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HBE1 Gene

protein-coding   GIFtS: 54

GC11M005247
hemoglobin, epsilon 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
Epsilon-globin 3
HBE 1, 2, 3
OTTHUMP00000069642 2
Descriptions
Hemoglobin epsilon chain 3
epsilon globin 2
hemoglobin, epsilon 1 2
External Ids
HGNC: 48301
Entrez Gene: 30462
UniProtKB: P021003
Ensembl: ENSG000002139317
Search outside databases for aliases for HBE1 gene

Previous GC identifers: GC11M006037 GC11M005591 GC11M005249 GC11M005214 GC11M005233

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for HBE1:
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]

UniProtKB/Swiss-Prot: HBE_HUMAN, P02100
Function: The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin

Gene Wiki entry for HBE1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HBE1 gene  

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.5

HBE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005247:     (about GC identifiers)

Start:
5,246,156 bp from pter
End:
5,483,423 bp from pter
Size:
237,268 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000011.8  NT_009237.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: HBE_HUMAN, P02100 (See protein sequence)
Recommended Name: Hemoglobin subunit epsilon  
Size: 147 amino acids; 16203 Da
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
PDB structures from and Proteopedia :
1A9W (3D)    

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_005321.1  

    ENSEMBL proteins: 
    ENSP00000292896 ENSP00000380104 ENSP00000369586 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich Proteins for HBE1  
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse Abcam for Recombinant Proteins
    Human Recombinant Proteins from Abnova (HBE1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005833 hemoglobin complex TAS7555018
    About this table

    Antibodies for HBE1: 
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    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for HBE1

    Assays for HBE1: 
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    Browse Kits and Assays available from Millipore
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR012292 Globin
     IPR000971 Globin_subset
     IPR002337 Haemoglobin_b


       GeneDecks  HBE1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P02100

    ProtoNet protein and cluster: P02100

    1 Blocks protein family: IPB002337 Beta haemoglobin signature

    UniProtKB/Swiss-Prot: HBE_HUMAN, P02100
    Similarity: Belongs to the globin family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HBE1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HBE1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005330

                  Applied Biosystems Silencer® siRNAs for HBE1

                  Sigma-Aldrich siRNA for HBE1  
                         Sigma-Aldrich shRNA for HBE1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for HBE1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005330
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005330
                                     untagged cDNA clone in CMV expression vector: NM_005330 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_005330

    UniProtKB/Swiss-Prot: HBE_HUMAN, P02100
    Function: The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin

    Genatlas biochemistry entry for HBE1:
    hemoglobin,epsilon 1,embryonic

    2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hbb-y):

    no phenotypic analysisnormal

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005344 oxygen transporter activity TAS7555018
    GO:0019825 oxygen binding IEA--
    GO:0020037 heme binding IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for HBE1 (Maps provided by GeneGo):
     Role of AP-1 in regulation of cellular metabolism

       GeneDecks  HBE1 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  HBE1 

      --

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport IEA--
    GO:0015671 oxygen transport IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for HBE1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HBE1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HBE1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005330

                  Sigma-Aldrich siRNA for HBE1  
                         Sigma-Aldrich shRNA for HBE1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_005330  

    REFSEQ mRNAs for HBE1 gene: 

    NM_005330.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_005330  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005330
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005330
                                     untagged cDNA clone in CMV expression vector: NM_005330 

    Additional cDNA sequence: 

    BC015537.2 CR541912.1 

    7 DOTS entries:

    DT.120723442  DT.95262173  DT.95262172  DT.120723319  DT.100806001  DT.309847  DT.95323075 

    4 AceView cDNA sequences:

    NM_005330 CR541912 BC015537 BC022184 

    highest scoring ESTs for HBE1:

    BP432922 BP428807 AA089473 AA092238 BE789678 BF211542 BG220871 BG496579 BP429018 BP430146 

    Unigene Cluster for HBE1:

