LOCUS       NM_001198897            1227 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens aminoacylase 1 (ACY1), transcript variant 4, mRNA.
ACCESSION   NM_001198897
VERSION     NM_001198897.2
KEYWORDS    RefSeq.
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 1227)
  AUTHORS   Wang,G., Li,H. and Hou,Y.
  TITLE     LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by
            regulating ACY1 via interacting with transcription factor HEY1 in
            clear cell renal cell carcinoma
  JOURNAL   Cancer Gene Ther 29 (5), 585-596 (2022)
   PUBMED   34002044
  REMARK    GeneRIF: LncRNA MAGI2-AS3 inhibits tumor progression and
            angiogenesis by regulating ACY1 via interacting with transcription
            factor HEY1 in clear cell renal cell carcinoma.
REFERENCE   2  (bases 1 to 1227)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1227)
  AUTHORS   Chen,Z., Gao,J., Sun,J., Wu,Z. and Wang,B.
  TITLE     Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of
            Neuroblastoma Cells in Humans Through the ERK/Transforming Growth
            Factor beta (TGF-beta) Signaling Pathways
  JOURNAL   Med Sci Monit 27, e928813 (2021)
   PUBMED   33619241
  REMARK    GeneRIF: Aminoacylase 1 (ACY-1) Mediates the Proliferation and
            Migration of Neuroblastoma Cells in Humans Through the
            ERK/Transforming Growth Factor beta (TGF-beta) Signaling Pathways.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1227)
  AUTHORS   Sass,J.O., Mohr,V., Olbrich,H., Engelke,U., Horvath,J.,
            Fliegauf,M., Loges,N.T., Schweitzer-Krantz,S., Moebus,R.,
            Weiler,P., Kispert,A., Superti-Furga,A., Wevers,R.A. and Omran,H.
  TITLE     Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel
            inborn error of metabolism
  JOURNAL   Am J Hum Genet 78 (3), 401-409 (2006)
   PUBMED   16465618
  REMARK    GeneRIF: Genetic deficiency of ACY1 leads to functional ACY1
            deficiency and excretion of N-acetylated amino acids.
REFERENCE   5  (bases 1 to 1227)
  AUTHORS   Van Coster,R.N., Gerlo,E.A., Giardina,T.G., Engelke,U.F.,
            Smet,J.E., De Praeter,C.M., Meersschaut,V.A., De Meirleir,L.J.,
            Seneca,S.H., Devreese,B., Leroy,J.G., Herga,S., Perrier,J.P.,
            Wevers,R.A. and Lissens,W.
  TITLE     Aminoacylase I deficiency: a novel inborn error of metabolism
  JOURNAL   Biochem Biophys Res Commun 338 (3), 1322-1326 (2005)
   PUBMED   16274666
  REMARK    GeneRIF: first report of a patient with aminoacylase I deficiency
REFERENCE   6  (bases 1 to 1227)
  AUTHORS   Mitta,M., Kato,I. and Tsunasawa,S.
  TITLE     The nucleotide sequence of human aminoacylase-1
  JOURNAL   Biochim Biophys Acta 1174 (2), 201-203 (1993)
   PUBMED   8357837
REFERENCE   7  (bases 1 to 1227)
  AUTHORS   Cook,R.M., Burke,B.J., Buchhagen,D.L., Minna,J.D. and Miller,Y.E.
  TITLE     Human aminoacylase-1. Cloning, sequence, and expression analysis of
            a chromosome 3p21 gene inactivated in small cell lung cancer
  JOURNAL   J Biol Chem 268 (23), 17010-17017 (1993)
   PUBMED   8394326
REFERENCE   8  (bases 1 to 1227)
  AUTHORS   Miller,Y.E., Drabkin,H., Jones,C. and Fisher,J.H.
  TITLE     Human aminoacylase-1: cloning, regional assignment to distal
            chromosome 3p21.1, and identification of a cross-hybridizing
            sequence on chromosome 18
  JOURNAL   Genomics 8 (1), 149-154 (1990)
   PUBMED   1707030
REFERENCE   9  (bases 1 to 1227)
  AUTHORS   Miller,Y.E., Minna,J.D. and Gazdar,A.F.
  TITLE     Lack of expression of aminoacylase-1 in small cell lung cancer.
            Evidence for inactivation of genes encoded by chromosome 3p
  JOURNAL   J Clin Invest 83 (6), 2120-2124 (1989)
   PUBMED   2542383
REFERENCE   10 (bases 1 to 1227)
  AUTHORS   Naylor,S.L., Shows,T.B. and Klebe,R.J.
  TITLE     Bioautographic visualization of aminoacylase-1: assignment of the
            structural gene ACY-1 to chromosome 3 in man
  JOURNAL   Somatic Cell Genet 5 (1), 11-21 (1979)
   PUBMED   373141
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD014026.1.
            
            On May 31, 2019 this sequence version replaced NM_001198897.1.
            
