LOCUS       NM_020559               2702 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus aminolevulinic acid synthase 1 (Alas1), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_020559 XM_909331
VERSION     NM_020559.2
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 2702)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2702)
  AUTHORS   Vagany,V., Robinson,S., Chernova,T. and Smith,A.G.
  TITLE     Complex response to physiological and drug-induced hepatic heme
            demand in monoallelic ALAS1 mice
  JOURNAL   Mol Genet Metab Rep 29, 100818 (2021)
   PUBMED   34900592
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2702)
  AUTHORS   van Wijk,K., Akabane,T., Kimura,T., Saitoh,S., Okano,S.,
            Kelly,V.P., Takagi,M., Kodama,K., Takahashi,K., Tanaka,T.,
            Nakajima,M. and Nakajima,O.
  TITLE     Heterozygous disruption of ALAS1 in mice causes an accelerated
            age-dependent reduction in free heme, but not total heme, in
            skeletal muscle and liver
  JOURNAL   Arch Biochem Biophys 697, 108721 (2021)
   PUBMED   33307066
  REMARK    GeneRIF: Heterozygous disruption of ALAS1 in mice causes an
            accelerated age-dependent reduction in free heme, but not total
            heme, in skeletal muscle and liver.
REFERENCE   4  (bases 1 to 2702)
  AUTHORS   Yasuda,M., Gan,L., Chen,B., Kadirvel,S., Yu,C., Phillips,J.D.,
            New,M.I., Liebow,A., Fitzgerald,K., Querbes,W. and Desnick,R.J.
  TITLE     RNAi-mediated silencing of hepatic Alas1 effectively prevents and
            treats the induced acute attacks in acute intermittent porphyria
            mice
  JOURNAL   Proc Natl Acad Sci U S A 111 (21), 7777-7782 (2014)
   PUBMED   24821812
  REMARK    GeneRIF: RNAi-mediated silencing of hepatic Alas1 effectively
            prevents and treats the induced acute attacks in acute intermittent
            porphyria mice.
REFERENCE   5  (bases 1 to 2702)
  AUTHORS   Oliveri,L.M., Davio,C., Batlle,A.M. and Gerez,E.N.
  TITLE     ALAS1 gene expression is down-regulated by Akt-mediated
            phosphorylation and nuclear exclusion of FOXO1 by vanadate in
            diabetic mice
  JOURNAL   Biochem J 442 (2), 303-310 (2012)
   PUBMED   22070747
  REMARK    GeneRIF: Both ALAS1 mRNA and protein content were induced in
            diabetic animals, accompanied by decreased Akt phosphorylation and
            increased nuclear FOXO1, PGC-1alpha and FOXO1-PGC-1alpha complex
            levels.
REFERENCE   6  (bases 1 to 2702)
  AUTHORS   Fraser,D.J., Zumsteg,A. and Meyer,U.A.
  TITLE     Nuclear receptors constitutive androstane receptor and pregnane X
            receptor activate a drug-responsive enhancer of the murine
            5-aminolevulinic acid synthase gene
  JOURNAL   J Biol Chem 278 (41), 39392-39401 (2003)
   PUBMED   12881517
  REMARK    GeneRIF: identified a drug-responsive enhancer in the ALAS1 gene
REFERENCE   7  (bases 1 to 2702)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   8  (bases 1 to 2702)
  AUTHORS   Kelley-Loughnane,N., Sabla,G.E., Ley-Ebert,C., Aronow,B.J. and
            Bezerra,J.A.
  TITLE     Independent and overlapping transcriptional activation during liver
            development and regeneration in mice
  JOURNAL   Hepatology 35 (3), 525-534 (2002)
   PUBMED   11870364
REFERENCE   9  (bases 1 to 2702)
  AUTHORS   Roberts,A.G. and Elder,G.H.
  TITLE     Alternative splicing and tissue-specific transcription of human and
            rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes
  JOURNAL   Biochim Biophys Acta 1518 (1-2), 95-105 (2001)
   PUBMED   11267664
REFERENCE   10 (bases 1 to 2702)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY129328.1 and AK133283.1.
