LOCUS       NM_000049               5422 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens aspartoacylase (ASPA), transcript variant 1, mRNA.
ACCESSION   NM_000049
VERSION     NM_000049.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5422)
  AUTHORS   Gronbaek-Thygesen,M. and Hartmann-Petersen,R.
  TITLE     Cellular and molecular mechanisms of aspartoacylase and its role in
            Canavan disease
  JOURNAL   Cell Biosci 14 (1), 45 (2024)
   PUBMED   38582917
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5422)
  AUTHORS   Han,Y., Wang,X., Xu,M., Teng,Z., Qin,R., Tan,G., Li,P., Sun,P.,
            Liu,H., Chen,L. and Jia,B.
  TITLE     Aspartoacylase promotes the process of tumour development and is
            associated with immune infiltrates in gastric cancer
  JOURNAL   BMC Cancer 23 (1), 604 (2023)
   PUBMED   37391709
  REMARK    GeneRIF: Aspartoacylase promotes the process of tumour development
            and is associated with immune infiltrates in gastric cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5422)
  AUTHORS   Gersing,S.K., Wang,Y., Gronbaek-Thygesen,M., Kampmeyer,C.,
            Clausen,L., Willemoes,M., Andreasson,C., Stein,A.,
            Lindorff-Larsen,K. and Hartmann-Petersen,R.
  TITLE     Mapping the degradation pathway of a disease-linked aspartoacylase
            variant
  JOURNAL   PLoS Genet 17 (4), e1009539 (2021)
   PUBMED   33914734
  REMARK    GeneRIF: Mapping the degradation pathway of a disease-linked
            aspartoacylase variant.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5422)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 5422)
  AUTHORS   Shaag,A., Anikster,Y., Christensen,E., Glustein,J.Z., Fois,A.,
            Michelakakis,H., Nigro,F., Pronicka,E., Ribes,A., Zabot,M.T. et al.
  TITLE     The molecular basis of canavan (aspartoacylase deficiency) disease
            in European non-Jewish patients
  JOURNAL   Am J Hum Genet 57 (3), 572-580 (1995)
   PUBMED   7668285
REFERENCE   6  (bases 1 to 5422)
  AUTHORS   Kaul,R., Gao,G.P., Michals,K., Whelan,D.T., Levin,S. and Matalon,R.
  TITLE     Novel (cys152 > arg) missense mutation in an Arab patient with
            Canavan disease
  JOURNAL   Hum Mutat 5 (3), 269-271 (1995)
   PUBMED   7599639
REFERENCE   7  (bases 1 to 5422)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   8  (bases 1 to 5422)
  AUTHORS   Nagy,A., Bley,A.E. and Eichler,F.
  TITLE     Canavan Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301412
REFERENCE   9  (bases 1 to 5422)
  AUTHORS   Hagenfeldt,L., Bollgren,I. and Venizelos,N.
  TITLE     N-acetylaspartic aciduria due to aspartoacylase deficiency--a new
            aetiology of childhood leukodystrophy
  JOURNAL   J Inherit Metab Dis 10 (2), 135-141 (1987)
   PUBMED   3116332
REFERENCE   10 (bases 1 to 5422)
  AUTHORS   Ziomek,E. and Szewczuk,A.
  TITLE     Polymorphism of the cobalt-activated acylase in human tissues
  JOURNAL   Acta Biochim Pol 25 (1), 3-14 (1978)
   PUBMED   27051
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025125.15.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_000049.3.
