LOCUS       NM_001003938             502 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens hemoglobin subunit mu (HBM), mRNA.
ACCESSION   NM_001003938
VERSION     NM_001003938.4
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 502)
  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 502)
  AUTHORS   Hutten,M., Kohne,E., Yagmur,E., Schaible,T., Wenzl,T., Wagner,N.
            and Heimann,K.
  TITLE     Persistent cyanosis in a 4 month old infant with severe pneumonia
            and haemoglobin M
  JOURNAL   Klin Padiatr 221 (5), 305-307 (2009)
   PUBMED   19199228
  REMARK    GeneRIF: HbM Saskatoon is normally a harmless variant. However, in
            conjunction with severe pneumonia, we assume that it did not only
            affect clinical evaluation, but also exacerbated pneumonia by
            reducing the oxygen binding capacity.
REFERENCE   3  (bases 1 to 502)
  AUTHORS   Cooper,S.J., Wheeler,D., De Leo,A., Cheng,J.F., Holland,R.A.,
            Marshall Graves,J.A. and Hope,R.M.
  TITLE     The mammalian alphaD-globin gene lineage and a new model for the
            molecular evolution of alpha-globin gene clusters at the stem of
            the mammalian radiation
  JOURNAL   Mol Phylogenet Evol 38 (2), 439-448 (2006)
   PUBMED   16024261
REFERENCE   4  (bases 1 to 502)
  AUTHORS   Goh,S.H., Lee,Y.T., Bhanu,N.V., Cam,M.C., Desper,R., Martin,B.M.,
            Moharram,R., Gherman,R.B. and Miller,J.L.
  TITLE     A newly discovered human alpha-globin gene
  JOURNAL   Blood 106 (4), 1466-1472 (2005)
   PUBMED   15855277
  REMARK    GeneRIF: results suggest the human genome encodes a previously
            unrecognized globin member of the avian alpha-D family that is
            transcribed in a highly regulated pattern in erythroid cells
REFERENCE   5  (bases 1 to 502)
  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   6  (bases 1 to 502)
  AUTHORS   Fischel-Ghodsian,N., Nicholls,R.D. and Higgs,D.R.
  TITLE     Unusual features of CpG-rich (HTF) islands in the human alpha
            globin complex: association with non-functional pseudogenes and
            presence within the 3' portion of the zeta gene
  JOURNAL   Nucleic Acids Res 15 (22), 9215-9225 (1987)
   PUBMED   2825132
REFERENCE   7  (bases 1 to 502)
  AUTHORS   Hardison,R.C., Sawada,I., Cheng,J.F., Shen,C.K. and Schmid,C.W.
  TITLE     A previously undetected pseudogene in the human alpha globin gene
            cluster
  JOURNAL   Nucleic Acids Res 14 (4), 1903-1911 (1986)
   PUBMED   3952001
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY698022.2 and BC035682.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001003938.3.
            
            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'. This gene
            has an ORF encoding a 141 aa polypeptide which is similar to the
            delta globins found in reptiles and birds. This locus was
            originally described as a pseudogene; however, it is currently
            thought to be a protein-coding gene. [provided by RefSeq, Jul
            2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC067870.1, AY698022.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356815.4/ ENSP00000349270.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-446               AY698022.2         5-450
            447-502             BC035682.1         434-489
FEATURES             Location/Qualifiers
     source          1..502
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..502
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /note="hemoglobin subunit mu"
                     /db_xref="GeneID:3042"
                     /db_xref="HGNC:HGNC:4826"
                     /db_xref="MIM:609639"
     exon            1..112
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..446
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /note="hemoglobin, alpha pseudogene 2; alpha globin
                     pseudogene 2; hemoglobin mu chain; mu-globin; hemoglobin,
                     mu"
                     /codon_start=1
                     /product="hemoglobin subunit mu"
                     /protein_id="NP_001003938.1"
                     /db_xref="CCDS:CCDS32347.1"
                     /db_xref="GeneID:3042"
                     /db_xref="HGNC:HGNC:4826"
                     /db_xref="MIM:609639"
                     /translation="MLSAQERAQIAQVWDLIAGHEAQFGAELLLRLFTVYPSTKVYFP
                     HLSACQDATQLLSHGQRMLAAVGAAVQHVDNLRAALSPLADLHALVLRVDPANFPLLI
                     QCFHVVLASHLQDEFTVQMQAAWDKFLTGVAVVLTEKYR"
     exon            113..317
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /inference="alignment:Splign:2.1.0"
     exon            318..502
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      482..487
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /note="hexamer: AATAAA"
     polyA_site      502
                     /gene="HBM"
                     /gene_synonym="HBAP2; HBK"
                     /note="major polyA site"
ORIGIN      
        1 agagcacgtc aggcggcgcc atgctcagcg cccaggagcg cgcccaaatc gcgcaggtct
       61 gggacctgat tgcgggccac gaggcgcaat tcggggcgga gctgctgctc aggctcttca
      121 cggtgtaccc cagcaccaag gtctacttcc cgcacctgag cgcctgccag gacgcgacgc
      181 agctgctgag ccacgggcag cgcatgctgg cggctgtggg cgcggcggtg cagcacgtgg
      241 acaacctgcg cgccgcgctg agcccgctgg cggacctgca cgcgctcgtg ctgcgcgtgg
      301 acccagccaa ctttccgctg ctaatccagt gtttccacgt cgtgctggcc tcccacctgc
      361 aggacgagtt caccgtgcaa atgcaagcgg cgtgggacaa gttcctgact ggtgtggccg
      421 tggtgctgac cgaaaaatac cgctgagccc tgtgctgcgc aggccttggt ctgtgcctgt
      481 caataaacag aggcccgaac ca
//
