LOCUS       NM_000519                620 bp    mRNA    linear   PRI 01-MAR-2024
DEFINITION  Homo sapiens hemoglobin subunit delta (HBD), mRNA.
ACCESSION   NM_000519
VERSION     NM_000519.4
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 620)
  AUTHORS   Xu,A., Li,M., Ye,Y., Li,L., Ma,M., Wu,S.Y. and Ji,L.
  TITLE     Mutational spectrum of HBD gene in the Chinese population:
            Description of 36 mutations including 11 novel variants
  JOURNAL   Int J Lab Hematol 45 (6), 961-968 (2023)
   PUBMED   37605839
  REMARK    GeneRIF: Mutational spectrum of HBD gene in the Chinese population:
            Description of 36 mutations including 11 novel variants.
REFERENCE   2  (bases 1 to 620)
  AUTHORS   Ren,Z.M., Li,W.J., Xing,Z.H., Fu,X.Y., Zhang,J.Y., Chen,Y.S. and
            Li,D.F.
  TITLE     Detecting rare thalassemia in children with anemia using
            third-generation sequencing
  JOURNAL   Hematology 28 (1), 2241226 (2023)
   PUBMED   37548329
  REMARK    GeneRIF: Detecting rare thalassemia in children with anemia using
            third-generation sequencing.
REFERENCE   3  (bases 1 to 620)
  AUTHORS   Kalai,M., Moumni,I., Ouragini,H., Ben Fraj,I., Mellouli,F.,
            Ouederni,M., Chaouachi,D., Boudriga,I. and Menif,S.
  TITLE     Molecular characterization of a novel homozygous deletion in
            beta-globin cluster causing (deltabeta)0-Thalassemia among Tunisian
            family
  JOURNAL   Ann Clin Biochem 60 (2), 81-85 (2023)
   PUBMED   36214153
  REMARK    GeneRIF: Molecular characterization of a novel homozygous deletion
            in beta-globin cluster causing (deltabeta)[0]-Thalassemia among
            Tunisian family.
REFERENCE   4  (bases 1 to 620)
  AUTHORS   Kasmi,C., Amri,Y., Hadj-Fredj,S., Oueslati,S., Dabboussi,M.,
            Mahjoub,R., Hammami,S., Aljane,I., Mami,F.B., Jamoussi,H.,
            Messaoud,T. and Bibi,A.
  TITLE     Analysis of delta-globin gene alleles in Tunisians: description of
            three new delta-thalassemia mutations
  JOURNAL   Mol Biol Rep 48 (8), 5923-5933 (2021)
   PUBMED   34341901
  REMARK    GeneRIF: Analysis of delta-globin gene alleles in Tunisians:
            description of three new delta-thalassemia mutations.
REFERENCE   5  (bases 1 to 620)
  AUTHORS   Porcu,S., Simbula,M., Marongiu,M.F., Perra,A., Poddie,D.,
            Perseu,L., Kowalik,M.A., Littera,R., Barella,S., Caria,C.A.,
            Demartis,F.R. and Ristaldi,M.S.
  TITLE     Delta-globin gene expression improves sickle cell disease in a
            humanised mouse model
  JOURNAL   Br J Haematol 193 (6), 1228-1237 (2021)
   PUBMED   34046885
  REMARK    GeneRIF: Delta-globin gene expression improves sickle cell disease
            in a humanised mouse model.
REFERENCE   6  (bases 1 to 620)
  AUTHORS   Lawn,R.M., Fritsch,E.F., Parker,R.C., Blake,G. and Maniatis,T.
  TITLE     The isolation and characterization of linked delta- and beta-globin
            genes from a cloned library of human DNA
  JOURNAL   Cell 15 (4), 1157-1174 (1978)
   PUBMED   728996
REFERENCE   7  (bases 1 to 620)
  AUTHORS   Braunitzer,G., Schrank,B., Stangl,A. and Grillemeier,M.
  TITLE     [Hemoglobin XXIII: note on the sequence of the delta-chains of
            human hemoglobin (author's transl)]
  JOURNAL   Hoppe Seylers Z Physiol Chem 359 (7), 777-783 (1978)
   PUBMED   680638
REFERENCE   8  (bases 1 to 620)
  AUTHORS   Rieder,R.F., Clegg,J.B., Weiss,H.J., Christy,N.P. and Rabinowitz,R.
