LOCUS       NM_013930               3701 bp    mRNA    linear   ROD 24-SEP-2024
DEFINITION  Mus musculus aminoadipate-semialdehyde synthase (Aass), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_013930
VERSION     NM_013930.4
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 3701)
  AUTHORS   Yang,J., Liang,J., Huang,C., Wu,Z. and Lei,Y.
  TITLE     Hyperactivation of succinate dehydrogenase promotes pyroptosis of
            macrophage via ROS-induced GSDMD oligomerization in acute liver
            failure
  JOURNAL   Mol Immunol 169, 86-98 (2024)
   PUBMED   38552285
  REMARK    GeneRIF: Hyperactivation of succinate dehydrogenase promotes
            pyroptosis of macrophage via ROS-induced GSDMD oligomerization in
            acute liver failure.
REFERENCE   2  (bases 1 to 3701)
  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   3  (bases 1 to 3701)
  AUTHORS   Barzi,M., Johnson,C.G., Chen,T., Rodriguiz,R.M., Hemmingsen,M.,
            Gonzalez,T.J., Rosales,A., Beasley,J., Peck,C.K., Ma,Y.,
            Stiles,A.R., Wood,T.C., Maeso-Diaz,R., Diehl,A.M., Young,S.P.,
            Everitt,J.I., Wetsel,W.C., Lagor,W.R., Bissig-Choisat,B.,
            Asokan,A., El-Gharbawy,A. and Bissig,K.D.
  TITLE     Rescue of glutaric aciduria type I in mice by liver-directed
            therapies
  JOURNAL   Sci Transl Med 15 (692), eadf4086 (2023)
   PUBMED   37075130
REFERENCE   4  (bases 1 to 3701)
  AUTHORS   Guo,Y., Wu,J., Wang,M., Wang,X., Jian,Y., Yang,C. and Guo,W.
  TITLE     The Metabolite Saccharopine Impairs Neuronal Development by
            Inhibiting the Neurotrophic Function of Glucose-6-Phosphate
            Isomerase
  JOURNAL   J Neurosci 42 (13), 2631-2646 (2022)
   PUBMED   35135854
REFERENCE   5  (bases 1 to 3701)
  AUTHORS   Leandro,J., Dodatko,T., DeVita,R.J., Chen,H., Stauffer,B., Yu,C.
            and Houten,S.M.
  TITLE     Deletion of 2-aminoadipic semialdehyde synthase limits metabolite
            accumulation in cell and mouse models for glutaric aciduria type 1
  JOURNAL   J Inherit Metab Dis 43 (6), 1154-1164 (2020)
   PUBMED   32567100
REFERENCE   6  (bases 1 to 3701)
  AUTHORS   Cleveland,B.M., Kiess,A.S. and Blemings,K.P.
  TITLE     Alpha-aminoadipate delta-semialdehyde synthase mRNA knockdown
            reduces the lysine requirement of a mouse hepatic cell line
  JOURNAL   J Nutr 138 (11), 2143-2147 (2008)
   PUBMED   18936211
  REMARK    GeneRIF: These results indicate AASS knockdown decreases the lysine
            requirement of the cell via a reduction of lysine catabolism
            through the saccharopine pathway.
REFERENCE   7  (bases 1 to 3701)
  AUTHORS   Mootha,V.K., Bunkenborg,J., Olsen,J.V., Hjerrild,M.,
            Wisniewski,J.R., Stahl,E., Bolouri,M.S., Ray,H.N., Sihag,S.,
            Kamal,M., Patterson,N., Lander,E.S. and Mann,M.
  TITLE     Integrated analysis of protein composition, tissue diversity, and
            gene regulation in mouse mitochondria
  JOURNAL   Cell 115 (5), 629-640 (2003)
   PUBMED   14651853
REFERENCE   8  (bases 1 to 3701)
  AUTHORS   Papes,F., Surpili,M.J., Langone,F., Trigo,J.R. and Arruda,P.
  TITLE     The essential amino acid lysine acts as precursor of glutamate in
            the mammalian central nervous system
  JOURNAL   FEBS Lett 488 (1-2), 34-38 (2001)
   PUBMED   11163791
REFERENCE   9  (bases 1 to 3701)
  AUTHORS   Papes,F., Kemper,E.L., Cord-Neto,G., Langone,F. and Arruda,P.
