LOCUS       NM_000819               3318 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens phosphoribosylglycinamide formyltransferase,
            phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole
            synthetase (GART), transcript variant 1, mRNA.
ACCESSION   NM_000819
VERSION     NM_000819.5
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 3318)
  AUTHORS   Tang,C., Ke,M., Yu,X., Sun,S., Luo,X., Liu,X., Zhou,Y., Wang,Z.,
            Cui,X., Gu,C. and Yang,Y.
  TITLE     GART Functions as a Novel Methyltransferase in the
            RUVBL1/beta-Catenin Signaling Pathway to Promote Tumor Stemness in
            Colorectal Cancer
  JOURNAL   Adv Sci (Weinh) 10 (25), e2301264 (2023)
   PUBMED   37439412
  REMARK    GeneRIF: GART Functions as a Novel Methyltransferase in the
            RUVBL1/beta-Catenin Signaling Pathway to Promote Tumor Stemness in
            Colorectal Cancer.
REFERENCE   2  (bases 1 to 3318)
  AUTHORS   Kawamura,T., Takehora,Y., Hori,N., Takakura,Y., Yamaguchi,N.,
            Takano,H. and Yamaguchi,N.
  TITLE     VGLL3 increases the dependency of cancer cells on de novo
            nucleotide synthesis through GART expression
  JOURNAL   J Cell Biochem 123 (6), 1064-1076 (2022)
   PUBMED   35434822
  REMARK    GeneRIF: VGLL3 increases the dependency of cancer cells on de novo
            nucleotide synthesis through GART expression.
REFERENCE   3  (bases 1 to 3318)
  AUTHORS   Antonaros,F., Zenatelli,R., Guerri,G., Bertelli,M., Locatelli,C.,
            Vione,B., Catapano,F., Gori,A., Vitale,L., Pelleri,M.C.,
            Ramacieri,G., Cocchi,G., Strippoli,P., Caracausi,M. and Piovesan,A.
  TITLE     The transcriptome profile of human trisomy 21 blood cells
  JOURNAL   Hum Genomics 15 (1), 25 (2021)
   PUBMED   33933170
  REMARK    GeneRIF: The transcriptome profile of human trisomy 21 blood cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3318)
  AUTHORS   Jiang,Y.C., Kuang,L.L., Sun,S.N., Duan,W.Y., Qiao,B. and Wang,H.Y.
  TITLE     Association of genetic polymorphisms of de novo nucleotide
            biosynthesis with increased CHD susceptibility in the northern
            Chinese population
  JOURNAL   Clin Genet 91 (5), 748-755 (2017)
   PUBMED   27659940
  REMARK    GeneRIF: The minor A allele of rs7279549 of GART is a functional
            risk factor for congenital heart disease in Shandong population.
REFERENCE   5  (bases 1 to 3318)
  AUTHORS   Bai,J.A., Jie,H., Wei,S., Wang,S., Guo,H. and Tang,Q.
  TITLE     GART mediates the renewal of intestinal epithelial barrier via
            p38/p53/PUMA cascade in colitis
  JOURNAL   Apoptosis 21 (12), 1386-1397 (2016)
   PUBMED   27718035
  REMARK    GeneRIF: GART expression is up-regulated in patients with active
            colitis.
REFERENCE   6  (bases 1 to 3318)
  AUTHORS   Zalkin,H. and Dixon,J.E.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
REFERENCE   7  (bases 1 to 3318)
  AUTHORS   Gnirke,A., Barnes,T.S., Patterson,D., Schild,D., Featherstone,T.
            and Olson,M.V.
  TITLE     Cloning and in vivo expression of the human GART gene using yeast
            artificial chromosomes
  JOURNAL   EMBO J 10 (7), 1629-1634 (1991)
   PUBMED   2050105
REFERENCE   8  (bases 1 to 3318)
  AUTHORS   Aimi,J., Qiu,H., Williams,J., Zalkin,H. and Dixon,J.E.
  TITLE     De novo purine nucleotide biosynthesis: cloning of human and avian
            cDNAs encoding the trifunctional glycinamide ribonucleotide
            synthetase-aminoimidazole ribonucleotide synthetase-glycinamide
            ribonucleotide transformylase by functional complementation in E.
            coli
  JOURNAL   Nucleic Acids Res 18 (22), 6665-6672 (1990)
   PUBMED   2147474
REFERENCE   9  (bases 1 to 3318)
  AUTHORS   Schild,D., Brake,A.J., Kiefer,M.C., Young,D. and Barr,P.J.
  TITLE     Cloning of three human multifunctional de novo purine biosynthetic
            genes by functional complementation of yeast mutations
  JOURNAL   Proc Natl Acad Sci U S A 87 (8), 2916-2920 (1990)
   PUBMED   2183217
REFERENCE   10 (bases 1 to 3318)
  AUTHORS   Chadefaux,B., Allard,D., Rethore,M.O., Raoul,O., Poissonnier,M.,
            Gilgenkrantz,S., Cheruy,C. and Jerome,H.