  TITLE     Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu
  JOURNAL   Biochim Biophys Acta 439 (2), 501-504 (1976)
   PUBMED   952968
REFERENCE   9  (bases 1 to 620)
  AUTHORS   Efremov,G.D., Rudivic,R., Niazi,G.A., Hunter,E. Jr., Huisman,T.H.
            and Schroeder,W.A.
  TITLE     An individual with Hb-Lepore-Baltimore- delta beta-thalassaemia in
            a Yugoslavian family
  JOURNAL   Scand J Haematol 16 (2), 81-89 (1976)
   PUBMED   1257702
REFERENCE   10 (bases 1 to 620)
  AUTHORS   Sharma,R.S., Williams,L., Wilson,J.B. and Huisman,T.H.
  TITLE     Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18)
  JOURNAL   Biochim Biophys Acta 393 (2), 379-382 (1975)
   PUBMED   1148221
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY034468.1, BC070282.1 and
            BU664913.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 7, 2018 this sequence version replaced NM_000519.3.
            
            Summary: The delta (HBD) and beta (HBB) genes are normally
            expressed in the adult: two alpha chains plus two beta chains
            constitute HbA, which in normal adult life comprises about 97% of
            the total hemoglobin. Two alpha chains plus two delta chains
            constitute HbA-2, which with HbF comprises the remaining 3% of
            adult hemoglobin. Five beta-like globin genes are found within a 45
            kb cluster on chromosome 11 in the following order:
            5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the
            delta-globin gene are associated with beta-thalassemia. [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 :: SRR1163658.29352.1, BU663989.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650601.1/ ENSP00000497529.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AY034468.1         146-188
            44-616              BC070282.1         45-617
            617-620             BU664913.1         581-584
FEATURES             Location/Qualifiers
     source          1..620
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..620
                     /gene="HBD"
                     /gene_synonym="HBK"
                     /note="hemoglobin subunit delta"
                     /db_xref="GeneID:3045"
                     /db_xref="HGNC:HGNC:4829"
                     /db_xref="MIM:142000"
     exon            1..142
                     /gene="HBD"
                     /gene_synonym="HBK"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..494
                     /gene="HBD"
                     /gene_synonym="HBK"
                     /note="delta globin; delta-globin chain; hemoglobin delta
                     chain; hemoglobin, delta"
                     /codon_start=1
                     /product="hemoglobin subunit delta"
                     /protein_id="NP_000510.1"
                     /db_xref="CCDS:CCDS31376.1"
                     /db_xref="GeneID:3045"
                     /db_xref="HGNC:HGNC:4829"
                     /db_xref="MIM:142000"
                     /translation="MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFE
                     SFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPE
                     NFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH"
     exon            143..365
                     /gene="HBD"
                     /gene_synonym="HBK"
                     /inference="alignment:Splign:2.1.0"
     exon            366..620
                     /gene="HBD"
                     /gene_synonym="HBK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      600..605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBD"
                     /gene_synonym="HBK"
                     /note="hexamer: AATAAA"
     polyA_site      620
                     /gene="HBD"
                     /gene_synonym="HBK"
                     /note="major polyA site"
ORIGIN      
        1 acactttctt ctgacataac agtgttcact agcaacctca aacagacacc atggtgcatc
       61 tgactcctga ggagaagact gctgtcaatg ccctgtgggg caaagtgaac gtggatgcag
      121 ttggtggtga ggccctgggc agattactgg tggtctaccc ttggacccag aggttctttg
      181 agtcctttgg ggatctgtcc tctcctgatg ctgttatggg caaccctaag gtgaaggctc
      241 atggcaagaa ggtgctaggt gcctttagtg atggcctggc tcacctggac aacctcaagg
      301 gcactttttc tcagctgagt gagctgcact gtgacaagct gcacgtggat cctgagaact
      361 tcaggctctt gggcaatgtg ctggtgtgtg tgctggcccg caactttggc aaggaattca
      421 ccccacaaat gcaggctgcc tatcagaagg tggtggctgg tgtggctaat gccctggctc
      481 acaagtacca ttgagatcct ggactgtttc ctgataacca taagaagacc ctatttccct
      541 agattctatt ttctgaactt gggaacacaa tgcctacttc aagggtatgg cttctgccta
      601 ataaagaatg ttcagctcaa
//
