LOCUS       NM_001409472            1984 bp    mRNA    linear   ROD 26-NOV-2024
DEFINITION  Mus musculus aminolevulinic acid synthase 2, erythroid (Alas2),
            transcript variant 3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001409472 XM_030251199
VERSION     NM_001409472.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1984)
  AUTHORS   Ducamp,S., Sendamarai,A.K., Campagna,D.R., Chin,D.W.L.,
            Fujiwara,Y., Schmidt,P.J. and Fleming,M.D.
  TITLE     Murine models of erythroid 5ALA synthesis disorders and their
            conditional synthetic lethal dependency on pyridoxine
  JOURNAL   Blood 144 (13), 1418-1432 (2024)
   PUBMED   38900972
REFERENCE   2  (bases 1 to 1984)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1984)
  AUTHORS   Ueda,T., Yokota,T., Okuzaki,D., Uno,Y., Mashimo,T., Kubota,Y.,
            Sudo,T., Ishibashi,T., Shingai,Y., Doi,Y., Ozawa,T., Nakai,R.,
            Tanimura,A., Ichii,M., Ezoe,S., Shibayama,H., Oritani,K. and
            Kanakura,Y.
  TITLE     Endothelial Cell-Selective Adhesion Molecule Contributes to the
            Development of Definitive Hematopoiesis in the Fetal Liver
  JOURNAL   Stem Cell Reports 13 (6), 992-1005 (2019)
   PUBMED   31813828
REFERENCE   4  (bases 1 to 1984)
  AUTHORS   Saito,K., Fujiwara,T., Hatta,S., Morita,M., Ono,K., Suzuki,C.,
            Fukuhara,N., Onishi,Y., Nakamura,Y., Kawamata,S., Shimizu,R.,
            Yamamoto,M. and Harigae,H.
  TITLE     Generation and Molecular Characterization of Human Ring
            Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid
            Differentiation and Ring Sideroblast Formation
  JOURNAL   Mol Cell Biol 39 (7), e00387-18 (2019)
   PUBMED   30670569
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1984)
  AUTHORS   Na,I., Catena,D., Kong,M.J., Ferreira,G.C. and Uversky,V.N.
  TITLE     Anti-Correlation between the Dynamics of the Active Site Loop and
            C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse
            Erythroid 5-Aminolevulinate Synthase
  JOURNAL   Int J Mol Sci 19 (7), 1899 (2018)
   PUBMED   29958424
  REMARK    GeneRIF: we used bioinformatics and computational biology tools to
            evaluate the role(s) of the C-terminal tail dynamics in the
            structure and conformational dynamics of the murine ALAS2 homodimer
            active site loop.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1984)
  AUTHORS   Meguro,K., Igarashi,K., Yamamoto,M., Fujita,H. and Sassa,S.
  TITLE     The role of the erythroid-specific delta-aminolevulinate synthase
            gene expression in erythroid heme synthesis
  JOURNAL   Blood 86 (3), 940-948 (1995)
   PUBMED   7620186
REFERENCE   7  (bases 1 to 1984)
  AUTHORS   Sultana,R., Adler,D.A., Edelhoff,S., Carrel,L., Lee,K.H.,
            Chapman,V.C., Willard,H.F. and Disteche,C.M.
  TITLE     The mouse Sb1.8 gene located at the distal end of the X chromosome
            is subject to X inactivation
  JOURNAL   Hum Mol Genet 4 (2), 257-263 (1995)
   PUBMED   7757076
REFERENCE   8  (bases 1 to 1984)
  AUTHORS   Chapman,V.M., Keitz,B.T. and Bishop,D.F.
  TITLE     Genetic linkage of the erythroid-specific delta-aminolevulinate
            synthase gene (Alas2) to the distal region of the mouse X
            chromosome
  JOURNAL   Mamm Genome 5 (11), 741 (1994)
   PUBMED   7873890
REFERENCE   9  (bases 1 to 1984)
  AUTHORS   Schoenhaut,D.S. and Curtis,P.J.