    Hemoglobin, epsilon 1
    Hs.655195  [show with all ESTs]
    Unigene Representative Sequence: BC015537


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations:
    ENST00000292896  ENST00000396895  ENST00000380237  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    HBE1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HBE1

    1 / 2 / 3

    3 probe-sets matching HBE1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    41617_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AI349593 0.20 0.50 0.38 1

    205919_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005330 0.40 0.67 0.55 1

    205919_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GGGACTGGGC

    SOURCE GeneReport for Unigene cluster: Hs.655195

    Expression variation in blood from EXPOLDB for HBE1

    UniProtKB/Swiss-Prot: HBE_HUMAN, P02100
    Tissue specificity: Red blood cells

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for HBE1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HBE11   -- hemoglobin, epsilon 1 87.3(n)
    87.76(a)
    485256  XM_542374.2  XP_542374.2 
    cow
    (Bos taurus)
    HBE11   -- hemoglobin, epsilon 1 88.89(n)
    89.8(a)
    539994  XM_590745.3  XP_590745.1 
    rat
    (Rattus norvegicus)
    Hbe11   -- hemoglobin, epsilon 1 83.67(n)
    82.31(a)
    293267  NM_001008890.1  NP_001008890.1 
    mouse
    (Mus musculus)
    Hbb-y1, 5 7 (49.95 cM)5
    hemoglobin Y, beta-like embryonic chain1, 5 83.9(n)1
    80.95(a)1
    151351  NM_008221.31  NP_032247.11 
     AK0116195  AK0125015  (see all 19)
    chicken
    (Gallus gallus)
    HBG21   -- hemoglobin, gamma G 75.96(n)
    74.83(a)
    396485  NM_205489.1  NP_990820.1 
    About this table        Species with no ortholog for HBE1

    ENSEMBL Gene Tree for HBE1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for HBE1 gene
    HBB2  HBG22  CYGB2  HBG12  HBD2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/44 NCBI SNPs in HBE1 are shown (see all 44 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 22)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs74796521,2
    A,C,F,H5249689(+) TCTTTT/CAGCTA 1 -- ng313Minor allele frequency- C:0.17EU EA 300
    rs37590711,2
    A,C,F,H5248108(-) AAATGT/CGCTTT 1 -- ng314Minor allele frequency- C:0.45EU EA WA 418
    rs37590701,2
    A,C,F,H5248204(-) AGAGAG/CCTAGA 1 -- ng315Minor allele frequency- C:0.17EA EU WA 1860
    rs37590671,2
    A,C,F5248768(-) AGCATA/GAGCAA 1 -- ng312Minor allele frequency- G:0.26NA 182
    rs118225781,2
    A,C,F5245882(+) TAACAC/GCTCCT 1 -- ng512Minor allele frequency- G:0.17NA 182
    rs37590691,2
    A,C5248406(-) GATTCC/TCTGGA 1 -- ng310--------
    rs22131651,2
    F,H5246253(-) CAGGTG/CTTCCT 1 -- ut317Minor allele frequency- C:0.04EA NA EU WA 478
    --
    rs107687371,2
    A5248448(+) GGACAC/TTGGCT 1 -- ng310--------
    --
    rs341958031,2
    --5245779(+) ATTCT-/CAGCCT 1 -- ng510--------
    --
    rs360090501,2
    --5249042(+) CTTTC-/TTTTTTT 1 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for HBE1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 142100

    1 Novoseek disease relationship for HBE1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 58.99 2 1431310 (2)
    About this table

    Human Gene Mutation Database: HBE1
    Genetic Association Database: HBE1
    Human Genome Epidemiology Navigator: HBE1 (4 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/133 PubMed articles for HBE1 gene (see all 133 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 3046 HGNC: 4830 AceView: HBE1 Ensembl:ENSG00000213931 euGenes: HUgn3046
    ECgene: HBE1 H-InvDB: HBE1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for HBE1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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