LOCUS       NM_005600               1485 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNA.
ACCESSION   NM_005600
VERSION     NM_005600.3
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 1485)
  AUTHORS   Rutten,J.W., Cerfontaine,M.N., Dijkstra,K.L., Mulder,A.A.,
            Vreijling,J., Kruit,M., Koning,R.I., de Bot,S.T., van
            Nieuwenhuizen,K.M., Baelde,H.J., Berendse,H.W., Mei,L.H.,
            Ruijter,G.J.G., Baas,F., Jost,C.R., van Duinen,S.G.,
            Nibbeling,E.A.R., Gravesteijn,G. and Lesnik Oberstein,S.A.J.
  TITLE     Bi-allelic NIT1 variants cause a brain small vessel disease
            characterized by movement disorders, massively dilated perivascular
            spaces, and intracerebral hemorrhage
  JOURNAL   Genet Med 26 (6), 101105 (2024)
   PUBMED   38430071
  REMARK    GeneRIF: Bi-allelic NIT1 variants cause a brain small vessel
            disease characterized by movement disorders, massively dilated
            perivascular spaces, and intracerebral hemorrhage.
REFERENCE   2  (bases 1 to 1485)
  AUTHORS   Mittag,S., Wetzel,F., Muller,S.Y. and Huber,O.
  TITLE     The Rosetta Stone Hypothesis-Based Interaction of the Tumor
            Suppressor Proteins Nit1 and Fhit
  JOURNAL   Cells 12 (3), 353 (2023)
   PUBMED   36766695
  REMARK    GeneRIF: The Rosetta Stone Hypothesis-Based Interaction of the
            Tumor Suppressor Proteins Nit1 and Fhit.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1485)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 1485)
  AUTHORS   Lin,C., Zhang,J., Lu,Y., Li,X., Zhang,W., Zhang,W., Lin,W.,
            Zheng,L. and Li,X.
  TITLE     NIT1 suppresses tumour proliferation by activating the
            TGFbeta1-Smad2/3 signalling pathway in colorectal cancer
  JOURNAL   Cell Death Dis 9 (3), 263 (2018)
   PUBMED   29449642
  REMARK    GeneRIF: NIT1 suppresses colorectal cancer cell proliferation
            through a positive feedback loop between NIT1 and activation of the
            TGFbeta-Smad2/3 signalling pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1485)
  AUTHORS   Wang,Y.A., Sun,Y., Le Blanc,J.M., Solomides,C., Zhan,T. and Lu,B.
  TITLE     Nitrilase 1 modulates lung tumor progression in vitro and in vivo
  JOURNAL   Oncotarget 7 (16), 21381-21392 (2016)
   PUBMED   26967383
  REMARK    GeneRIF: Data show that cisplatin response was enhanced in human
            lung cancer cells when Nit1 was knocked down and mice
            Nit1-/-:KrasG12D/+ tumors showed increased sensitivity to cisplatin
            in vivo.
REFERENCE   6  (bases 1 to 1485)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   7  (bases 1 to 1485)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1485)
  AUTHORS   Semba,S., Han,S.Y., Qin,H.R., McCorkell,K.A., Iliopoulos,D.,
            Pekarsky,Y., Druck,T., Trapasso,F., Croce,C.M. and Huebner,K.
  TITLE     Biological functions of mammalian Nit1, the counterpart of the
            invertebrate NitFhit Rosetta stone protein, a possible tumor
            suppressor
  JOURNAL   J Biol Chem 281 (38), 28244-28253 (2006)
   PUBMED   16864578
  REMARK    GeneRIF: Nit1 and Fhit share tumor suppressor signaling pathways,
            while localization of the NIT1 gene at a stable chromosome site
            explains the paucity of gene alterations and in frequent loss of
            expression of the NIT1 gene in human malignancies.
REFERENCE   9  (bases 1 to 1485)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10 (bases 1 to 1485)
  AUTHORS   Pekarsky,Y., Campiglio,M., Siprashvili,Z., Druck,T., Sedkov,Y.,
            Tillib,S., Draganescu,A., Wermuth,P., Rothman,J.H., Huebner,K.,
            Buchberg,A.M., Mazo,A., Brenner,C. and Croce,C.M.
  TITLE     Nitrilase and Fhit homologs are encoded as fusion proteins in
            Drosophila melanogaster and Caenorhabditis elegans
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8744-8749 (1998)
   PUBMED   9671749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB111935.1, AF069987.1 and
            BQ002524.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005600.2.
            
            Summary: This gene encodes a member of the nitrilase protein family
            with homology to bacterial and plant nitrilases, enzymes that
            cleave nitriles and organic amides to the corresponding carboxylic
            acids plus ammonia. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jun
            2010].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the longest isoform (1).
