LOCUS       NM_000559                587 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens hemoglobin subunit gamma 1 (HBG1), mRNA.
ACCESSION   NM_000559
VERSION     NM_000559.3
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 587)
  AUTHORS   Bao,X., Gao,Y., Wang,Z., Ye,Y., Chen,D., Zuo,Y., Zhao,C. and Xu,X.
  TITLE     Activation of gamma-globin expression by LncRNA-mediated ERF
            promoter hypermethylation in beta-thalassemia
  JOURNAL   Clin Epigenetics 16 (1), 12 (2024)
   PUBMED   38218889
  REMARK    GeneRIF: Activation of gamma-globin expression by LncRNA-mediated
            ERF promoter hypermethylation in beta-thalassemia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 587)
  AUTHORS   Wang,X., Meng,X., Meng,L., Guo,Y., Li,Y., Yang,C., Pei,Z., Li,J.
            and Wang,F.
  TITLE     Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for
            atrial fibrillation and stroke: Analysis via the support vector
            machine neural network
  JOURNAL   J Cell Mol Med 26 (7), 2010-2022 (2022)
   PUBMED   35138035
  REMARK    GeneRIF: Joint efficacy of the three biomarkers SNCA, GYPB and HBG1
            for atrial fibrillation and stroke: Analysis via the support vector
            machine neural network.
REFERENCE   3  (bases 1 to 587)
  AUTHORS   Lin,J., Ye,Y., Shang,X., Zhang,Y., Wei,X. and Xu,X.
  TITLE     TEA domain transcription factor 4 modulates repression of fetal
            haemoglobin by direct binding to the gamma-globin gene promoters
  JOURNAL   Br J Haematol 195 (5), 764-769 (2021)
   PUBMED   34569056
  REMARK    GeneRIF: TEA domain transcription factor 4 modulates repression of
            fetal haemoglobin by direct binding to the gamma-globin gene
            promoters.
REFERENCE   4  (bases 1 to 587)
  AUTHORS   Eernstman,J., Veldhuisen,B., Ligthart,P., von Lindern,M., van der
            Schoot,C.E. and van den Akker,E.
  TITLE     Novel variants in Krueppel like factor 1 that cause persistence of
            fetal hemoglobin in In(Lu) individuals
  JOURNAL   Sci Rep 11 (1), 18557 (2021)
   PUBMED   34535703
  REMARK    GeneRIF: Novel variants in Krueppel like factor 1 that cause
            persistence of fetal hemoglobin in In(Lu) individuals.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 587)
  AUTHORS   Ghosh,D., Panja,A., Saha,D., Banerjee,U., Datta,A.K. and Basu,A.
  TITLE     Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free
            Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI
            Polymorphism
  JOURNAL   Genet Test Mol Biomarkers 25 (8), 563-570 (2021)
   PUBMED   34406845
  REMARK    GeneRIF: Drug Repurposing: Hydroxyurea Therapy Improves the
            Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients
            with the XmnI Polymorphism.
REFERENCE   6  (bases 1 to 587)
  AUTHORS   Saglio,G., Ricco,G., Mazza,U., Camaschella,C., Pich,P.G.,
            Gianni,A.M., Gianazza,E., Righetti,P.G., Giglioni,B., Comi,P.,
            Gusmeroli,M. and Ottolenghi,S.
  TITLE     Human T gamma globin chain is a variant of A gamma chain (A gamma
            Sardinia)
  JOURNAL   Proc Natl Acad Sci U S A 76 (7), 3420-3424 (1979)
   PUBMED   291015
REFERENCE   7  (bases 1 to 587)
  AUTHORS   Poon,R., Kan,Y.W. and Boyer,H.W.
  TITLE     Sequence of the 3'-noncoding and adjacent coding regions of human
            gamma-globin mRNA
  JOURNAL   Nucleic Acids Res 5 (12), 4625-4630 (1978)
   PUBMED   318163
REFERENCE   8  (bases 1 to 587)
  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
REFERENCE   9  (bases 1 to 587)
  AUTHORS   Frier,J.A. and Perutz,M.F.
