LOCUS       NP_065584                642 aa            linear   ROD 30-APR-2024
DEFINITION  5-aminolevulinate synthase, non-specific, mitochondrial precursor
            [Mus musculus].
ACCESSION   NP_065584 XP_914424
VERSION     NP_065584.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 642)
  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  (residues 1 to 642)
  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  (residues 1 to 642)
  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  (residues 1 to 642)
  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  (residues 1 to 642)
  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  (residues 1 to 642)
  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  (residues 1 to 642)
  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  (residues 1 to 642)
  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  (residues 1 to 642)
  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 (residues 1 to 642)
  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 NP_065584.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..642
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 57.46 cM"
     Protein         1..642
                     /product="5-aminolevulinate synthase, non-specific,
                     mitochondrial precursor"
                     /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"
                     /calculated_mol_wt=64811
     transit_peptide 1..56
                     /note="Mitochondrion.
                     /evidence=ECO:0000250|UniProtKB:P07997; propagated from
                     UniProtKB/Swiss-Prot (Q8VC19.2)"
                     /calculated_mol_wt=6224
     Region          2..140
                     /region_name="Preseq_ALAS"
                     /note="5-aminolevulinate synthase presequence; pfam09029"
                     /db_xref="CDD:462658"
     Region          50..109
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8VC19.2)"
     mat_peptide     57..642
                     /product="5-aminolevulinate synthase, non-specific,
                     mitochondrial. /id=PRO_0000001231"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8VC19.2)"
                     /calculated_mol_wt=64811
     Region          144..163
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8VC19.2)"
     Region          199..604
                     /region_name="AAT_I"
                     /note="Aspartate aminotransferase (AAT) superfamily (fold
                     type I) of pyridoxal phosphate (PLP)-dependent enzymes.
                     PLP combines with an alpha-amino acid to form a compound
                     called a Schiff base or aldimine intermediate, which
                     depending on the reaction, is the...; cl18945"
                     /db_xref="CDD:450240"
     Site            order(253,313..315,341,384,388..389,413,415..416,444,447,
                     573)
                     /site_type="active"
                     /note="substrate-cofactor binding pocket [active]"
                     /db_xref="CDD:99747"
     Site            order(313..315,341,384,388,413,415..416,444,447)
                     /site_type="other"
                     /note="pyridoxal 5'-phosphate binding site [chemical
                     binding]"
                     /db_xref="CDD:99747"
     Site            447
                     /site_type="active"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:99747"
     Site            578
                     /site_type="hydroxylation"
                     /note="Hydroxyproline.
                     /evidence=ECO:0000250|UniProtKB:P13196; propagated from
                     UniProtKB/Swiss-Prot (Q8VC19.2)"
     CDS             1..642
                     /gene="Alas1"
                     /gene_synonym="ALAS; Alas-1; Alas-h; ALAS-N"
                     /coded_by="NM_020559.2:192..2120"
                     /db_xref="CCDS:CCDS40756.2"
                     /db_xref="GeneID:11655"
                     /db_xref="MGI:MGI:87989"
ORIGIN      
        1 metvvrrcpf lsrvpqaflq kagksllfya qncpkmmevg akpaprtlst savhcqqvke
       61 tppanekekt akaavqqapd esqmaqtpdg tqlpsghpsp atsqgsgskc pflaaqlsqt
      121 gssvfrkasl elqedvqemh avrkeaaqsp vppslvnvkt dgedpsrllk nfqdimrkqr
      181 pervshllqd nlpksvstfq ydhffekkid ekkndhtyrv fktvnrraqi fpmaddytds
      241 litkkqvsvw csndylgmsr hprvcgavme tvkqhgagag gtrnisgtsk fhveleqala
      301 dlhgkdaall fsscfvands tlftlakmmp gceiysdsgn hasmiqgirn srvpkyifrh
      361 ndvnhlrell qrsdpsvpki vafetvhsmd gavcpleelc dvahefgait fvdevhavgl
      421 ygargggigd rdgvmpkmdi isgtlgkafg cvggyiasts llidtvrsya agfifttslp
      481 pmllagales vrilkssegr alrrqhqrnv kllrqmlmda glpvihcpsh iipvrvadaa
      541 knteicdelm trhniyvqai nyptvprgee llriaptphh tpqmmnffve kllvtwkrvg
      601 lelkphssae cnfcrrplhf evmserekay fsgmskmvsa qa
//
