LOCUS       NM_000558                577 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens hemoglobin subunit alpha 1 (HBA1), mRNA.
ACCESSION   NM_000558
VERSION     NM_000558.5
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 577)
  AUTHORS   Panyasai,S., Chantanaskulwong,P., Permsripong,N. and Mokmued,T.
  TITLE     Interactions of electrophoretically silent hemoglobin Hekinan II
            [HBA1:c.84G>T] with various forms of alpha-thalassemias and other
            hemoglobinopathies: novel insights into the molecular and
            hematological characteristics and genetic origins
  JOURNAL   Libyan J Med 19 (1), 2406620 (2024)
   PUBMED   39312720
  REMARK    GeneRIF: Interactions of electrophoretically silent hemoglobin
            Hekinan II [HBA1:c.84G>T] with various forms of alpha-thalassemias
            and other hemoglobinopathies: novel insights into the molecular and
            hematological characteristics and genetic origins.
REFERENCE   2  (bases 1 to 577)
  AUTHORS   Vousvouki,M., Delaki,E.E., Boutou,E., Yfanti,E., Mantzou,G.,
            Karipidou,C., Vyzantiadis,A., Efstathiou,A., Dimopoulou,M.,
            Vlachaki,E. and Theodoridou,S.
  TITLE     A New alpha1-Globin Variant, Hb Ormylia [HBA1:c.63C > G;
            p.His21Gln]. Report of Eleven Cases in Northern Greece
  JOURNAL   Hemoglobin 48 (2), 133-137 (2024)
   PUBMED   38632978
  REMARK    GeneRIF: A New alpha1-Globin Variant, Hb Ormylia [HBA1:c.63C > G;
            p.His21Gln]. Report of Eleven Cases in Northern Greece.
REFERENCE   3  (bases 1 to 577)
  AUTHORS   Zhang,W., Han,X., Deng,J., Zhou,R., Du,X., Wu,C. and Li,M.
  TITLE     Two Novel alpha-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD
            109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A
            Case Report
  JOURNAL   Hemoglobin 47 (4), 172-179 (2023)
   PUBMED   37818638
  REMARK    GeneRIF: Two Novel alpha-Thalassemia Mutations CD 39 -C [Thr > Pro]
            and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese
            Families: A Case Report.
REFERENCE   4  (bases 1 to 577)
  AUTHORS   Trepte,P., Secker,C., Kostova,S., Maseko,S.B., Choi,S.G.,
            Blavier,J., Minia,I., Ramos,E.S., Cassonnet,P., Golusik,S.,
            Zenkner,M., Beetz,S., Liebich,M.J., Scharek,N., Schutz,A.,
            Sperling,M., Lisurek,M., Wang,Y., Spirohn,K., Hao,T.,
            Calderwood,M.A., Hill,D.E., Landthaler,M., Olivet,J., Twizere,J.C.,
            Vidal,M. and Wanker,E.E.
  TITLE     AI-guided pipeline for protein-protein interaction drug discovery
            identifies a SARS-CoV-2 inhibitor
  JOURNAL   bioRxiv (2023)
   PUBMED   37398436
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 577)
  AUTHORS   Ghassemifar,R., Forster,L., Qadah,T. and Finlayson,J.
  TITLE     Identification and characterization of two novel and differentially
            expressed isoforms of human alpha2- and alpha1-globin genes
  JOURNAL   Hemoglobin 36 (5), 421-432 (2012)
   PUBMED   22738435
  REMARK    GeneRIF: This study, for the first time, confirms the presence of
            two isoforms for both the alpha2- and alpha1-globin genes with
            varying transcription levels in healthy individuals.
REFERENCE   6  (bases 1 to 577)
  AUTHORS   Tamary,H. and Dgany,O.
  TITLE     Alpha-Thalassemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301608
REFERENCE   7  (bases 1 to 577)
  AUTHORS   Knuth,A., Pribilla,W., Marti,H.R. and Winterhalter,K.H.
  TITLE     Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable
            abnormal hemoglobin
  JOURNAL   Acta Haematol 61 (3), 121-124 (1979)
   PUBMED   108887
REFERENCE   8  (bases 1 to 577)
  AUTHORS   Moo-Penn,W.F., Jue,D.L. and Baine,R.M.
