LOCUS       NM_005332                798 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens hemoglobin subunit zeta (HBZ), mRNA.
ACCESSION   NM_005332
VERSION     NM_005332.3
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 798)
  AUTHORS   Fajami,Z., Akbarin,M.M., Rafatpanah,H., Ramezani,S., Rahimi,H. and
            Rezaee,S.A.
  TITLE     Assessment of Bcl-xL, TAX, and HBZ Gene Expression in Adult T cell
            Leukemia/Lymphoma Patients
  JOURNAL   AIDS Res Hum Retroviruses 40 (3), 141-147 (2024)
   PUBMED   37565279
  REMARK    GeneRIF: Assessment of Bcl-xL, TAX, and HBZ Gene Expression in
            Adult T cell Leukemia/Lymphoma Patients.
REFERENCE   2  (bases 1 to 798)
  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   3  (bases 1 to 798)
  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   4  (bases 1 to 798)
  AUTHORS   Wei,X., Das,J., Fragoza,R., Liang,J., Bastos de Oliveira,F.M.,
            Lee,H.R., Wang,X., Mort,M., Stenson,P.D., Cooper,D.N., Lipkin,S.M.,
            Smolka,M.B. and Yu,H.
  TITLE     A massively parallel pipeline to clone DNA variants and examine
            molecular phenotypes of human disease mutations
  JOURNAL   PLoS Genet 10 (12), e1004819 (2014)
   PUBMED   25502805
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 798)
  AUTHORS   He,Z., Song,D., van Zalen,S. and Russell,J.E.
  TITLE     Structural determinants of human zeta-globin mRNA stability
  JOURNAL   J Hematol Oncol 7, 35 (2014)
   PUBMED   24751163
  REMARK    GeneRIF: Data indicate a tetranucleotide 3'UTR motif that is
            required for the high-level accumulation of zeta-globin transcripts
            in cultured cells, and demonstrate that it prolongs their
            cytoplasmic half-lives.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 798)
  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 798)
  AUTHORS   Fougerousse,F., Meloni,R., Roudaut,C. and Beckmann,J.S.
  TITLE     Dinucleotide repeat polymorphism at the human hemoglobin alpha-1
            pseudo-gene (HBAP1)
  JOURNAL   Nucleic Acids Res 20 (5), 1165 (1992)
   PUBMED   1549498
REFERENCE   8  (bases 1 to 798)
  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   9  (bases 1 to 798)
  AUTHORS   Hess,J., Perez-Stable,C., Wu,G.J., Weir,B., Tinoco,I. Jr. and
            Shen,C.K.
  TITLE     End-to-end transcription of an Alu family repeat. A new type of
            polymerase-III-dependent terminator and its evolutionary
            implication
  JOURNAL   J Mol Biol 184 (1), 7-21 (1985)
   PUBMED   2411938
REFERENCE   10 (bases 1 to 798)
  AUTHORS   Proudfoot,N.J. and Brownlee,G.G.
  TITLE     3' non-coding region sequences in eukaryotic messenger RNA
  JOURNAL   Nature 263 (5574), 211-214 (1976)
   PUBMED   822353
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z84721.1.
            
            On May 21, 2019 this sequence version replaced NM_005332.2.
            
            Summary: Zeta-globin is an alpha-like hemoglobin. The zeta-globin
            polypeptide is synthesized in the yolk sac of the early embryo,
            while alpha-globin is produced throughout fetal and adult life. The
            zeta-globin gene is a member of the human alpha-globin gene cluster
            that includes five functional genes and two pseudogenes. The order
            of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2
            -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BX102376.1, BC027892.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252951.3/ ENSP00000252951.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-361               Z84721.1           13507-13867
            362-566             Z84721.1           14755-14959
            567-798             Z84721.1           15135-15366
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..798
                     /gene="HBZ"
                     /gene_synonym="HBAZ; HBZ-T1; HBZ1"
                     /note="hemoglobin subunit zeta"
                     /db_xref="GeneID:3050"
                     /db_xref="HGNC:HGNC:4835"
                     /db_xref="MIM:142310"
     exon            1..361
                     /gene="HBZ"
                     /gene_synonym="HBAZ; HBZ-T1; HBZ1"
                     /inference="alignment:Splign:2.1.0"
     CDS             267..695
                     /gene="HBZ"
                     /gene_synonym="HBAZ; HBZ-T1; HBZ1"
                     /note="zeta-globin; hemoglobin zeta chain; hemoglobin,
                     zeta"
                     /codon_start=1
                     /product="hemoglobin subunit zeta"
                     /protein_id="NP_005323.1"
                     /db_xref="CCDS:CCDS10397.1"
                     /db_xref="GeneID:3050"
                     /db_xref="HGNC:HGNC:4835"
                     /db_xref="MIM:142310"
                     /translation="MSLTKTERTIIVSMWAKISTQADTIGTETLERLFLSHPQTKTYF
                     PHFDLHPGSAQLRAHGSKVVAAVGDAVKSIDDIGGALSKLSELHAYILRVDPVNFKLL
                     SHCLLVTLAARFPADFTAEAHAAWDKFLSVVSSVLTEKYR"
     exon            362..566
                     /gene="HBZ"
                     /gene_synonym="HBAZ; HBZ-T1; HBZ1"
                     /inference="alignment:Splign:2.1.0"
     exon            567..798
                     /gene="HBZ"
                     /gene_synonym="HBAZ; HBZ-T1; HBZ1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      781..786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBZ"
                     /gene_synonym="HBAZ; HBZ-T1; HBZ1"
                     /note="hexamer: AATAAA"
     polyA_site      798
                     /gene="HBZ"
                     /gene_synonym="HBAZ; HBZ-T1; HBZ1"
                     /note="major polyA site"
ORIGIN      
        1 agactctggc caacaccccc tgtaaggcca caggagagga acaggagtga tagcccccaa
       61 accccagtcc caccaggccc tgagggcccc tttgtcactg gatctgataa gaaacaccac
      121 ccctgcagcc ccctcccctc acctgaccaa tggccacagc ctggctgggc ccagctccct
      181 gtatataagg ggaccctggg ggctgagcac taccaaggcc agtcctgagc aggcccaact
      241 ccagtgcagc tgcccaccct gccgccatgt ctctgaccaa gactgagagg accatcattg
      301 tgtccatgtg ggccaagatc tccacgcagg ccgacaccat cggcaccgag actctggaga
      361 ggctcttcct cagccacccg cagaccaaga cctacttccc gcacttcgac ctgcacccgg
      421 ggtccgcgca gttgcgcgcg cacggctcca aggtggtggc cgccgtgggc gacgcggtga
      481 agagcatcga cgacatcggc ggcgccctgt ccaagctgag cgagctgcac gcctacatcc
      541 tgcgcgtgga cccggtcaac ttcaagctcc tgtcccactg cctgctggtc accctggccg
      601 cgcgcttccc cgccgacttc acggccgagg cccacgccgc ctgggacaag ttcctatcgg
      661 tcgtatcctc tgtcctgacc gagaagtacc gctgagcgcc gcctccggga cccccaggac
      721 aggctgcggc ccctcccccg tcctggaggt tccccagccc cacttaccgc gtaatgcgcc
      781 aataaaccaa tgaacgaa
//