            
            Summary: This gene encodes an enzyme that catalyzes the conversion
            of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is
            abundant in the brain where hydrolysis by aspartoacylase is thought
            to help maintain white matter. This protein is an NAA scavenger in
            other tissues. Mutations in this gene cause Canavan disease.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) and variant 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 :: SRR1660809.239208.1,
                                           SRR1803613.185380.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263080.3/ ENSP00000263080.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-399               AC025125.15        72555-72953         c
            400-595             AC025125.15        67152-67347         c
            596-689             AC025125.15        65358-65451         c
            690-797             AC025125.15        59608-59715         c
            798-907             AC025125.15        54491-54600         c
            908-5422            AC025125.15        45545-50059         c
FEATURES             Location/Qualifiers
     source          1..5422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..5422
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="aspartoacylase"
                     /db_xref="GeneID:443"
                     /db_xref="HGNC:HGNC:756"
                     /db_xref="MIM:608034"
     exon            1..399
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..1105
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /EC_number="3.5.1.15"
                     /note="aminoacylase 2; ACY-2; cytosolic aspartoacylase"
                     /codon_start=1
                     /product="aspartoacylase"
                     /protein_id="NP_000040.1"
                     /db_xref="CCDS:CCDS11028.1"
                     /db_xref="GeneID:443"
                     /db_xref="HGNC:HGNC:756"
                     /db_xref="MIM:608034"
                     /translation="MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRT
                     GLEVKPFITNPRAVKKCTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLFGP
                     KDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHP
                     SLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFNEGKEFPPC
                     AIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDC
                     TVYPVFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH"
     exon            400..595
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /inference="alignment:Splign:2.1.0"
     exon            596..689
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /inference="alignment:Splign:2.1.0"
     exon            690..797
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /inference="alignment:Splign:2.1.0"
     exon            798..907
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /inference="alignment:Splign:2.1.0"
     exon            908..5422
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1369..1374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="hexamer: AATAAA"
     polyA_site      1399
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
     regulatory      5401..5406
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="hexamer: AATAAA"
     polyA_site      5422
                     /gene="ASPA"
                     /gene_synonym="ACY2; ASP"
