LOCUS       NM_005331                528 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens hemoglobin subunit theta 1 (HBQ1), mRNA.
ACCESSION   NM_005331
VERSION     NM_005331.5
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 528)
  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   2  (bases 1 to 528)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 528)
  AUTHORS   Villegas,A., Ropero,P., Anguita,E., Hernandez,A., Polo,M. and
            Ataulfo Gonzalez,F.
  TITLE     [Molecular characterization of two new mutations of alpha degrees
            thalassemia in two Spanish families (mutation --(ED) and --(GP))]
  JOURNAL   Med Clin (Barc) 136 (15), 674-677 (2011)
   PUBMED   21453942
  REMARK    GeneRIF: 2 new Spanish alpha-thalassemia mutations were found. In
            both mutations, both alpha genes were deleted, the gene theta; and
            the region HS40.
REFERENCE   4  (bases 1 to 528)
  AUTHORS   De Gobbi,M., Viprakasit,V., Hughes,J.R., Fisher,C., Buckle,V.J.,
            Ayyub,H., Gibbons,R.J., Vernimmen,D., Yoshinaga,Y., de Jong,P.,
            Cheng,J.F., Rubin,E.M., Wood,W.G., Bowden,D. and Higgs,D.R.
  TITLE     A regulatory SNP causes a human genetic disease by creating a new
            transcriptional promoter
  JOURNAL   Science 312 (5777), 1215-1217 (2006)
   PUBMED   16728641
REFERENCE   5  (bases 1 to 528)
  AUTHORS   Giardina,B., Messana,I., Scatena,R. and Castagnola,M.
  TITLE     The multiple functions of hemoglobin
  JOURNAL   Crit Rev Biochem Mol Biol 30 (3), 165-196 (1995)
   PUBMED   7555018
  REMARK    Review article
REFERENCE   6  (bases 1 to 528)
  AUTHORS   Kim,J.H., Yu,C.Y., Bailey,A., Hardison,R. and Shen,C.K.
  TITLE     Unique sequence organization and erythroid cell-specific nuclear
            factor-binding of mammalian theta 1 globin promoters
  JOURNAL   Nucleic Acids Res 17 (14), 5687-5700 (1989)
   PUBMED   2569721
REFERENCE   7  (bases 1 to 528)
  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   8  (bases 1 to 528)
  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   9  (bases 1 to 528)
  AUTHORS   Gonzalez-Redondo,J.M., Han,I.S., Gu,Y.C. and Huisman,T.H.
  TITLE     Nucleotide sequence of the human theta 1-globin gene
  JOURNAL   Biochem Genet 26 (3-4), 207-211 (1988)
   PUBMED   3408475
REFERENCE   10 (bases 1 to 528)
  AUTHORS   Hsu,S.L., Marks,J., Shaw,J.P., Tam,M., Higgs,D.R., Shen,C.C. and
            Shen,C.K.
  TITLE     Structure and expression of the human theta 1 globin gene
  JOURNAL   Nature 331 (6151), 94-96 (1988)
   PUBMED   3422341
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z84721.1 and BC056686.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005331.4.
            
            Summary: Theta-globin mRNA is found in human fetal erythroid tissue
            but not in adult erythroid or other nonerythroid tissue. The
            theta-1 gene may be expressed very early in embryonic life, perhaps
            sometime before 5 weeks. Theta-1 is a member of the human
            alpha-globin gene cluster that involves five functional genes and
            two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu
            - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'.
            Research supports a transcriptionally active role for the gene and
            a functional role for the peptide in specific cells, possibly those
            of early erythroid tissue. [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 :: BC056686.1, CD580449.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000199708.3/ ENSP00000199708.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 Z84721.1           41322-41330
            10-527              BC056686.1         4-521
            528-528             Z84721.1           42042-42042
FEATURES             Location/Qualifiers
     source          1..528
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..528
                     /gene="HBQ1"
                     /gene_synonym="HBQ"
                     /note="hemoglobin subunit theta 1"
                     /db_xref="GeneID:3049"
                     /db_xref="HGNC:HGNC:4833"
                     /db_xref="MIM:142240"
     exon            1..123
                     /gene="HBQ1"
                     /gene_synonym="HBQ"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..457
                     /gene="HBQ1"
                     /gene_synonym="HBQ"
                     /note="theta-1-globin; hemoglobin theta-1 chain;
                     hemoglobin, theta 1"
                     /codon_start=1
                     /product="hemoglobin subunit theta-1"
                     /protein_id="NP_005322.1"
                     /db_xref="CCDS:CCDS10400.1"
                     /db_xref="GeneID:3049"
                     /db_xref="HGNC:HGNC:4833"
                     /db_xref="MIM:142240"
                     /translation="MALSAEDRALVRALWKKLGSNVGVYTTEALERTFLAFPATKTYF
                     SHLDLSPGSSQVRAHGQKVADALSLAVERLDDLPHALSALSHLHACQLRVDPASFQLL
                     GHCLLVTLARHYPGDFSPALQASLDKFLSHVISALVSEYR"
     exon            124..328
                     /gene="HBQ1"
                     /gene_synonym="HBQ"
                     /inference="alignment:Splign:2.1.0"
     exon            329..528
                     /gene="HBQ1"
                     /gene_synonym="HBQ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      507..512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBQ1"
                     /gene_synonym="HBQ"
                     /note="hexamer: AGTAAA"
     polyA_site      528
                     /gene="HBQ1"
                     /gene_synonym="HBQ"
                     /note="major polyA site"
ORIGIN      
        1 gcagggcgcg gcgggttcca gcgcggggat ggcgctgtcc gcggaggacc gggcgctggt
       61 gcgcgccctg tggaagaagc tgggcagcaa cgtcggcgtc tacacgacag aggccctgga
      121 aaggaccttc ctggctttcc ccgccacgaa gacctacttc tcccacctgg acctgagccc
      181 cggctcctca caagtcagag cccacggcca gaaggtggcg gacgcgctga gcctcgccgt
      241 ggagcgcctg gacgacctac cccacgcgct gtccgcgctg agccacctgc acgcgtgcca
      301 gctgcgagtg gacccggcca gcttccagct cctgggccac tgcctgctgg taaccctcgc
      361 ccggcactac cccggagact tcagccccgc gctgcaggcg tcgctggaca agttcctgag
      421 ccacgttatc tcggcgctgg tttccgagta ccgctgaact gtgggtgggt ggccgcggga
      481 tccccaggcg accttccccg tgtttgagta aagcctctcc caggagca
//