  TITLE     Structure of a mouse erythroid 5-aminolevulinate synthase gene and
            mapping of erythroid-specific DNAse I hypersensitive sites
  JOURNAL   Nucleic Acids Res 17 (17), 7013-7028 (1989)
   PUBMED   2780318
REFERENCE   10 (bases 1 to 1984)
  AUTHORS   Schoenhaut,D.S. and Curtis,P.J.
  TITLE     Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA
            and expression of its gene in hepatic and erythroid tissues
  JOURNAL   Gene 48 (1), 55-63 (1986)
   PUBMED   3557128
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL808140.5 and AL672150.19.
            
            On Jul 18, 2022 this sequence version replaced XM_030251199.1.
            
            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 :: SRR5189673.164538.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849384, SAMN00849385
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                AL808140.5         158756-158794
            40-78               AL808140.5         160811-160849
            79-274              AL672150.19        2686-2881
            275-397             AL672150.19        3496-3618
            398-508             AL672150.19        4470-4580
            509-731             AL672150.19        7723-7945
            732-916             AL672150.19        8476-8660
            917-1096            AL672150.19        11271-11450
            1097-1261           AL672150.19        14298-14462
            1262-1530           AL672150.19        15544-15812
            1531-1693           AL672150.19        17038-17200
            1694-1984           AL672150.19        20865-21155
FEATURES             Location/Qualifiers
     source          1..1984
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 68.46 cM"
     gene            1..1984
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /note="aminolevulinic acid synthase 2, erythroid"
                     /db_xref="GeneID:11656"
                     /db_xref="MGI:MGI:87990"
     exon            1..39
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            40..78
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1857
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /EC_number="2.3.1.37"
                     /note="isoform c precursor is encoded by transcript
                     variant 3; 5-aminolevulinate synthase, erythroid-specific,
                     mitochondrial; delta-ALA synthase 2; 5-aminolevulinic acid
                     synthase 2; delta-aminolevulinate synthase 2;
                     erythroid-specific ALAS"
                     /codon_start=1
                     /product="5-aminolevulinate synthase, erythroid-specific,
                     mitochondrial isoform c precursor"
                     /protein_id="NP_001396401.1"
                     /db_xref="GeneID:11656"
                     /db_xref="MGI:MGI:87990"
                     /translation="MANSPTKMDFGLRMVAAAMLLRSCPVLSQGPTGLLGKVAKTYQF
                     LFSIGRCPILATQGPTCSQIHLKATKAGGDSPSWAKSHCPFMLSELQDRKSKIVQRAA
                     PEVQEDVKTFKTDLLSTMDSTTRSHSFPSFQEPEQTEGAVPHLIQNNMTGSQAFGYDQ
                     FFRDKIMEKKQDHTYRVFKTVNRWANAYPFAQHFSEASMASKDVSVWCSNDYLGISRH
                     PRVLQAIEETLKNHGAGAGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVAND
                     STLFTLAKLLPGCEIYSDAGNHASMIQGIRNSGAAKFVFRHNDPGHLKKLLEKSDPKT
                     PKIVAFETVHSMDGAICPLEELCDVAHQYGALTFVDEVHAVGLYGARGAGIGERDGIM
                     HKLDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRL
                     LKGEEGQALRRAHQRNVKHMRQLLMDRGFPVIPCPSHIIPIRVGNAALNSKICDLLLS
