LOCUS       NM_001409474            1849 bp    mRNA    linear   ROD 26-NOV-2024
DEFINITION  Mus musculus aminolevulinic acid synthase 2, erythroid (Alas2),
            transcript variant 5, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001409474
VERSION     NM_001409474.1
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 1849)
  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 1849)
  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 1849)
  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 1849)
  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 1849)
  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 1849)
  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 1849)
  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 1849)
  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 1849)
  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 1849)
  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.
            
            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 :: ERR2680379.102369.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849384, SAMN00849386
                                           [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
            40-235              AL672150.19        2686-2881
            236-313             AL672150.19        3541-3618
            314-424             AL672150.19        4470-4580
            425-647             AL672150.19        7723-7945
            648-832             AL672150.19        8476-8660
            833-1012            AL672150.19        11271-11450
            1013-1177           AL672150.19        14298-14462
            1178-1446           AL672150.19        15544-15812
            1447-1558           AL672150.19        17089-17200
            1559-1849           AL672150.19        20865-21155
FEATURES             Location/Qualifiers
     source          1..1849
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 68.46 cM"
     gene            1..1849
                     /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..1722
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /EC_number="2.3.1.37"
                     /note="isoform e is encoded by transcript variant 5;
                     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 e"
                     /protein_id="NP_001396403.1"
                     /db_xref="GeneID:11656"
                     /db_xref="MGI:MGI:87990"
                     /translation="MVAAAMLLRSCPVLSQGPTGLLGKVAKTYQFLFSIGRCPILATQ
                     GPTCSQIHLKATKAGGELQDRKSKIVQRAAPEVQEDVKTFKTDLLSTMDSTTRSHSFP
                     SFQEPEQTEGAVPHLIQNNMTGSQAFGYDQFFRDKIMEKKQDHTYRVFKTVNRWANAY
                     PFAQHFSEASMASKDVSVWCSNDYLGISRHPRVLQAIEETLKNHGAGAGGTRNISGTS
                     KFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKLLPGCEIYSDAGNHASMIQG
                     IRNSGAAKFVFRHNDPGHLKKLLEKSDPKTPKIVAFETVHSMDGAICPLEELCDVAHQ
                     YGALTFVDEVHAVGLYGARGAGIGERDGIMHKLDIISGTLGKAFGCVGGYIASTRDLV
                     DMVRSYAAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRG
                     FPVIPCPSHIIPIRHSIYVQAINYPTVPRGEELLRLAPSPHHSPQMMENFVEKLLLAW
                     TEVGLPLQDVSVAACNFCHRPVHFELMSEWERSYFGNMGPQYVTTYA"
     exon            236..313
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            314..424
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            425..647
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            648..832
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            833..1012
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1177
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1446
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..1558
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1559..1849
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1827..1832
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Alas2"
                     /gene_synonym="ALAS; Alas-2; ALAS-E; ALASE"
                     /note="hexamer: AATAAA"
     polyA_site      1849
                     /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 aggagaactc
      241 caagacagga agagcaagat tgtgcagagg gcagctccag aagttcaaga ggatgtcaag
      301 actttcaaga cagacctgct gagcaccatg gattcaacca cccgaagcca ttcatttcct
      361 agtttccagg agccagagca gactgaaggg gcagttcccc acctgattca gaacaatatg
      421 actggaagcc aggctttcgg ttatgaccaa tttttcagag acaagatcat ggagaagaaa
      481 caggaccaca cctaccgtgt gttcaagact gtgaatcgtt gggctaatgc ctaccccttt
      541 gcccaacact tctccgaggc atctatggca tcaaaggatg tttctgtttg gtgtagtaat
      601 gactatttgg gcataagcag acaccctcgt gtcttgcagg ccatagagga gaccctgaag
      661 aatcatggag ctggagctgg gggcactcgc aatatctcag gtaccagcaa gtttcatgtg
      721 gagcttgaac aggagctggc tgaactacac cagaaagact cagctctgct cttctcctcc
      781 tgttttgtgg ccaatgattc tactctcttt acactggcca agcttctgcc agggtgtgag
      841 atctactcag atgcaggcaa tcatgcctcc atgatccaag gcattcgcaa cagtggtgca
      901 gccaagtttg tcttcagaca caatgaccca ggccacctga agaaacttct cgagaagtct
      961 gatcccaaga caccaaaaat tgtggctttt gagactgttc attccatgga tggtgccatc
     1021 tgtcctctgg aggaattgtg tgatgtggcc caccagtatg gagccctgac cttcgtagat
     1081 gaagtccatg ctgtaggact gtatggagcc cggggtgcag gtatcgggga gcgtgatgga
     1141 attatgcaca agcttgacat catctctgga actcttggca aggcctttgg ttgcgtcggt
     1201 ggctatatag ccagcactcg ggacttggtg gacatggtgc gctcctacgc tgcaggcttc
     1261 atctttacca cttcactgcc tcccatggtg ctctctgggg ctctagaatc tgtgcgccta
     1321 ctcaagggag aggagggtca agccctgagg cgggcacacc agcgcaatgt caaacacatg
     1381 cgccagctgc taatggacag gggctttcct gttatcccct gtcccagcca catcatcccc
     1441 atcaggcaca gcatctatgt gcaggccatc aactacccaa ctgtgcctcg tggtgaggag
     1501 ctactgcgct tggccccctc cccccaccac agccctcaga tgatggaaaa ctttgtggag
     1561 aagctgctgc tggcctggac tgaggtgggg ctgcccctcc aagatgtgtc tgtggctgca
     1621 tgcaacttct gtcatcgtcc tgtgcacttt gaacttatga gcgagtggga gcgatcctac
     1681 tttgggaaca tgggacccca atatgttacc acctatgctt aaggagccag ctgccttgga
     1741 tgccagctcc acctgcactc cccctggggc tgggcttcct cctgctctct gctttcctgt
     1801 gtgcttctgg ctgacttgat tctgaaaata aagagcaact tgaaacatt
//