  TITLE     Structure of human foetal deoxyhaemoglobin
  JOURNAL   J Mol Biol 112 (1), 97-112 (1977)
   PUBMED   881729
REFERENCE   10 (bases 1 to 587)
  AUTHORS   Grifoni,V., Kamuzora,H., Lehmann,H. and Charlesworth,D.
  TITLE     A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to
            threonine found in a family with Hb G Philadelphia, beta-chain
            deficiency and a Lepore-like haemoglobin indistinguishable from Hb
            A2
  JOURNAL   Acta Haematol 53 (6), 347-355 (1975)
   PUBMED   808940
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104389.8.
            
            On Dec 4, 2019 this sequence version replaced NM_000559.2.
            
            Summary: The gamma globin genes (HBG1 and HBG2) are normally
            expressed in the fetal liver, spleen and bone marrow. Two gamma
            chains together with two alpha chains constitute fetal hemoglobin
            (HbF) which is normally replaced by adult hemoglobin (HbA) at
            birth. In some beta-thalassemias and related conditions, gamma
            chain production continues into adulthood. The two types of gamma
            chains differ at residue 136 where glycine is found in the G-gamma
            product (HBG2) and alanine is found in the A-gamma product (HBG1).
            The former is predominant at birth. The order of the genes in the
            beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- 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 :: BC020719.1, CD238302.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2149398
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330597.5/ ENSP00000327431.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               AC104389.8         52053-52197         c
            146-368             AC104389.8         51708-51930         c
            369-587             AC104389.8         50609-50827         c
FEATURES             Location/Qualifiers
     source          1..587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..587
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="hemoglobin subunit gamma 1"
                     /db_xref="GeneID:3047"
                     /db_xref="HGNC:HGNC:4831"
                     /db_xref="MIM:142200"
     exon            1..145
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..497
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="hemoglobin gamma-a chain; hemoglobin, gamma,
                     regulator of; gamma globin; gamma A hemoglobin; A-gamma
                     globin; hb F Agamma; gamma-1-globin; hemoglobin gamma-1
                     chain; hemoglobin, gamma A; fetal hemoglobin F subunit
                     gamma 1"
                     /codon_start=1
                     /product="hemoglobin subunit gamma-1"
                     /protein_id="NP_000550.2"
                     /db_xref="CCDS:CCDS7754.1"
                     /db_xref="GeneID:3047"
                     /db_xref="HGNC:HGNC:4831"
                     /db_xref="MIM:142200"
                     /translation="MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFD
                     SFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPE
                     NFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH"
     exon            146..368
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /inference="alignment:Splign:2.1.0"
     exon            369..587
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /inference="alignment:Splign:2.1.0"
     regulatory      558..563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="hexamer: AATAAA"
     polyA_site      587
                     /gene="HBG1"
                     /gene_synonym="HBG-T2; HBGA; HBGR; HSGGL1; PRO2979"
                     /note="major polyA site"
ORIGIN      
        1 acactcgctt ctggaacgtc tgaggttatc aataagctcc tagtccagac gccatgggtc
       61 atttcacaga ggaggacaag gctactatca caagcctgtg gggcaaggtg aatgtggaag
      121 atgctggagg agaaaccctg ggaaggctcc tggttgtcta cccatggacc cagaggttct
      181 ttgacagctt tggcaacctg tcctctgcct ctgccatcat gggcaacccc aaagtcaagg
      241 cacatggcaa gaaggtgctg acttccttgg gagatgccac aaagcacctg gatgatctca
      301 agggcacctt tgcccagctg agtgaactgc actgtgacaa gctgcatgtg gatcctgaga
      361 acttcaagct cctgggaaat gtgctggtga ccgttttggc aatccatttc ggcaaagaat
      421 tcacccctga ggtgcaggct tcctggcaga agatggtgac tgcagtggcc agtgccctgt
      481 cctccagata ccactgagct cactgcccat gattcagagc tttcaaggat aggctttatt
      541 ctgcaagcaa tacaaataat aaatctattc tgctgagaga tcacaca
//