            
            On Nov 20, 2007 this sequence version replaced NM_020559.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR7345562.2990169.1,
                                           SRR13422598.1108686.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-170               BY129328.1         1-170
            171-2702            AK133283.1         559-3090
FEATURES             Location/Qualifiers
     source          1..2702
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 57.46 cM"
     gene            1..2702
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /note="aminolevulinic acid synthase 1"
                     /db_xref="GeneID:11655"
                     /db_xref="MGI:MGI:87989"
     exon            1..170
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            171..390
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..2120
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /EC_number="2.3.1.37"
                     /note="aminolevulinate synthase H; 5-aminolevulinate
                     synthase, nonspecific, mitochondrial; delta-ALA synthase
                     1; 5-aminolevulinic acid synthase 1; delta-aminolevulinate
                     synthase 1; succinyl-CoA: glycine C-succinyl transferase;
                     5-aminolevulinate synthase, non-specific, mitochondrial"
                     /codon_start=1
                     /product="5-aminolevulinate synthase, non-specific,
                     mitochondrial precursor"
                     /protein_id="NP_065584.2"
                     /db_xref="CCDS:CCDS40756.2"
                     /db_xref="GeneID:11655"
                     /db_xref="MGI:MGI:87989"
                     /translation="METVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPA
                     PRTLSTSAVHCQQVKETPPANEKEKTAKAAVQQAPDESQMAQTPDGTQLPSGHPSPAT
                     SQGSGSKCPFLAAQLSQTGSSVFRKASLELQEDVQEMHAVRKEAAQSPVPPSLVNVKT
                     DGEDPSRLLKNFQDIMRKQRPERVSHLLQDNLPKSVSTFQYDHFFEKKIDEKKNDHTY
                     RVFKTVNRRAQIFPMADDYTDSLITKKQVSVWCSNDYLGMSRHPRVCGAVMETVKQHG
                     AGAGGTRNISGTSKFHVELEQALADLHGKDAALLFSSCFVANDSTLFTLAKMMPGCEI
                     YSDSGNHASMIQGIRNSRVPKYIFRHNDVNHLRELLQRSDPSVPKIVAFETVHSMDGA
                     VCPLEELCDVAHEFGAITFVDEVHAVGLYGARGGGIGDRDGVMPKMDIISGTLGKAFG
                     CVGGYIASTSLLIDTVRSYAAGFIFTTSLPPMLLAGALESVRILKSSEGRALRRQHQR
                     NVKLLRQMLMDAGLPVIHCPSHIIPVRVADAAKNTEICDELMTRHNIYVQAINYPTVP
                     RGEELLRIAPTPHHTPQMMNFFVEKLLVTWKRVGLELKPHSSAECNFCRRPLHFEVMS
                     EREKAYFSGMSKMVSAQA"
     exon            391..624
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            625..774
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            775..997
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1182
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1362
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1527
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1796
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1797..1959
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1960..2702
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2207..2212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /note="hexamer: ATTAAA"
     polyA_site      2230
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /note="major polyA site"
     regulatory      2277..2282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /note="hexamer: AATGAA"
     polyA_site      2295
