • 74 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii -- 35
zgc:92880 35
  • 62.79 (n)
  • 54.79 (a)
ba1 36
  • 53 (a)
ManyToMany
ba1l 36
  • 53 (a)
ManyToMany
hbaa1 36
  • 41 (a)
ManyToMany
hbaa1 36
  • 41 (a)
ManyToMany
hbae1 36
  • 41 (a)
ManyToMany
hbae1 36
  • 37 (a)
ManyToMany
hbae3 36
  • 39 (a)
ManyToMany
hbbe1.1 36
  • 52 (a)
ManyToMany
hbbe1.2 36
  • 52 (a)
ManyToMany
hbbe2 36
  • 54 (a)
ManyToMany
hbbe3 36
  • 53 (a)
ManyToMany
hbz 36
  • 41 (a)
ManyToMany
si:ch211-5k11.12 36
  • 52 (a)
ManyToMany
si:ch211-5k11.2 36
  • 41 (a)
ManyToMany
si:ch211-5k11.6 36
  • 41 (a)
ManyToMany
zgc:92880 36
  • 54 (a)
ManyToMany
Species with no ortholog for HBE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBE1 Gene

ENSEMBL:
Gene Tree for HBE1 (if available)
TreeFam:
Gene Tree for HBE1 (if available)

Paralogs for HBE1 Gene

Paralogs for HBE1 Gene

(12) SIMAP similar genes for HBE1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HBE1: view

Variants for HBE1 Gene

Sequence variations from dbSNP and Humsavar for HBE1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1304564 -- 5,275,194(-) GACAT(A/G)AGATT intron-variant
rs2156918 -- 5,275,662(-) GCTTG(C/G/T)GGTTG intron-variant
rs2213165 -- 5,268,447(+) CAGGT(C/G)TTCCT utr-variant-3-prime
rs2213169 -- 5,281,833(-) ATTGC(A/C/T)TTAAT intron-variant
rs2213170 -- 5,281,803(-) ACTCA(C/T)TGCAG intron-variant

Variation tolerance for HBE1 Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HBE1 Gene

HapMap Linkage Disequilibrium report
HBE1
Human Gene Mutation Database (HGMD)
HBE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HBE1 Gene

Disorders for HBE1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HBE1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hemoglobin e disease
  • hb-e disease
hemoglobin c disease
  • hb-c disease
thalassemia
  • sickle-cell thalassemia with crisis
pneumatosis cystoides intestinalis
thalassemias, alpha-
  • thalassemia, alpha-
- elite association - COSMIC cancer census association via MalaCards
Search HBE1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HBE1

Genetic Association Database (GAD)
HBE1
Human Genome Epidemiology (HuGE) Navigator
HBE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HBE1
genes like me logo Genes that share disorders with HBE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HBE1 Gene

Publications for HBE1 Gene

  1. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 48 67
  2. Linear distance from the locus control region determines epsilon-globin transcriptional activity. (PMID: 17548470) Shimotsuma M. … Tanimoto K. (Mol. Cell. Biol. 2007) 3 23
  3. Investigations of a human embryonic globin gene silencing element using YAC transgenic mice. (PMID: 16514181) Navas P.A. … Stamatoyannopoulos G. (Exp. Biol. Med. (Maywood) 2006) 3 23
  4. Genomic and phylogenetic footprinting at the epsilon-globin silencer region in intact human cells. (PMID: 15157738) Temple M.D. … Murray V. (Biochim. Biophys. Acta 2004) 3 23
  5. Embryonic hemoglobins are expressed in definitive cells. (PMID: 10381533) Luo H.Y. … Alter B.P. (Blood 1999) 3 23

Products for HBE1 Gene

Sources for HBE1 Gene

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