                     KHSIYVQAINYPTVPRGEELLRLAPSPHHSPQMMENFVEKLLLAWTEVGLPLQDVSVA
                     ACNFCHRPVHFELMSEWERSYFGNMGPQYVTTYA"
     exon            79..274
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            275..397
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            398..508
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            509..731
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            732..916
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1096
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1261
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1530
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1693
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1694..1984
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1962..1967
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /note="hexamer: AATAAA"
     polyA_site      1984
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /note="major polyA site"
ORIGIN      
        1 actcaccgtc tttggttcgt cctcagtgca gggcaacagg accctcagta tattatggcc
       61 aacagcccca caaaaatgga ctttgggctc aggatggtgg cagcagctat gttgctacgg
      121 tcctgtccag tgctctctca gggccccaca ggcctcctgg gcaaagtggc taaaacctac
      181 cagttcctat ttagtattgg acgctgcccc atcctggcca ctcaaggacc aacctgttct
      241 caaatccatc ttaaggcaac caaggctgga ggagactctc catcttgggc taagagccat
      301 tgtcctttca tgctgtcaga actccaagac aggaagagca agattgtgca gagggcagct
      361 ccagaagttc aagaggatgt caagactttc aagacagacc tgctgagcac catggattca
      421 accacccgaa gccattcatt tcctagtttc caggagccag agcagactga aggggcagtt
      481 ccccacctga ttcagaacaa tatgactgga agccaggctt tcggttatga ccaatttttc
      541 agagacaaga tcatggagaa gaaacaggac cacacctacc gtgtgttcaa gactgtgaat
      601 cgttgggcta atgcctaccc ctttgcccaa cacttctccg aggcatctat ggcatcaaag
      661 gatgtttctg tttggtgtag taatgactat ttgggcataa gcagacaccc tcgtgtcttg
      721 caggccatag aggagaccct gaagaatcat ggagctggag ctgggggcac tcgcaatatc
      781 tcaggtacca gcaagtttca tgtggagctt gaacaggagc tggctgaact acaccagaaa
      841 gactcagctc tgctcttctc ctcctgtttt gtggccaatg attctactct ctttacactg
      901 gccaagcttc tgccagggtg tgagatctac tcagatgcag gcaatcatgc ctccatgatc
      961 caaggcattc gcaacagtgg tgcagccaag tttgtcttca gacacaatga cccaggccac
     1021 ctgaagaaac ttctcgagaa gtctgatccc aagacaccaa aaattgtggc ttttgagact
     1081 gttcattcca tggatggtgc catctgtcct ctggaggaat tgtgtgatgt ggcccaccag
     1141 tatggagccc tgaccttcgt agatgaagtc catgctgtag gactgtatgg agcccggggt
     1201 gcaggtatcg gggagcgtga tggaattatg cacaagcttg acatcatctc tggaactctt
     1261 ggcaaggcct ttggttgcgt cggtggctat atagccagca ctcgggactt ggtggacatg
     1321 gtgcgctcct acgctgcagg cttcatcttt accacttcac tgcctcccat ggtgctctct
     1381 ggggctctag aatctgtgcg cctactcaag ggagaggagg gtcaagccct gaggcgggca
     1441 caccagcgca atgtcaaaca catgcgccag ctgctaatgg acaggggctt tcctgttatc
     1501 ccctgtccca gccacatcat ccccatcagg gtgggtaatg cagcactcaa cagcaagatc
     1561 tgtgatcttc tgctctccaa gcacagcatc tatgtgcagg ccatcaacta cccaactgtg
     1621 cctcgtggtg aggagctact gcgcttggcc ccctcccccc accacagccc tcagatgatg
     1681 gaaaactttg tggagaagct gctgctggcc tggactgagg tggggctgcc cctccaagat
     1741 gtgtctgtgg ctgcatgcaa cttctgtcat cgtcctgtgc actttgaact tatgagcgag
     1801 tgggagcgat cctactttgg gaacatggga ccccaatatg ttaccaccta tgcttaagga
     1861 gccagctgcc ttggatgcca gctccacctg cactccccct ggggctgggc ttcctcctgc
     1921 tctctgcttt cctgtgtgct tctggctgac ttgattctga aaataaagag caacttgaaa
     1981 catt
//