  TITLE     Lysine degradation through the saccharopine pathway in mammals:
            involvement of both bifunctional and monofunctional
            lysine-degrading enzymes in mouse
  JOURNAL   Biochem J 344 Pt 2 (Pt 2), 555-563 (1999)
   PUBMED   10567240
REFERENCE   10 (bases 1 to 3701)
  AUTHORS   Gleiberman,L.
  TITLE     Nativity and race
  JOURNAL   Hypertension 34 (5), e7 (1999)
   PUBMED   10567204
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CJ074697.1, AK149400.1 and
            AC133599.3.
            
            On Mar 5, 2010 this sequence version replaced NM_013930.3.
            
            Summary: This gene encodes a bifunctional mitochondrial protein
            that catalyzes the first two steps in the lysine degradation
            pathway. The N-terminus contains lysine-ketoglutarate reductase
            activity and converts lysine to saccharopine, whereas the
            C-terminus contains saccharopine dehydrogenase activity and
            converts saccharopine to alpha-aminoadipate semialdehyde. Mutations
            in a human gene encoding a highly similar protein are associated
            with familial hyperlysinemia. [provided by RefSeq, Jul 2008].
            
            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 :: AK149400.1, AK044323.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164135 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-75                CJ074697.1         1-75
            76-3284             AK149400.1         1-3209
            3285-3285           AC133599.3         151644-151644       c
            3286-3701           AK149400.1         3211-3626
FEATURES             Location/Qualifiers
     source          1..3701
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 10.27 cM"
     gene            1..3701
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /note="aminoadipate-semialdehyde synthase"
                     /db_xref="GeneID:30956"
                     /db_xref="MGI:MGI:1353573"
     exon            1..106
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            107..331
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..2902
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /EC_number="1.5.1.8"
                     /EC_number="1.5.1.9"
                     /note="saccharopine dehydrogenase; lysine oxoglutarate
                     reductase"
                     /codon_start=1
                     /product="alpha-aminoadipic semialdehyde synthase,
                     mitochondrial"
                     /protein_id="NP_038958.2"
                     /db_xref="CCDS:CCDS19937.1"
                     /db_xref="GeneID:30956"
                     /db_xref="MGI:MGI:1353573"
                     /translation="MLRAQRPRLARLRACLSRGLHHKPVMALRREDVNAWERRAPLAP
                     KHIKGITKLGYKVLIQPSNRRAIHDKEYVRAGGILQEDITEACLILGVKRPPEEKLMS
                     KKTYAFFSHTIKAQEANMNLLDEVLKQEIRLIDYEKMVDHRGSRIVAFGQWAGVAGMI
                     NILHGMGLRLLALGHHTPFMHLGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLT
                     FVFTGTGNVSKGAQEVFNELPCEYVEPHELREVSKTGDLRKVYGTVLSRHHHLVRKTD
                     GVYDPVEYEKYPERYTSRFNTDIAPYTTCLINGIYWEQNTPRLLTRQDAQSLLVPVKS
                     SVVPVEGCPELPHKLVAICDISADTGGSIDFMTECTTIERPFCMYDADQQIIHDSVEG
                     SGILMCSIDNLPAQLPIEATEYFGDMLYPYVEEMLLSDASQPLESQNFSPVVRDAVIT
                     SNGLLTDKYKYIQKLRESRERIQFLSMSTKKKVLVLGSGYVSGPVLEYLSRDNNIEIT
                     LGSDMTNQMQQLSKKYNINPVSLTVGKQEAKLQSLVESQDLVISLLPYVLHPVVAKAC
                     IESRVNMVTASYITPAMKELEKSVDDAGITVIGELGLDPGLDHMLAMETIDTAKELGA
