LOCUS       NM_009653               1945 bp    mRNA    linear   ROD 26-NOV-2024
DEFINITION  Mus musculus aminolevulinic acid synthase 2, erythroid (Alas2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_009653 XM_903652
VERSION     NM_009653.4
KEYWORDS    RefSeq; RefSeq Select.
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 1945)
  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 1945)
  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 1945)
  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 1945)
  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 1945)
  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 1945)
  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 1945)
  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 1945)
  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 1945)
  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 1945)
  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 NM_009653.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: AK002642.1, AK165262.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                AL808140.5         158756-158794
            40-235              AL672150.19        2686-2881
            236-358             AL672150.19        3496-3618
            359-469             AL672150.19        4470-4580
            470-692             AL672150.19        7723-7945
            693-877             AL672150.19        8476-8660
            878-1057            AL672150.19        11271-11450
            1058-1222           AL672150.19        14298-14462
            1223-1491           AL672150.19        15544-15812
            1492-1654           AL672150.19        17038-17200
            1655-1945           AL672150.19        20865-21155
FEATURES             Location/Qualifiers
     source          1..1945
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 68.46 cM"
     gene            1..1945
                     /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..235
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1818
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /EC_number="2.3.1.37"
                     /note="isoform a is encoded by transcript variant 1;
                     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 a"
                     /protein_id="NP_033783.1"
                     /db_xref="CCDS:CCDS41173.1"
                     /db_xref="GeneID:11656"
                     /db_xref="MGI:MGI:87990"
                     /translation="MVAAAMLLRSCPVLSQGPTGLLGKVAKTYQFLFSIGRCPILATQ
                     GPTCSQIHLKATKAGGDSPSWAKSHCPFMLSELQDRKSKIVQRAAPEVQEDVKTFKTD
                     LLSTMDSTTRSHSFPSFQEPEQTEGAVPHLIQNNMTGSQAFGYDQFFRDKIMEKKQDH
                     TYRVFKTVNRWANAYPFAQHFSEASMASKDVSVWCSNDYLGISRHPRVLQAIEETLKN
                     HGAGAGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKLLPGC
                     EIYSDAGNHASMIQGIRNSGAAKFVFRHNDPGHLKKLLEKSDPKTPKIVAFETVHSMD
                     GAICPLEELCDVAHQYGALTFVDEVHAVGLYGARGAGIGERDGIMHKLDIISGTLGKA
                     FGCVGGYIASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAH
                     QRNVKHMRQLLMDRGFPVIPCPSHIIPIRVGNAALNSKICDLLLSKHSIYVQAINYPT
                     VPRGEELLRLAPSPHHSPQMMENFVEKLLLAWTEVGLPLQDVSVAACNFCHRPVHFEL
                     MSEWERSYFGNMGPQYVTTYA"
     exon            236..358
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            359..469
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            470..692
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            693..877
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1057
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1222
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1491
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1654
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1655..1945
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1923..1928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /note="hexamer: AATAAA"
     polyA_site      1945
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /note="major polyA site"
ORIGIN      
        1 actcaccgtc tttggttcgt cctcagtgca gggcaacagg actttgggct caggatggtg
       61 gcagcagcta tgttgctacg gtcctgtcca gtgctctctc agggccccac aggcctcctg
      121 ggcaaagtgg ctaaaaccta ccagttccta tttagtattg gacgctgccc catcctggcc
      181 actcaaggac caacctgttc tcaaatccat cttaaggcaa ccaaggctgg aggagactct
      241 ccatcttggg ctaagagcca ttgtcctttc atgctgtcag aactccaaga caggaagagc
      301 aagattgtgc agagggcagc tccagaagtt caagaggatg tcaagacttt caagacagac
      361 ctgctgagca ccatggattc aaccacccga agccattcat ttcctagttt ccaggagcca
      421 gagcagactg aaggggcagt tccccacctg attcagaaca atatgactgg aagccaggct
      481 ttcggttatg accaattttt cagagacaag atcatggaga agaaacagga ccacacctac
      541 cgtgtgttca agactgtgaa tcgttgggct aatgcctacc cctttgccca acacttctcc
      601 gaggcatcta tggcatcaaa ggatgtttct gtttggtgta gtaatgacta tttgggcata
      661 agcagacacc ctcgtgtctt gcaggccata gaggagaccc tgaagaatca tggagctgga
      721 gctgggggca ctcgcaatat ctcaggtacc agcaagtttc atgtggagct tgaacaggag
      781 ctggctgaac tacaccagaa agactcagct ctgctcttct cctcctgttt tgtggccaat
      841 gattctactc tctttacact ggccaagctt ctgccagggt gtgagatcta ctcagatgca
      901 ggcaatcatg cctccatgat ccaaggcatt cgcaacagtg gtgcagccaa gtttgtcttc
      961 agacacaatg acccaggcca cctgaagaaa cttctcgaga agtctgatcc caagacacca
     1021 aaaattgtgg cttttgagac tgttcattcc atggatggtg ccatctgtcc tctggaggaa
     1081 ttgtgtgatg tggcccacca gtatggagcc ctgaccttcg tagatgaagt ccatgctgta
     1141 ggactgtatg gagcccgggg tgcaggtatc ggggagcgtg atggaattat gcacaagctt
     1201 gacatcatct ctggaactct tggcaaggcc tttggttgcg tcggtggcta tatagccagc
     1261 actcgggact tggtggacat ggtgcgctcc tacgctgcag gcttcatctt taccacttca
     1321 ctgcctccca tggtgctctc tggggctcta gaatctgtgc gcctactcaa gggagaggag
     1381 ggtcaagccc tgaggcgggc acaccagcgc aatgtcaaac acatgcgcca gctgctaatg
     1441 gacaggggct ttcctgttat cccctgtccc agccacatca tccccatcag ggtgggtaat
     1501 gcagcactca acagcaagat ctgtgatctt ctgctctcca agcacagcat ctatgtgcag
     1561 gccatcaact acccaactgt gcctcgtggt gaggagctac tgcgcttggc cccctccccc
     1621 caccacagcc ctcagatgat ggaaaacttt gtggagaagc tgctgctggc ctggactgag
     1681 gtggggctgc ccctccaaga tgtgtctgtg gctgcatgca acttctgtca tcgtcctgtg
     1741 cactttgaac ttatgagcga gtgggagcga tcctactttg ggaacatggg accccaatat
     1801 gttaccacct atgcttaagg agccagctgc cttggatgcc agctccacct gcactccccc
     1861 tggggctggg cttcctcctg ctctctgctt tcctgtgtgc ttctggctga cttgattctg
     1921 aaaataaaga gcaacttgaa acatt
//
