LOCUS       NM_000518                628 bp    mRNA    linear   PRI 30-DEC-2024
DEFINITION  Homo sapiens hemoglobin subunit beta (HBB), mRNA.
ACCESSION   NM_000518
VERSION     NM_000518.5
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 628)
  AUTHORS   Civettini,I., Zappaterra,A., Corti,P., Messina,A., Aroldi,A.,
            Biondi,A., Cavalca,F., Crippa,V., Crosti,F., Ferrari,G.M.,
            Malighetti,F., Mologni,L., Piperno,A., Ramazzotti,D., Scollo,C.,
            Zambon,A., Rossi,F. and Gambacorti-Passerini,C.
  TITLE     Hb Monza: A novel extensive HBB duplication with preserved
            alpha-beta subunit interaction and unstable hemoglobin phenotype
  JOURNAL   Med (2024) In press
   PUBMED   39701095
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 628)
  AUTHORS   Caria,C.A., Faa,V., Porcu,S., Marongiu,M.F., Poddie,D., Perseu,L.,
            Meloni,A., Vaccargiu,S. and Ristaldi,M.S.
  TITLE     Post-GWAS Validation of Target Genes Associated with HbF and HbA2
            Levels
  JOURNAL   Cells 13 (14), 1185 (2024)
   PUBMED   39056767
  REMARK    GeneRIF: Post-GWAS Validation of Target Genes Associated with HbF
            and HbA2 Levels.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 628)
  AUTHORS   Xu,X., Cai,H., Peng,J., Liu,H. and Chu,F.
  TITLE     HBB as a Novel Biomarker for the Diagnosis and Monitoring of Lung
            Cancer Regulates Cell Proliferation via ERK1/2 Pathway
  JOURNAL   Technol Cancer Res Treat 23, 15330338241249032 (2024)
   PUBMED   38679728
  REMARK    GeneRIF: HBB as a Novel Biomarker for the Diagnosis and Monitoring
            of Lung Cancer Regulates Cell Proliferation via ERK1/2 Pathway.
REFERENCE   4  (bases 1 to 628)
  AUTHORS   Waye,J.S., Hanna,M., Hohenadel,B.A., Nakamura,L., Walker,L., Eng,B.
            and Nfonsam,L.E.
  TITLE     beta0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A >
            T]
  JOURNAL   Hemoglobin 48 (1), 69-70 (2024)
   PUBMED   38425097
  REMARK    GeneRIF: beta[0]-Thalassemia Caused by a Novel Nonsense Mutation
            [HBB:c.199A > T].
REFERENCE   5  (bases 1 to 628)
  AUTHORS   Calvo,S.E., Pagliarini,D.J. and Mootha,V.K.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a disease-related upstream ORF in
            this gene, and shows that it functions to reduce protein levels by
            ~70%.
REFERENCE   6  (bases 1 to 628)
  AUTHORS   Langer,A.L.
  TITLE     Beta-Thalassemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301599
REFERENCE   7  (bases 1 to 628)
  AUTHORS   Bender,M.A. and Carlberg,K.
  TITLE     Sickle Cell Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301551
REFERENCE   8  (bases 1 to 628)
  AUTHORS   Adams,J.G., Steinberg,M.H., Boxer,L.A., Baehner,R.L., Forget,B.G.
            and Tsistrakis,G.A.
  TITLE     The structure of hemoglobin Indianapolis [beta112(G14) arginine].
            An unstable variant detectable only by isotopic labeling
  JOURNAL   J Biol Chem 254 (9), 3479-3482 (1979)
   PUBMED   429365
REFERENCE   9  (bases 1 to 628)
  AUTHORS   Marotta,C.A., Wilson,J.T., Forget,B.G. and Weissman,S.M.
  TITLE     Human beta-globin messenger RNA. III. Nucleotide sequences derived
            from complementary DNA
  JOURNAL   J Biol Chem 252 (14), 5040-5053 (1977)
   PUBMED   68958
REFERENCE   10 (bases 1 to 628)
  AUTHORS   Proudfoot,N.J.
  TITLE     Complete 3' noncoding region sequences of rabbit and human
            beta-globin messenger RNAs
  JOURNAL   Cell 10 (4), 559-570 (1977)
   PUBMED   67897
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK311825.1 and BU661647.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 13, 2018 this sequence version replaced NM_000518.4.
            
            Summary: The alpha (HBA) and beta (HBB) loci determine the
            structure of the 2 types of polypeptide chains in adult hemoglobin,
            Hb A. The normal adult hemoglobin tetramer consists of two alpha
            chains and two beta chains. Mutant beta globin causes sickle cell
            anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced
            amounts of detectable beta globin causes beta-plus-thalassemia. 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 :: BU662061.1, BU661647.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335295.4/ ENSP00000333994.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-494               AK311825.1         1-494
            495-628             BU661647.1         507-640
FEATURES             Location/Qualifiers
     source          1..628
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..628
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="hemoglobin subunit beta"
                     /db_xref="GeneID:3043"
                     /db_xref="HGNC:HGNC:4827"
                     /db_xref="MIM:141900"
     exon            1..142
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /inference="alignment:Splign:2.1.0"
     exon            143..365
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /inference="alignment:Splign:2.1.0"
     exon            366..628
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      602..607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="hexamer: AATAAA"
     polyA_site      628
                     /gene="HBB"
                     /gene_synonym="beta-globin; CD113t-C; ECYT6"
                     /note="major polyA site"
ORIGIN      
        1 acatttgctt ctgacacaac tgtgttcact agcaacctca aacagacacc atggtgcatc
       61 tgactcctga ggagaagtct gccgttactg ccctgtgggg caaggtgaac gtggatgaag
      121 ttggtggtga ggccctgggc aggctgctgg tggtctaccc ttggacccag aggttctttg
      181 agtcctttgg ggatctgtcc actcctgatg ctgttatggg caaccctaag gtgaaggctc
      241 atggcaagaa agtgctcggt gcctttagtg atggcctggc tcacctggac aacctcaagg
      301 gcacctttgc cacactgagt gagctgcact gtgacaagct gcacgtggat cctgagaact
      361 tcaggctcct gggcaacgtg ctggtctgtg tgctggccca tcactttggc aaagaattca
      421 ccccaccagt gcaggctgcc tatcagaaag tggtggctgg tgtggctaat gccctggccc
      481 acaagtatca ctaagctcgc tttcttgctg tccaatttct attaaaggtt cctttgttcc
      541 ctaagtccaa ctactaaact gggggatatt atgaagggcc ttgagcatct ggattctgcc
      601 taataaaaaa catttatttt cattgcaa
//