                     TVESYVSYCGGLPAPEHSDNPLRYKFSWSPVGVLMNIMQPASYLLNGKVVNVTGGVSF
                     LNSVTPMDYFPGLNLEGYPNRDSIKYAEIYGISSAHTLLRGTLRYKGYSKALNGFVKL
                     GLINREAYPALRPEANPLTWKQLLCDLVGISRSSPCEKLKEVVFTKLGGDNTQLEAAE
                     WLGLLGDEQVPQAESIVDAFSKHLVSKLSYGPEEKDMIVMRDSFGIRHPSGHLENKTI
                     DLVVYGDFNGFSAMAKTVGLPTAMAAKMLLDGEIEAKGLMGPFTKEIYGPILERIKAE
                     GIVFNTQSTIKL"
     exon            332..508
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            509..593
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            594..661
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            662..808
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            809..887
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1015
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1164
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1287
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1399
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1459
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1527
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1649
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1776
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1777..1887
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1888..1996
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1997..2137
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2138..2305
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2306..2401
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2402..2517
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2518..2606
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2607..2783
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     exon            2784..3701
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3350..3355
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /note="hexamer: AGTAAA"
     polyA_site      3374
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /note="major polyA site"
     regulatory      3409..3414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /note="hexamer: AATAAA"
     polyA_site      3429
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
     regulatory      3576..3581
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
                     /note="hexamer: AATGAA"
     polyA_site      3595
                     /gene="Aass"
                     /gene_synonym="LKR; LKR/SDH; LOR; LOR/SDH; Lorsdh; SDH"
ORIGIN      
        1 ttctgggccc ccgcccccct agtcaatttt ttttgcaggg aaatcagtct gtagggtcca
       61 gattcaagag ctctgggtgg ctggggactg atccataacc tacaagctac cacatttgaa
      121 gatgctgaga gcgcagaggc cgagactggc caggcttaga gcctgcctct ccagaggcct
      181 ccaccacaag ccagtgatgg cactccggag ggaggacgtg aacgcctggg agcgcagggc
      241 gcctctggct cccaagcaca tcaagggcat caccaaactg ggctacaagg tcttgataca
      301 gccttccaac agacgggcca tccatgacaa ggagtatgtc agggctggtg gcattcttca
      361 ggaagacatc acagaagcct gtctgatttt gggagtaaaa aggcctccag aggaaaaact
      421 gatgtccaag aagacgtacg ccttcttttc ccacacaata aaagctcagg aagccaatat
      481 gaacctgttg gatgaggttc tgaaacagga aatccggctc attgattatg agaaaatggt
      541 ggatcacaga gggtctcgga tagtggcttt cggacagtgg gcgggtgtgg caggaatgat
      601 taatatttta catggaatgg gcttaaggct ccttgctttg ggacatcata cgccttttat
      661 gcatcttggc atggctcaca actacaggaa cagcagccag gccgtgcagg ctgtccgtga
      721 tgctggctat gaaatatctc tgggtttaat gccaaagtca ataggaccct taacgtttgt
      781 cttcacaggg actggcaatg tatccaaggg agcccaggaa gtctttaatg agctaccttg
