Human Gene HBE1 (ENST00000380237.5) from GENCODE V44
  Description: The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin. (from UniProt P02100)
RefSeq Summary (NM_005330): 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].
Gencode Transcript: ENST00000380237.5
Gencode Gene: ENSG00000213931.7
Transcript (Including UTRs)
   Position: hg38 chr11:5,268,345-5,505,604 Size: 237,260 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr11:5,268,469-5,269,890 Size: 1,422 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:5,268,345-5,505,604)mRNA (may differ from genome)Protein (147 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: HBE_HUMAN
DESCRIPTION: RecName: Full=Hemoglobin subunit epsilon; AltName: Full=Epsilon-globin; AltName: Full=Hemoglobin epsilon chain;
FUNCTION: The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.
SUBUNIT: 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.
TISSUE SPECIFICITY: Red blood cells.
SIMILARITY: Belongs to the globin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HBE1
Diseases sorted by gene-association score: hemoglobin e disease (11), hemoglobin h disease, nondeletional (9), thalassemia (7), hemoglobin c disease (7), thalassemias, alpha- (6), spherocytosis, type 2 (6), ascariasis (5), congenital hypogammaglobulinemia (5), thalassemia, hispanic gamma-delta-beta (5), congenital hemolytic anemia (5), autosomal genetic disease (4), fetal erythroblastosis (4), gastrointestinal system disease (1), autosomal recessive disease (1), hereditary spherocytosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.80 RPKM in Whole Blood
Total median expression: 8.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.70345-0.272 Picture PostScript Text
3' UTR -23.40124-0.189 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000971 - Globin
IPR009050 - Globin-like
IPR012292 - Globin_dom
IPR002337 - Haemoglobin_b

Pfam Domains:
PF00042 - Globin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1A9W - X-ray


ModBase Predicted Comparative 3D Structure on P02100
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005344 oxygen transporter activity
GO:0005515 protein binding
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0031721 hemoglobin alpha binding
GO:0046872 metal ion binding

Biological Process:
GO:0007596 blood coagulation
GO:0014070 response to organic cyclic compound
GO:0015671 oxygen transport
GO:0051291 protein heterooligomerization

Cellular Component:
GO:0005829 cytosol
GO:0005833 hemoglobin complex
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  BC015537 - Homo sapiens hemoglobin, epsilon 1, mRNA (cDNA clone MGC:9582 IMAGE:3884290), complete cds.
BC022184 - Homo sapiens cDNA clone IMAGE:3930644, partial cds.
JD251321 - Sequence 232345 from Patent EP1572962.
KJ891334 - Synthetic construct Homo sapiens clone ccsbBroadEn_00728 HBE1 gene, encodes complete protein.
DQ894618 - Synthetic construct Homo sapiens clone IMAGE:100009078; FLH176973.01L; RZPDo839B08123D hemoglobin, epsilon 1 (HBE1) gene, encodes complete protein.
EU176280 - Synthetic construct Homo sapiens clone IMAGE:100006388; FLH176979.01X; RZPDo839E12250D hemoglobin, epsilon 1 (HBE1) gene, encodes complete protein.
CR541912 - Homo sapiens full open reading frame cDNA clone RZPDo834H0533D for gene HBE1, hemoglobin, epsilon 1; complete cds, without stopcodon.
JD035889 - Sequence 16913 from Patent EP1572962.
JD251431 - Sequence 232455 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P02100 (Reactome details) participates in the following event(s):

R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: BC015537, ENST00000380237.1, ENST00000380237.2, ENST00000380237.3, ENST00000380237.4, HBE, HBE_HUMAN, P02100, Q6FH44, uc001mam.1, uc001mam.2
UCSC ID: ENST00000380237.5
RefSeq Accession: NM_005330
Protein: P02100 (aka HBE_HUMAN)
CCDS: CCDS7756.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.