            
            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 :: SRR3476690.542078.1,
                                           SRR1660807.142313.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368009.7/ ENSP00000356988.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                CB111935.1         34-48
            16-1358             AF069987.1         20-1362
            1359-1485           BQ002524.1         18-144              c
FEATURES             Location/Qualifiers
     source          1..1485
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..1485
                     /gene="NIT1"
                     /note="nitrilase 1"
                     /db_xref="GeneID:4817"
                     /db_xref="HGNC:HGNC:7828"
                     /db_xref="MIM:604618"
     exon            1..74
                     /gene="NIT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1056
                     /gene="NIT1"
                     /EC_number="3.5.1.128"
                     /note="isoform 1 is encoded by transcript variant 1; dGSH
                     amidase; deaminated glutathione amidase"
                     /codon_start=1
                     /product="deaminated glutathione amidase isoform 1"
                     /protein_id="NP_005591.1"
                     /db_xref="CCDS:CCDS1218.1"
                     /db_xref="GeneID:4817"
                     /db_xref="HGNC:HGNC:7828"
                     /db_xref="MIM:604618"
                     /translation="MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQPRPRAMAISSSSC
                     ELPLVAVCQVTSTPDKQQNFKTCAELVREAARLGACLAFLPEAFDFIARDPAETLHLS
                     EPLGGKLLEEYTQLARECGLWLSLGGFHERGQDWEQTQKIYNCHVLLNSKGAVVATYR
                     KTHLCDVEIPGQGPMCESNSTMPGPSLESPVSTPAGKIGLAVCYDMRFPELSLALAQA
                     GAEILTYPSAFGSITGPAHWEVLLRARAIETQCYVVAAAQCGRHHEKRASYGHSMVVD
                     PWGTVVARCSEGPGLCLARIDLNYLRQLRRHLPVFQHRRPDLYGNLGHPLS"
     exon            75..170
                     /gene="NIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            171..425
                     /gene="NIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            426..529
                     /gene="NIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            530..663
                     /gene="NIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            664..789
                     /gene="NIT1"
                     /inference="alignment:Splign:2.1.0"
     exon            790..1485
                     /gene="NIT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1339..1344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIT1"
                     /note="hexamer: AATATA"
     polyA_site      1360
                     /gene="NIT1"
                     /note="major polyA site"
     regulatory      1467..1472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIT1"
                     /note="hexamer: AATAAA"
     polyA_site      1485
                     /gene="NIT1"
                     /note="major polyA site"
ORIGIN      
        1 actcgctgcg gcgcttctgg ctccagaccg ccctccggat cggaccctgc gaatggtttt
       61 ggctatatct tcatgctggg cttcatcacc aggcctcctc acagattcct gtcccttctg
      121 tgtcctggac tccggatacc tcaactctca gtactttgtg ctcagcccag gcccagagcc
      181 atggctatct cctcttcctc ctgcgaactg cccctggtgg ctgtgtgcca ggtaacatcg
      241 acgccagaca agcaacagaa ctttaaaaca tgtgctgagc tggttcgaga ggctgccaga
      301 ctgggtgcct gcctggcttt cctgcctgag gcatttgact tcattgcacg ggaccctgca
      361 gagacgctac acctgtctga accactgggt gggaaacttt tggaagaata cacccagctt
      421 gccagggaat gtggactctg gctgtccttg ggtggtttcc atgagcgtgg ccaagactgg
      481 gagcagactc agaaaatcta caattgtcac gtgctgctga acagcaaagg ggcagtagtg
      541 gccacttaca ggaagacaca tctgtgtgac gtagagattc cagggcaggg gcctatgtgt
      601 gaaagcaact ctaccatgcc tgggcccagt cttgagtcac ctgtcagcac accagcaggc
      661 aagattggtc tagctgtctg ctatgacatg cggttccctg aactctctct ggcattggct
      721 caagctggag cagagatact tacctatcct tcagcttttg gatccattac aggcccagcc
      781 cactgggagg tgttgctgcg ggcccgtgct atcgaaaccc agtgctatgt agtggcagca
      841 gcacagtgtg gacgccacca tgagaagaga gcaagttatg gccacagcat ggtggtagac
      901 ccctggggaa cagtggtggc ccgctgctct gaggggccag gcctctgcct tgcccgaata
      961 gacctcaact atctgcgaca gttgcgccga cacctgcctg tgttccagca ccgcaggcct
     1021 gacctctatg gcaatctggg tcacccactg tcttaagact tgacttctgt gagtttagac
     1081 ctgcccctcc cacccccacc ctgccactat gagctagtgc tcatgtgact tggaggcagg
     1141 atccaggcac agctcccctc acttggagaa ccttgactct cttgatggaa cacagatggg
     1201 ctgcttggga aagaaacttt cacctgagct tcacctgagg tcagactgca gtttcagaaa
     1261 ggtggaattt tatatagtca ttgtttattt catggaaact gaagttctgc tgagggctga
     1321 gcagcactgg cattgaaaaa tataataatc ataaagtctg tgtctggaca tcgcctttgg
     1381 gaactagaag gggagttggt attgtaccag ctggactaag ctccagttct agacctcctg
     1441 gctcattcaa catgcctccc tacctaaata aaagtgcaac actca
//