      841 tgagtatgtg gagccccacg aattaagaga agtttcaaaa actggagacc tcaggaaagt
      901 gtatgggacg gtgttaagtc gccatcatca tcttgtcagg aaaacagatg gtgtgtacga
      961 tcccgtagaa tacgagaaat atcctgagcg ctacacaagt cgttttaata cagatattgc
     1021 gccctataca acttgtttaa ttaatggaat ctactgggag caaaacaccc ctcgcctgct
     1081 cacacgtcag gatgctcaga gtctcctggt cccagtgaag tcctcagttg ttcctgttga
     1141 aggatgtcct gaattaccac acaaacttgt ggcaatatgt gacatttcag cagacacggg
     1201 agggtccata gattttatga ctgagtgcac caccatagaa cggccctttt gcatgtatga
     1261 cgcagaccag caaattattc acgacagtgt tgaaggctcc gggatcctga tgtgttccat
     1321 tgacaatttg ccagcacagc ttccaatcga ggctacggaa tactttggag acatgcttta
     1381 cccttatgtt gaagaaatgt tgttatccga tgcatcacaa cctctggaaa gccagaactt
     1441 ctccccagtg gtgcgagacg cagtgattac gtccaatggt ctattgactg acaaatacaa
     1501 atatatacag aaactccgag aaagcagaga acgcattcaa ttcctttcaa tgagtaccaa
     1561 gaagaaggtt ttggtccttg ggtctggcta tgtatctggg cctgttttgg aatatctgtc
     1621 aagagacaac aatatagaaa taacactagg ctctgacatg accaaccaaa tgcagcagct
     1681 gagcaagaaa tacaacatta accctgtcag tttgactgtt ggcaagcaag aggcaaagct
     1741 gcaatccctg gtggaatccc aggatcttgt gatcagcttg ttgccttatg tgcttcatcc
     1801 tgtggtggcc aaagcctgca tcgaaagcag ggttaatatg gtcactgcaa gctatattac
     1861 accagccatg aaagaactgg aaaagagtgt ggatgatgct ggcattacag tcattggtga
     1921 gttgggatta gaccctggtc ttgatcacat gttggcaatg gaaacaattg atactgccaa
     1981 agagctggga gccacggttg agtcttatgt ttcctactgt ggtggccttc cggcccctga
     2041 acattcagat aatcccttgc gatacaaatt cagctggagt ccagtgggag tcttgatgaa
     2101 cataatgcag cctgctagct atctgctcaa tgggaaggtt gtgaatgtga cagggggagt
     2161 ctcttttctc aactctgtca cacccatgga ttacttccca ggtctaaact tggaaggcta
     2221 tcctaacaga gatagcataa aatatgctga gatttatgga atttcatctg cccatacatt
     2281 attaagggga acactgagat ataagggata ttccaaagcc ttgaatggat ttgtgaagtt
     2341 gggactcatc aacagagaag cataccctgc cctccgacct gaggccaacc ctctcacctg
     2401 gaaacaactc ctatgtgacc tagttggaat ttcccgctcc tccccatgcg agaagcttaa
     2461 ggaagttgtc ttcacaaagc tgggagggga caatacccag ctggaagctg cagaatggtt
     2521 gggcttactg ggggatgaac aagttcctca ggcggagtcc attgtggacg cgttctccaa
     2581 gcacttggtc tcaaaactct cctatggccc tgaagaaaag gatatgattg tgatgaggga
     2641 cagctttggc atcagacatc catctggaca tttagaaaat aagaccattg atctcgtggt
     2701 ttatggagac ttcaacggct tctcggcaat ggctaaaact gtggggttgc cgacagccat
     2761 ggcagccaaa atgttgcttg atggtgaaat tgaagccaaa ggcctaatgg ggccctttac
     2821 aaaggagatc tatgggccaa tattggagcg gattaaagca gaaggcattg tatttaacac
     2881 acagagtaca atcaagctat aaatgggaat gtattttccg aagcatcaca cctgttaacc
     2941 ttgggtatga caaacatgct tgctgatgtg ctaaagcatg aagcatgatg tcttttgagt
     3001 aagttcatgg caatggtatt tttgaaatgc aaatctctac tttagtaaag cttttggagt
     3061 agaagaatcc agacatcaca gaacccttta ataagtctcc tgtgtacttt ctgtgtgtat
     3121 gtaaaggtga tcatagtttg ttaatttatt gtgcttcctt ttccccgaga acatattatc
     3181 agcaagtgca gttgtactat ttcctttccc agaaaaaaaa aaaacaactt cacatagtta
     3241 tatttttgta tttttcaaat tgagtctgct acataccttt tagactgaca tatctaaaaa
     3301 caattgtaaa cgtaatttct catgcctttt gtaaagttat gatttattta gtaaattttt
     3361 tgttttgaaa atcatttctc ttgagttttt ggaaaatgga gttgatacaa taaattcagt
     3421 ccttgaaaat ctttaatacc cttccatgat agaaaccaaa ctaaataata caaaataatc
     3481 accacaaaac gtatagcaaa accagatgga aaggaatgcc cttgtagaag aaaattatga
     3541 aaaaatttgt atcatactta atggaaaaaa cactgaatga atggttttca cctgagagca
     3601 caagtatgtt gtcatttacc ccaatgactc aacctgtatt gcacggttag gccagggcaa
     3661 ttaggcaaaa atcaatcaat caatcaatca atcaatcaat c
//