                     /note="major polyA site"
ORIGIN      
        1 agaacttgta acagaaaatt aaaatatact ccactcaagg gaattctgta ctttgccctt
       61 tgggtaaagt ctcatttaca tttctaaacc tttcttaaga aaatcgaatt tcctttgatc
      121 tctcttctga attgcagaaa tcagataaaa actacttggt gaaatgactt cttgtcacat
      181 tgctgaagaa catatacaaa aggttgctat ctttggagga acccatggga atgagctaac
      241 cggagtattt ctggttaagc attggctaga gaatggcgct gagattcaga gaacagggct
      301 ggaggtaaaa ccatttatta ctaaccccag agcagtgaag aagtgtacca gatatattga
      361 ctgtgacctg aatcgcattt ttgaccttga aaatcttggc aaaaaaatgt cagaagattt
      421 gccatatgaa gtgagaaggg ctcaagaaat aaatcattta tttggtccaa aagacagtga
      481 agattcctat gacattattt ttgaccttca caacaccacc tctaacatgg ggtgcactct
      541 tattcttgag gattccagga ataacttttt aattcagatg tttcattaca ttaagacttc
      601 tctggctcca ctaccctgct acgtttatct gattgagcat ccttccctca aatatgcgac
      661 cactcgttcc atagccaagt atcctgtggg tatagaagtt ggtcctcagc ctcaaggggt
      721 tctgagagct gatatcttgg atcaaatgag aaaaatgatt aaacatgctc ttgattttat
      781 acatcatttc aatgaaggaa aagaatttcc tccctgcgcc attgaggtct ataaaattat
      841 agagaaagtt gattaccccc gggatgaaaa tggagaaatt gctgctatca tccatcctaa
      901 tctgcaggat caagactgga aaccactgca tcctggggat cccatgtttt taactcttga
      961 tgggaagacg atcccactgg gcggagactg taccgtgtac cccgtgtttg tgaatgaggc
     1021 cgcatattac gaaaagaaag aagcttttgc aaagacaact aaactaacgc tcaatgcaaa
     1081 aagtattcgc tgctgtttac attagaaatc acttccagct tacatcttac acggtgtctt
     1141 acaaattctg ctagtctgta agctccttaa gagtagggtt gtgccttatt caactgcata
     1201 catagctcct agcacagtgc cttattcggt aggcatctaa gcacatttct taaattaatt
     1261 aatatatctt taaagatatc atattttatg tatgtagctt attcaaagaa gtgtttccta
     1321 tttctatata gtttattata catgatactt gggtagctca acattcttaa taaacagcct
     1381 ttgtattcag aatataaaat tgaaatagat atatataaag ttatttgttt tattgtgctt
     1441 tgccttacta cacttcacgg atactgtact tgtacttttt ttccaaattg aaggtttttg
     1501 gcaaccctgt gtctagaaag tctaacagtg ccatgtttcc aacagcatgt gctcactcct
     1561 tgtctctgtg tcaccctttg ataatatttc aagctttttt atgatttatt tattatatct
     1621 gctatggtga tctgtgatca gtggcctttg atgttactgt tgttaagtgt tttggggcac
     1681 catgaatcgt gcccatgtga gactgcgaac ttagtgaatg ttgtgtgagt tctaactgct
     1741 ctactgaccg gccatttcct tgtctctctc cctgtcctct ggcctccctg ttccttgaga
     1801 cacaataatt aataagtcta cagcagactc tgtgtgttca agtgaaagaa agggtcatac
     1861 ttctagaaat taagcttagt aaggaaggca tgtcaaaagc tgagacaggc tgaaagctag
     1921 gcctcttgca ctggttagcc aagttgtgaa ttcaaagaaa aggatcttga agaaaattaa
     1981 aaattctact ccagtgcaca cacacaaatg ataagaaagc aaaacaacct tattgctgat
     2041 atggagacag ttttagtggt ctggatagaa gatcaaacca gccacacatt aagccaaagc
     2101 atgacccaca gcaaggccct aactctcttc aattctgtga aggctgagag aggtgaggaa
     2161 gctgcaggaa gctgggagag gttggttcac aaggtttaag gaaagaagac agctctaaaa
     2221 cctacaagtg gaaagcgaac cagcaagttg ctgatgtgga agctgtagca agttatccag
     2281 aagatgtagc taaaatcatt gacaaagatg gctacactaa acaacggatc ttcagtgtag
     2341 ttgaaacagc cttctattgg aagaagatgc tatctaggac tttcctagct agaggggaga
     2401 aatgaatgcc tagcttcaaa gcttcaaagg acagcctgac tctcttaaga gctaacacag
     2461 ctggtgactt tgggttaaag ccaaagctca ttaactgttt caaaaatcct aaaactcttg
     2521 ttttttgttt tttttttgag acggagtctt gctctgtcgt ccaggctgga gtgcagtggc
     2581 gcaatctcgg ctcactgcaa gctccgcctc ccaggttcat gccattctcc tgcctcagcc
     2641 tccccagtag ctgagattac aggtgcctgc caccacgccc ggctaatttt ttgcattttt