            Summary: This gene encodes a cytosolic, homodimeric, zinc-binding
            enzyme that catalyzes the hydrolysis of acylated L-amino acids to
            L-amino acids and an acyl group, and has been postulated to
            function in the catabolism and salvage of acylated amino acids.
            This gene is located on chromosome 3p21.1, a region reduced to
            homozygosity in small-cell lung cancer (SCLC), and its expression
            has been reported to be reduced or undetectable in SCLC cell lines
            and tumors. The amino acid sequence of human aminoacylase-1 is
            highly homologous to the porcine counterpart, and this enzyme is
            the first member of a new family of zinc-binding enzymes. Mutations
            in this gene cause aminoacylase-1 deficiency, a metabolic disorder
            characterized by central nervous system defects and increased
            urinary excretion of N-acetylated amino acids. Alternative splicing
            of this gene results in multiple transcript variants. Read-through
            transcription also exists between this gene and the upstream
            ABHD14A (abhydrolase domain containing 14A) gene, as represented in
            GeneID:100526760. A related pseudogene has been identified on
            chromosome 18. [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (4) lacks two alternate exons,
            resulting in the loss of an in-frame segment in the central coding
            region, compared to variant 1. The encoded isoform (c) is shorter
            than isoform a.
            
            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 :: CD014026.1, DRR138517.585577.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1227              CD014026.1         93-1319
FEATURES             Location/Qualifiers
     source          1..1227
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     gene            1..1227
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /note="aminoacylase 1"
                     /db_xref="GeneID:95"
                     /db_xref="HGNC:HGNC:177"
                     /db_xref="MIM:104620"
     exon            1..55
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            56..167
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..1105
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /EC_number="3.5.1.14"
                     /note="isoform c is encoded by transcript variant 4;
                     acylase; N-acyl-L-amino-acid amidohydrolase; epididymis
                     secretory protein Li 5"
                     /codon_start=1
                     /product="aminoacylase-1 isoform c"
                     /protein_id="NP_001185826.1"
                     /db_xref="CCDS:CCDS56262.1"
                     /db_xref="GeneID:95"
                     /db_xref="HGNC:HGNC:177"
                     /db_xref="MIM:104620"
                     /translation="MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGAAVAFFEETARQ
                     LGLGCQKVEVAPGYVVTVLTWPGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFKDS
                     EGYIYARGAQDMKCVSIQYLEAVRRLKVEGHRFPRTIHMTFVPDEEVGGHQGMELFVQ
                     RPEFHALRAGFALDEGIANPTDAFTVFYSERSPWWVRVTSTGRPGHASRFMEDTAAEK
                     LAFEEQLQSWCQAAGEGVTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEPE
                     IMPAATDNRYIRAVGVPALGFSPMNRTPVLLHDHDERLHEAVFLRGVDIYTRLLPALA
                     SVPALPSDS"
     exon            168..232
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            233..337
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            338..432
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            433..509
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            510..599
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            600..656
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            657..730
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            731..799
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            800..879
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            880..940
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1227
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1185..1190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /note="hexamer: AATAAA"
     polyA_site      1227
                     /gene="ACY1"
                     /gene_synonym="ACY-1; ACY1D; HEL-S-5"
                     /note="major polyA site"
ORIGIN      
        1 acagtcaggg aagggcgctg agaggcgagc gtgagcccag cgacaggaga gtgagctcac
       61 cacgcgcagc gccatgacca gcaagggtcc cgaggaggag cacccatcgg tgacgctctt
      121 ccgccagtac ctgcgtatcc gcactgtcca gcccaagcct gactatggag ctgctgtggc
      181 tttctttgag gagacagccc gccagctggg cctgggctgt cagaaagtag aggtggcacc
      241 tggctatgtg gtgaccgtgt tgacctggcc aggcaccaac cctacactct cctccatctt
      301 gctcaactcc cacacggatg tggtgcctgt cttcaaggaa cattggagtc acgacccctt
      361 tgaggccttc aaggattctg agggctacat ctatgccagg ggtgcccagg acatgaagtg
      421 cgtcagcatc cagtacctgg aagctgtgag gaggctgaag gtggagggcc accggttccc
      481 cagaaccatc cacatgacct ttgtgcctga tgaggaggtt gggggtcacc aaggcatgga
      541 gctgttcgtg cagcggcctg agttccacgc cctgagggca ggctttgccc tggatgaggg
      601 catagccaat cccactgatg ccttcactgt cttttatagt gagcggagtc cctggtgggt
      661 gcgggttacc agcactggga ggccaggcca tgcctcacgc ttcatggagg acacagcagc
      721 agagaagctg gcttttgagg agcagctgca gagctggtgc caggcagctg gcgagggggt
      781 caccctagag tttgctcaga agtggatgca cccccaagtg acacctactg atgactcaaa
      841 cccttggtgg gcagctttta gccgggtctg caaggatatg aacctcactc tggagcctga
      901 gatcatgcct gctgccactg acaaccgcta tatccgcgcg gtgggggtcc cagctctagg
      961 cttctcaccc atgaaccgca cacctgtgct gctgcacgac cacgatgaac ggctgcatga
     1021 ggctgtgttc ctccgtgggg tggacatata tacacgcctg ctgcctgccc ttgccagtgt
     1081 gcctgccctg cccagtgaca gctgagccct ggaactccta aacctttgcc cctggggctt
     1141 ccatcccaac cagtgccaag gacctcctct tcccccttcc aaataataaa gtctatggac
     1201 agggctgtct ctgaagtact aacacaa
//
