LOCUS       NM_023113               1530 bp    mRNA    linear   ROD 14-JAN-2025
DEFINITION  Mus musculus aspartoacylase (Aspa), transcript variant 1, mRNA.
ACCESSION   NM_023113
VERSION     NM_023113.6
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 1530)
  AUTHORS   Xu,X., Fang,M., Chen,L., Huang,H., Dai,Z.M., Yang,J. and Qiu,M.
  TITLE     Nzf2 promotes oligodendrocyte differentiation and regeneration via
            repressing HDAC1-mediated histone deacetylation
  JOURNAL   Sci Adv 10 (50), eadf8405 (2024)
   PUBMED   39671488
REFERENCE   2  (bases 1 to 1530)
  AUTHORS   Hull,V.L., Wang,Y., McDonough,J., Zhu,M., Burns,T., Al Ramel,N.,
            Dehghani,A., Guo,F. and Pleasure,D.
  TITLE     Astroglial conditional Slc13a3 knockout is therapeutic in murine
            Canavan leukodystrophy
  JOURNAL   Ann Clin Transl Neurol 11 (4), 1059-1062 (2024)
   PUBMED   38282243
REFERENCE   3  (bases 1 to 1530)
  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   4  (bases 1 to 1530)
  AUTHORS   Traka,M., Wollmann,R.L., Cerda,S.R., Dugas,J., Barres,B.A. and
            Popko,B.
  TITLE     Nur7 is a nonsense mutation in the mouse aspartoacylase gene that
            causes spongy degeneration of the CNS
  JOURNAL   J Neurosci 28 (45), 11537-11549 (2008)
   PUBMED   18987190
  REMARK    GeneRIF: Nur7( Q193X) is a nonsense mutation in the mouse
            aspartoacylase gene that causes spongy degeneration of the CNS.
REFERENCE   5  (bases 1 to 1530)
  AUTHORS   Kile,B.T., Hentges,K.E., Clark,A.T., Nakamura,H., Salinger,A.P.,
            Liu,B., Box,N., Stockton,D.W., Johnson,R.L., Behringer,R.R.,
            Bradley,A. and Justice,M.J.
  TITLE     Functional genetic analysis of mouse chromosome 11
  JOURNAL   Nature 425 (6953), 81-86 (2003)
   PUBMED   12955145
REFERENCE   6  (bases 1 to 1530)
  AUTHORS   Surendran,S., Rady,P.L., Michals-Matalon,K., Quast,M.J.,
            Rassin,D.K., Campbell,G.A., Ezell,E.L., Wei,J., Tyring,S.K.,
            Szucs,S. and Matalon,R.
  TITLE     Expression of glutamate transporter, GABRA6, serine proteinase
            inhibitor 2 and low levels of glutamate and GABA in the brain of
            knock-out mouse for Canavan disease
  JOURNAL   Brain Res Bull 61 (4), 427-435 (2003)
   PUBMED   12909286
REFERENCE   7  (bases 1 to 1530)
  AUTHORS   Moore,R.A., Le Coq,J., Faehnle,C.R. and Viola,R.E.
  TITLE     Purification and preliminary characterization of brain
            aspartoacylase
  JOURNAL   Arch Biochem Biophys 413 (1), 1-8 (2003)
   PUBMED   12706335
REFERENCE   8  (bases 1 to 1530)
  AUTHORS   Namboodiri,M.A., Corigliano-Murphy,A., Jiang,G., Rollag,M. and
            Provencio,I.
  TITLE     Murine aspartoacylase: cloning, expression and comparison with the
            human enzyme
  JOURNAL   Brain Res Mol Brain Res 77 (2), 285-289 (2000)
   PUBMED   10837925
REFERENCE   9  (bases 1 to 1530)
  AUTHORS   Matalon,R., Rady,P.L., Platt,K.A., Skinner,H.B., Quast,M.J.,
            Campbell,G.A., Matalon,K., Ceci,J.D., Tyring,S.K., Nehls,M.,
            Surendran,S., Wei,J., Ezell,E.L. and Szucs,S.
  TITLE     Knock-out mouse for Canavan disease: a model for gene transfer to
            the central nervous system
  JOURNAL   J Gene Med 2 (3), 165-175 (2000)
   PUBMED   10894262
REFERENCE   10 (bases 1 to 1530)
  AUTHORS   Nadeau,J.H.
  TITLE     A chromosomal segment conserved since divergence of lineages
            leading to man and mouse: the gene order of aminoacylase-1,
            transferrin, and beta-galactosidase on mouse chromosome 9
  JOURNAL   Genet Res 48 (3), 175-178 (1986)
   PUBMED   3106151
  REMARK    Erratum:[Genet Res 1987 Aug;50(1):77]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL645739.9.
            
            On Mar 1, 2023 this sequence version replaced NM_023113.5.
            
            Summary: This gene encodes an enzyme that deacteylates
            N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and
            L-aspartate. In humans, alterations in neuronal NAA concentration
            are associated with many neurodegenerative diseases (decrease
            associated with epilepsy, multiple sclerosis, myotrophic lateral
            sclerosis, and Alzheimer's disease; increase associated with
            Canavan disease). In mouse, mutations in this gene, which cause
            accumulation of NAA, result in demyelination and spongy
            degeneration in the CNS and serve as a pathophysiological model for
            Canavan disease. [provided by RefSeq, Dec 2012].
            