     2701 ttagtagaga tggggtttca ctctgctagc caggatggtc tcgatctcct gacctcatga
     2761 tccgcctgcc tcggcctccc aaagtgctgg gattacaggc atgagccacc acgcccggcc
     2821 caaaaatcgt aggactctga agactgatgc taaacctgct gtgtctgagc tctataaatg
     2881 gaacaacaaa gcctcgctgg cagcacatct gtttgcggca tggtttactg tatattttaa
     2941 gcccactgtt gagacctact gcttgggaaa aaaaaaaatt cctttcaaaa tactactgct
     3001 gattgacaat acaccatgtt acccaagagc tctgctggag atgtgcgaag agattagcat
     3061 tgttttcgcg cctgctacca cgacatccag ccgaagccca tggatcaagg cgtcattgtg
     3121 actttcaaat ctaactattt aagaaataca tttcaggctg ggggagggga gaaaaaagaa
     3181 aaaaaagaaa ggaagaaaaa aatcatttca taaggctata gctgccatag atagtgattc
     3241 ctctgatgga gctgggcaaa gtaaacagaa aacctctgga aaggattcag cattccagat
     3301 gccattaaga acattcagga tccgtgggag gagatcaaaa tatcaacatt aacaggagtt
     3361 tggaaaaagt gaattccaac cctcttggat gactctgagg aattcgagac ttgagtaaag
     3421 gaagtcatgc agatgtacag caagagaatg agaagtggag cctgaagatg taactgaact
     3481 gctgcaatct catgatcaca cttgaatgga tgaggagtcg cttcttataa atgagcaaaa
     3541 aagtggtttc ttggctgcaa tcaactcttg ttgcagatgc tgtgaacact gttgaaatga
     3601 caaaggattt agaatattac gtaaacatag ttgataaagc agcagcaggg tttaagagga
     3661 ttgactccta ttttgaaatg agttcggctg ggagaagtgg ctcatgcctg tcgtcctagc
     3721 actttgggag gccaaggcag acagagcacc tgaggtaagg agttcgagac cagcctggcc
     3781 aacatggtga aaccccctct ctactaaaaa taccaacata ttagccaggc gtggtggcac
     3841 gtgcctgtag tcccagctac ttgggaggct gaggcagaag gatcacttga acccaggagg
     3901 cagaggttgc agtaagccaa gactgcgcca ctgcactcca gcctggtgga cacagcaagc
     3961 ctccatctca aaaaaaaaaa aaaaaaaaaa atgagttcta ctgtgaataa aatgttatta
     4021 aacagcattt catgctacag agaaatcttt cacgaaagga agagtcaatc aatgcagcga
     4081 acttgttgtt ttattttaag aaattgtcac ggccatccca accctcagtg cccaaccacc
     4141 ctgatcaggc agccatcatc aaggcaaggc cctccaccag caaaaagatc atgaattgct
     4201 gaaagctcaa atgatggtta gcttttttag caataaagca tttttaatga aggaatgtac
     4261 atgttttaga tataatgcta ttacacattt aacatactac atatagtgtg agcataactt
     4321 ttacacgtac tggaaaatca aaaaatatgt gtggctcatc tgttataatg tttgttttat
     4381 tgtggtgatc tggagccaag gctgaaatat ctctgaggta tgcctgtaat gtataagtgc
     4441 tagtagaaat gagttgtgca gaattgctat ttttttcaat ttttatattt gggttaatgg
     4501 taatatacta agcgtccagt ctataaactt cagcattcgt tgcgaaatcc agaggagact
     4561 tttaagtgct gttttgtaga tgaaatatga aagagaaaca agggcttaat ggtaaagatg
     4621 acatatgact atattaagaa actgaatggc cctttgtcca caaacagtaa cccacacagc
     4681 attgctactg tggcatgccc actgctctgc actgacctca tggagcagag aacctccttc
     4741 agacacctca cgcaccccct gaggagctaa tgtttcttcc caacatggaa aatttggaag
     4801 aggcctattc ttcacagctg tcacttctca ttttgaaaga atatgcccac ccttattcgc
     4861 aggcaaggtg tgaggaggtc tttgggctcc agctgttgcc agcagaggtg gtgaaagtca
     4921 acaacagggc actggacaca catagaaatg tgacccacag ctatggtttg caaatacagt
     4981 ctttcaagaa gtcctgccat gtcctaaatg cccaaacccc ttgcctccca tgattcttct
     5041 cctcaaagga ccttctgctg gacgccgccc cctccctctc cagccccacc agggccctcc
     5101 ccgccatcct cttaggccac agcagccaat aaagagtgtt tttattccat gatctgtacc
     5161 cccaatgaat ccataatcat agtttcaaat gtatttacca aaaatactaa cattatctgg
     5221 aatgaatgaa tgaatgaatg aatgaataaa tattatatat ttatacattt tcattcttcc
     5281 aaagtgaacc ccactatgcc agttttactc catactcagt gttctggaaa gcccatattc
     5341 tttctaaatt tttcagcatt tttttctatt tttgtacttt accaaaatta tttacattgg
     5401 aataaactct cttccttctg aa
//