  TITLE     Hemoglobin J Rovigo (alpha53 Ala replaced by Asp) in association
            with beta-thalassemia
  JOURNAL   Hemoglobin 2 (5), 443-445 (1978)
   PUBMED   31339
REFERENCE   9  (bases 1 to 577)
  AUTHORS   Chang,J.C., Temple,G.F., Poon,R., Neumann,K.H. and Kan,Y.W.
  TITLE     The nucleotide sequences of the untranslated 5' regions of human
            alpha- and beta-globin mRNAs
  JOURNAL   Proc Natl Acad Sci U S A 74 (11), 5145-5149 (1977)
   PUBMED   270752
REFERENCE   10 (bases 1 to 577)
  AUTHORS   Cohen-Solal,M., Manesse,B., Thillet,J. and Rosa,J.
  TITLE     Haemoglobin G Norfolk alpha 85 (F6) Asp leads to Asn. Structural
            characterization by sequenator analysis and functional properties
            of a new variant with high oxygen affinity
  JOURNAL   FEBS Lett 50 (2), 163-167 (1975)
   PUBMED   234399
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005931.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 3, 2018 this sequence version replaced NM_000558.4.
            
            Summary: The human alpha globin gene cluster located on chromosome
            16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta
            - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2
            (HBA2) and alpha-1 (HBA1) coding sequences are identical. These
            genes differ slightly over the 5' untranslated regions and the
            introns, but they differ significantly over the 3' untranslated
            regions. Two alpha chains plus two beta chains constitute HbA,
            which in normal adult life comprises about 97% of the total
            hemoglobin; alpha chains combine with delta chains to constitute
            HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3%
            of adult hemoglobin. Alpha thalassemias result from deletions of
            each of the alpha genes as well as deletions of both HBA2 and HBA1;
            some nondeletion alpha thalassemias have also been reported.
            [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 :: BC005931.1, AK223392.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320868.9/ ENSP00000322421.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-577               BC005931.1         1-577
FEATURES             Location/Qualifiers
     source          1..577
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..577
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="hemoglobin subunit alpha 1"
                     /db_xref="GeneID:3039"
                     /db_xref="HGNC:HGNC:4823"
                     /db_xref="MIM:141800"
     exon            1..132
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..466
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="alpha one globin; hemoglobin alpha 1 globin chain;
                     delta globin; alpha-2 globin chain; hemoglobin, alpha 1;
                     alpha globin chain"
                     /codon_start=1
                     /product="hemoglobin subunit alpha"
                     /protein_id="NP_000549.1"
                     /db_xref="CCDS:CCDS10399.1"
                     /db_xref="GeneID:3039"
                     /db_xref="HGNC:HGNC:4823"
                     /db_xref="MIM:141800"
                     /translation="MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYF
                     PHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLL
                     SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR"
     exon            133..337
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /inference="alignment:Splign:2.1.0"
     exon            338..577
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      556..561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="hexamer: AATAAA"
     polyA_site      577
                     /gene="HBA1"
                     /gene_synonym="ECYT7; HBA-T3; HBH; METHBA"
                     /note="major polyA site"
ORIGIN      
        1 actcttctgg tccccacaga ctcagagaga acccaccatg gtgctgtctc ctgccgacaa
       61 gaccaacgtc aaggccgcct ggggtaaggt cggcgcgcac gctggcgagt atggtgcgga
      121 ggccctggag aggatgttcc tgtccttccc caccaccaag acctacttcc cgcacttcga
      181 cctgagccac ggctctgccc aggttaaggg ccacggcaag aaggtggccg acgcgctgac
      241 caacgccgtg gcgcacgtgg acgacatgcc caacgcgctg tccgccctga gcgacctgca
      301 cgcgcacaag cttcgggtgg acccggtcaa cttcaagctc ctaagccact gcctgctggt
      361 gaccctggcc gcccacctcc ccgccgagtt cacccctgcg gtgcacgcct ccctggacaa
      421 gttcctggct tctgtgagca ccgtgctgac ctccaaatac cgttaagctg gagcctcggt
      481 ggccatgctt cttgcccctt gggcctcccc ccagcccctc ctccccttcc tgcacccgta
      541 cccccgtggt ctttgaataa agtctgagtg ggcggca
//
