Homo sapiens Gene: HBE1
Summary
InnateDB Gene IDBG-236544.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HBE1
Gene Name hemoglobin, epsilon 1
Synonyms HBE;
Species Homo sapiens
Ensembl Gene ENSG00000213931
Encoded Proteins
hemoglobin, epsilon 1
hemoglobin, epsilon 1
hemoglobin, epsilon 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:5268345-5505617
Strand Reverse strand
Band p15.4
Transcripts
ENST00000380237 ENSP00000369586
ENST00000292896 ENSP00000292896
ENST00000396895 ENSP00000380104
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 4 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005344 oxygen transporter activity
GO:0005506 iron ion binding
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0031721 hemoglobin alpha binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0007596 blood coagulation
GO:0015671 oxygen transport
GO:0051291 protein heterooligomerization
Cellular Component
GO:0005829 cytosol
GO:0005833 hemoglobin complex
GO:0072562 blood microparticle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Factors involved in megakaryocyte development and platelet production pathway
Hemostasis pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL A8MUF7
UniProt Splice Variant
Entrez Gene 3046
UniGene Hs.655195
RefSeq NM_005330
HUGO HGNC:4830
OMIM 142100
CCDS CCDS7756
HPRD 00788
IMGT
EMBL AC087380 AC104389
GenPept
RNA Seq Atlas 3046