            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 :: AK002859.1, BC024934.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN01164131
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-380               AL645739.9         57344-57723         c
            381-576             AL645739.9         55175-55370         c
            577-670             AL645739.9         52884-52977         c
            671-778             AL645739.9         46599-46706         c
            779-888             AL645739.9         41798-41907         c
            889-1530            AL645739.9         38081-38722         c
FEATURES             Location/Qualifiers
     source          1..1530
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 45.28 cM"
     gene            1..1530
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /note="aspartoacylase"
                     /db_xref="GeneID:11484"
                     /db_xref="MGI:MGI:87914"
     exon            1..380
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..1086
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /EC_number="3.5.1.15"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aminoacylase-2; aspartoacylase (aminoacylase) 2"
                     /codon_start=1
                     /product="aspartoacylase isoform 1"
                     /protein_id="NP_075602.2"
                     /db_xref="CCDS:CCDS25005.1"
                     /db_xref="GeneID:11484"
                     /db_xref="MGI:MGI:87914"
                     /translation="MTSCVAKEPIKKIAIFGGTHGNELTGVFLVTHWLRNGTEVHRAG
                     LDVKPFITNPRAVEKCTRYIDCDLNRVFDLENLSKEMSEDLPYEVRRAQEINHLFGPK
                     NSDDAYDLVFDLHNTTSNMGCTLILEDSRNDFLIQMFHYIKTCMAPLPCSVYLIEHPS
                     LKYATTRSIAKYPVGIEVGPQPHGVLRADILDQMRKMIKHALDFIQHFNEGKEFPPCS
                     IDVYKIMEKVDYPRNESGDMAAVIHPNLQDQDWKPLHPGDPVFVSLDGKVIPLGGDCT
                     VYPVFVNEAAYYEKKEAFAKTTKLTLSAKSIRSTLH"
     exon            381..576
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /inference="alignment:Splign:2.1.0"
     exon            577..670
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /inference="alignment:Splign:2.1.0"
     exon            671..778
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /inference="alignment:Splign:2.1.0"
     exon            779..888
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1530
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1510..1515
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /note="hexamer: ATTAAA"
     polyA_site      1530
                     /gene="Aspa"
                     /gene_synonym="Acy-2; Acy2; nur7"
                     /note="major polyA site"
ORIGIN      
        1 agttgtgaag tcagttctca agagagctct gtattttgca cttctcaatt agatctaaac
       61 ttggaaactt ttctcagaag ttaactgtcc tttgacctct tctcttctga attgcagaaa
      121 tcagacagga tcttggtatt tgttaaaatg acctcttgtg ttgctaaaga acctattaag
      181 aagattgcca tctttggagg gactcatgga aatgaactga ccggagtgtt tctagttact
      241 cactggctaa ggaatggcac tgaagttcac agagcagggc tggacgtgaa gccattcatt
      301 accaatccaa gggcggtgga gaagtgcacc agatacattg actgtgacct gaatcgtgtt
      361 tttgaccttg aaaatcttag caaagagatg tctgaagact tgccatatga agtgagaagg
      421 gctcaagaaa taaatcattt atttggtcca aaaaatagtg atgatgccta tgaccttgtt
      481 tttgaccttc acaacaccac ttctaacatg ggttgcactc ttattcttga ggattccagg
      541 aatgactttt taattcagat gtttcactat attaagactt gcatggctcc attaccctgc
      601 tctgtttatc tcattgagca tccttcactc aaatatgcaa ccactcgttc cattgccaag
      661 tatcctgttg gtatagaagt tggtcctcag cctcacggtg tccttagagc tgatatttta
      721 gaccaaatga gaaaaatgat aaaacatgct cttgatttta tacagcattt caatgaagga
      781 aaagaatttc ctccctgttc tattgacgtc tataaaataa tggagaaagt tgattatcca
      841 aggaatgaaa gtggagacat ggctgctgtt attcatccta atctgcagga tcaagactgg
      901 aaaccattgc accctggaga tcctgtgttt gtgtctcttg atggaaaagt tattccactg
      961 ggtggagact gtaccgtgta cccagtgttt gtgaatgaag ctgcatatta tgaaaaaaaa
     1021 gaagcatttg caaagacaac aaaactaaca ctcagcgcaa aaagcatccg ctccactttg
     1081 cactaaaagt ctttgcaagc tcagttatag gagtcttgca aacacctaga actctgtaaa
     1141 cctccaagac cagagtgcct tactctagtt cttttcctca gtgcctggcc ccgtgcctca
     1201 agcagtaagc atccaggcca ggttctgaaa ggaaaggata aattaatgaa cgtctttcaa
     1261 atatattttg gatgtgctat gtacaggcaa gtgtgcttct ggtttctgta ttattcttta
     1321 tacagtatat tcttgtagcg taacattgtt aactttcaca tttagaacat aacattgaaa
     1381 tacatgctag tgcaacttag cacacagcag gacagactat atgttttcaa gtaatgcata
     1441 agtgctaatc aaaactaata gtacagactt tgtgttttta agttctggtg tgtgaattaa
     1501 tgacagtgaa ttaaatgtcc attccataaa
//