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
     polyA_site      2702
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
ORIGIN      
        1 gcgcgtgcgc gcggcaggcc gcacccaagg cgcatgcgcg gcggtcactc cggctctata
       61 tttagggccg ccagcgatcg cggccttagg ctgctcgtga acaagggcac tggtcggttt
      121 agcgtcctcc gctcgagtgc ctaccgccgc ttcgtcgaga gcccgcgcag gatccaagac
      181 actttgcaaa catggagact gtcgttcgcc gatgcccatt cttatcccga gtccctcagg
      241 cctttctgca gaaggcagga aagtctctgt tgttctatgc tcaaaactgc cccaagatga
      301 tggaagttgg ggccaagcca gctcctcgaa ccctgtccac atcagctgtc cactgccagc
      361 aggtcaaaga aacccctcca gccaatgaga aagagaaaac tgccaaggcc gcagtccagc
      421 aggctcctga cgagtcccag atggcacaga ctccagacgg cacacagctt ccgtctggac
      481 acccgtcccc tgctacaagc cagggctctg ggagcaagtg ccctttcctg gcagcacagc
      541 tgagccagac aggcagcagc gtcttccgca aggccagtct ggagctccag gaggacgtgc
      601 aggaaatgca tgctgtgagg aaagaggctg ctcaaagccc agtgcctccc agcctggtta
      661 atgtgaaaac cgatggagag gatccaagcc gactgctgaa gaacttccag gacatcatgc
      721 gaaagcagag gccagaaaga gtgtctcatc ttcttcagga taacttgcca aagtctgttt
      781 ccacttttca atatgatcat ttctttgaga agaaaattga tgagaaaaaa aatgatcata
      841 cctaccgagt ttttaaaacg gtgaaccgga gagcacaaat cttcccgatg gcggatgact
      901 acacggattc cctcataacc aaaaagcagg tgtcggtctg gtgcagtaat gactacctag
      961 gcatgagtcg acacccacgg gtgtgtgggg ctgtcatgga gactgtgaaa cagcatggtg
     1021 ctggagctgg gggaactagg aatatttctg gaacgagcaa gttccacgta gaactggagc
     1081 aggcactggc cgacctccac ggcaaagatg cggcgctctt gttctcttcc tgttttgtgg
     1141 ccaacgactc caccctcttc accctggcta agatgatgcc aggctgtgaa atttactctg
     1201 attccgggaa ccatgcctcc atgatccaag ggattcgcaa cagtcgagtg ccaaaatata
     1261 tcttccgcca caatgacgtt aaccatctca gagaactgct gcagagatct gacccctcag
     1321 tccccaagat agtagcattt gaaactgtcc attcaatgga tggagcagtg tgcccactgg
     1381 aagagctgtg tgacgtggcc catgagtttg gggcaatcac gtttgtggat gaggtccatg
     1441 cagtggggct ctatggagct cgaggtggag ggatcggtga tcgggatggc gtcatgccaa
     1501 aaatggacat catctctggg acgcttggta aagcgttcgg ctgtgttgga ggatacattg
     1561 ccagcacgag tttgctgatc gacaccgtcc gctcctacgc tgcgggcttc atcttcacca
     1621 cctccttgcc accaatgctg ctggctggag ccctggagtc tgtgcggatc ctgaagagca
     1681 gcgaggggcg cgcccttcgc cgccagcacc agcgaaatgt caagcttctg aggcagatgc
     1741 taatggacgc tggcctcccg gtcatccact gtccgagtca catcatccct gtgcgggttg
     1801 ccgatgctgc taagaacaca gagatctgtg atgagttgat gaccaggcat aatatctacg
     1861 tccaggccat caattaccca acagtgcctc gcggggagga gctcctgcgg atcgccccca
     1921 ccccgcatca caccccgcag atgatgaact tcttcgtgga gaagctgctg gtcacgtgga
     1981 agcgagttgg gctggaactt aagccacatt cgtcagctga atgcaacttc tgcaggaggc
     2041 ccctgcactt tgaagtgatg agcgaaagag agaaagccta tttctcaggc atgagcaaga
     2101 tggtgtctgc ccaggcctga ctctgactca gttattcaca aaccccaggc cattaccata
     2161 cccacatagt agccagaatt gtctttatat gtgaaataaa ttatatatta aatcttaatc
     2221 tatagtaaaa tcatagtcct ggttagtgtg ttaggtgttt ctgctgttga ccactgaatg
     2281 aagagctaac tttcatatgt ggtctgtagt atggagatat aaattgtaat gcctgccagg
     2341 ccacctgctg ggcttaaacc taacctggca gacccagctg gcaccccaga aactacaagc
     2401 agtgataccg cctgctgtag ggttcccttc acacttctgc ctcagaccca gaaggggcag
     2461 tcagtgtgcc cacagtcctg tcgctgctct ttcctgcttt ccctcagccg ctgcctcaac
     2521 ctcacacttc ccactgaaag tcaagcctga aggagagccc atctatgctt accaaggtta
     2581 gcagccagct agctcctgac tccttgtcat ggcctctgca aaggggatag aggctttgtg
     2641 catctcctcc accctctgca cttgtatttg ggtcttgctc tttttataca atctaaaaac
     2701 ac
//
