LOCUS       NM_005330                623 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens hemoglobin subunit epsilon 1 (HBE1), mRNA.
ACCESSION   NM_005330
VERSION     NM_005330.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 623)
  AUTHORS   Ejaz,S., Mustafa,G., Khaliq,S. and Mohsin,S.
  TITLE     Molecular Characterization of Haemoglobin E
  JOURNAL   J Pak Med Assoc 73 (12), 2357-2362 (2023)
   PUBMED   38083912
  REMARK    GeneRIF: Molecular Characterization of Haemoglobin E.
REFERENCE   2  (bases 1 to 623)
  AUTHORS   Phasit,A., Panyasai,S., Mayoon,M., Jettawan,N. and Satthakarn,S.
  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
  JOURNAL   Genes (Basel) 13 (6), 959 (2022)
   PUBMED   35741722
  REMARK    GeneRIF: Phenotypic Expression of Known and Novel Hemoglobin
            A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp &gt; Gly,
            HBD:c.158A &gt; G], Associated with Hemoglobin E [Beta 26(B8) Glu
            &gt; Lys, HBB:c.79G &gt; A] in Thailand.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 623)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 623)
  AUTHORS   Das,S.S., Das,S., Byram,P.K., Rahaman,M., Dolai,T.K., Chatterjee,A.
            and Chakravorty,N.
  TITLE     MicroRNA expression patterns in HbE/beta-thalassemia patients: The
            passwords to unlock fetal hemoglobin expression in
            beta-hemoglobinopathies
  JOURNAL   Blood Cells Mol Dis 87, 102523 (2021)
   PUBMED   33242839
  REMARK    GeneRIF: MicroRNA expression patterns in HbE/beta-thalassemia
            patients: The passwords to unlock fetal hemoglobin expression in
            beta-hemoglobinopathies.
REFERENCE   5  (bases 1 to 623)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 623)
  AUTHORS   Higgs,D.R., Vickers,M.A., Wilkie,A.O., Pretorius,I.M., Jarman,A.P.
            and Weatherall,D.J.
  TITLE     A review of the molecular genetics of the human alpha-globin gene
            cluster
  JOURNAL   Blood 73 (5), 1081-1104 (1989)
   PUBMED   2649166
  REMARK    Review article
REFERENCE   7  (bases 1 to 623)
  AUTHORS   Ley,T.J., Maloney,K.A., Gordon,J.I. and Schwartz,A.L.
  TITLE     Globin gene expression in erythroid human fetal liver cells
  JOURNAL   J Clin Invest 83 (3), 1032-1038 (1989)
   PUBMED   2921315
REFERENCE   8  (bases 1 to 623)
  AUTHORS   Chabot,B., Black,D.L., LeMaster,D.M. and Steitz,J.A.
  TITLE     The 3' splice site of pre-messenger RNA is recognized by a small
            nuclear ribonucleoprotein
  JOURNAL   Science 230 (4732), 1344-1349 (1985)
   PUBMED   2933810
REFERENCE   9  (bases 1 to 623)
  AUTHORS   Proudfoot,N.J. and Baralle,F.E.
  TITLE     Molecular cloning of human epsilon-globin gene
  JOURNAL   Proc Natl Acad Sci U S A 76 (11), 5435-5439 (1979)
   PUBMED   160554
REFERENCE   10 (bases 1 to 623)
  AUTHORS   Marotta,C.A., Forget,B.G., Cohne-Solal,M., Wilson,J.T. and
            Weissman,S.M.
  TITLE     Human beta-globin messenger RNA. I. Nucleotide sequences derived
            from complementary RNA
  JOURNAL   J Biol Chem 252 (14), 5019-5031 (1977)
   PUBMED   873928
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104389.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_005330.3.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.5364.1, BG496579.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN03267750,
                                           SAMN03267752 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396895.3/ ENSP00000380104.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-147               AC104389.8         72139-72285         c
            148-370             AC104389.8         71794-72016         c
            371-623             AC104389.8         70685-70937         c
FEATURES             Location/Qualifiers
     source          1..623
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..623
                     /gene="HBE1"
                     /gene_synonym="HBE"
                     /note="hemoglobin subunit epsilon 1"
                     /db_xref="GeneID:3046"
                     /db_xref="HGNC:HGNC:4830"
                     /db_xref="MIM:142100"
     exon            1..147
                     /gene="HBE1"
                     /gene_synonym="HBE"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..499
                     /gene="HBE1"
                     /gene_synonym="HBE"
                     /note="epsilon globin; hemoglobin epsilon chain;
                     hemoglobin, epsilon 1"
                     /codon_start=1
                     /product="hemoglobin subunit epsilon"
                     /protein_id="NP_005321.1"
                     /db_xref="CCDS:CCDS7756.1"
                     /db_xref="GeneID:3046"
                     /db_xref="HGNC:HGNC:4830"
                     /db_xref="MIM:142100"
                     /translation="MVHFTAEEKAAVTSLWSKMNVEEAGGEALGRLLVVYPWTQRFFD
                     SFGNLSSPSAILGNPKVKAHGKKVLTSFGDAIKNMDNLKPAFAKLSELHCDKLHVDPE
                     NFKLLGNVMVIILATHFGKEFTPEVQAAWQKLVSAVAIALAHKYH"
     exon            148..370
                     /gene="HBE1"
                     /gene_synonym="HBE"
                     /inference="alignment:Splign:2.1.0"
     exon            371..623
                     /gene="HBE1"
                     /gene_synonym="HBE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      593..598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBE1"
                     /gene_synonym="HBE"
                     /note="hexamer: AATAAA"
     polyA_site      623
                     /gene="HBE1"
                     /gene_synonym="HBE"
                     /note="major polyA site"
ORIGIN      
        1 acatatctgc ttccgacaca gctgcaatca ctagcaagct ctcaggcctg gcatcatggt
       61 gcattttact gctgaggaga aggctgccgt cactagcctg tggagcaaga tgaatgtgga
      121 agaggctgga ggtgaagcct tgggcagact cctcgttgtt tacccctgga cccagagatt
      181 ttttgacagc tttggaaacc tgtcgtctcc ctctgccatc ctgggcaacc ccaaggtcaa
      241 ggcccatggc aagaaggtgc tgacttcctt tggagatgct attaaaaaca tggacaacct
      301 caagcccgcc tttgctaagc tgagtgagct gcactgtgac aagctgcatg tggatcctga
      361 gaacttcaag ctcctgggta acgtgatggt gattattctg gctactcact ttggcaagga
      421 gttcacccct gaagtgcagg ctgcctggca gaagctggtg tctgctgtcg ccattgccct
      481 ggcccataag taccactgag ttctcttcca gtttgcaggt gttcctgtga ccctgacacc
      541 ctccttctgc acatggggac tgggcttggc cttgagagaa agccttctgt ttaataaagt
      601 acattttctt cagtaatcaa aaa
//