  TITLE     Assignment of human phosphoribosylglycinamide synthetase locus to
            region 21q221
  JOURNAL   Hum Genet 66 (2-3), 190-192 (1984)
   PUBMED   6232198
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB236855.1, AK292897.1,
            X54199.1 and BQ010035.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000819.4.
            
            Summary: The protein encoded by this gene is a trifunctional
            polypeptide. It has phosphoribosylglycinamide formyltransferase,
            phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole
            synthetase activity which is required for de novo purine
            biosynthesis. This enzyme is highly conserved in vertebrates.
            Alternative splicing of this gene results in two transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longer protein
            (isoform 1). Variants 1, 3, and 4 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 :: SRR1660809.183700.1,
                                           SRR1660803.174459.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381815.9/ ENSP00000371236.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 DB236855.1         42-47
            7-639               AK292897.1         1-633
            640-1986            X54199.1           624-1970
            1987-3290           AK292897.1         1981-3284
            3291-3318           BQ010035.1         18-45               c
FEATURES             Location/Qualifiers
     source          1..3318
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..3318
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="phosphoribosylglycinamide formyltransferase,
                     phosphoribosylglycinamide synthetase,
                     phosphoribosylaminoimidazole synthetase"
                     /db_xref="GeneID:2618"
                     /db_xref="HGNC:HGNC:4163"
                     /db_xref="MIM:138440"
     exon            1..53
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            54..239
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..3127
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /EC_number="2.1.2.2"
                     /EC_number="6.3.3.1"
                     /EC_number="6.3.4.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     trifunctional purine biosynthetic protein adenosine-3;
                     glycinamide ribonucleotide formyltransferase;
                     GARS-AIRS-GART; GAR transformylase; glycinamide
                     ribonucleotide synthetase-aminoimidazole ribonucleotide
                     synthetase-glycinamide ribonucleotide transformylase"
                     /codon_start=1
                     /product="trifunctional purine biosynthetic protein
                     adenosine-3 isoform 1"
                     /protein_id="NP_000810.1"
                     /db_xref="CCDS:CCDS13627.1"
                     /db_xref="GeneID:2618"
                     /db_xref="HGNC:HGNC:4163"
                     /db_xref="MIM:138440"
                     /translation="MAARVLIIGSGGREHTLAWKLAQSHHVKQVLVAPGNAGTACSEK
                     ISNTAISISDHTALAQFCKEKKIEFVVVGPEAPLAAGIVGNLRSAGVQCFGPTAEAAQ
                     LESSKRFAKEFMDRHGIPTAQWKAFTKPEEACSFILSADFPALVVKASGLAAGKGVIV
                     AKSKEEACKAVQEIMQEKAFGAAGETIVIEELLDGEEVSCLCFTDGKTVAPMPPAQDH
                     KRLLEGDGGPNTGGMGAYCPAPQVSNDLLLKIKDTVLQRTVDGMQQEGTPYTGILYAG
                     IMLTKNGPKVLEFNCRFGDPECQVILPLLKSDLYEVIQSTLDGLLCTSLPVWLENHTA
                     LTVVMASKGYPGDYTKGVEITGFPEAQALGLEVFHAGTALKNGKVVTHGGRVLAVTAI
                     RENLISALEEAKKGLAAIKFEGAIYRKDVGFRAIAFLQQPRSLTYKESGVDIAAGNML
                     VKKIQPLAKATSRSGCKVDLGGFAGLFDLKAAGFKDPLLASGTDGVGTKLKIAQLCNK
                     HDTIGQDLVAMCVNDILAQGAEPLFFLDYFSCGKLDLSVTEAVVAGIAKACGKAGCAL
                     LGGETAEMPDMYPPGEYDLAGFAVGAMERDQKLPHLERITEGDVVVGIASSGLHSNGF
                     SLVRKIVAKSSLQYSSPAPDGCGDQTLGDLLLTPTRIYSHSLLPVLRSGHVKAFAHIT
                     GGGLLENIPRVLPEKLGVDLDAQTWRIPRVFSWLQQEGHLSEEEMARTFNCGVGAVLV
                     VSKEQTEQILRDIQQHKEEAWVIGSVVARAEGSPRVKVKNLIESMQINGSVLKNGSLT
                     NHFSFEKKKARVAVLISGTGSNLQALIDSTREPNSSAQIDIVISNKAAVAGLDKAERA
                     GIPTRVINHKLYKNRVEFDSAIDLVLEEFSIDIVCLAGFMRILSGPFVQKWNGKMLNI
                     HPSLLPSFKGSNAHEQALETGVTVTGCTVHFVAEDVDAGQIILQEAVPVKRGDTVATL
                     SERVKLAEHKIFPAALQLVASGTVQLGENGKICWVKEE"
     exon            240..335
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            336..510
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            511..622
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            623..691
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            692..817
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            818..905
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            906..991
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1160
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1392
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1487
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1597
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1598..1796
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1797..2048
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            2049..2201
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            2202..2408
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            2409..2546
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            2547..2677
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            2678..2819
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            2820..2935
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     exon            2936..3318
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3271..3276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="hexamer: AATAGA"
     regulatory      3288..3293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="hexamer: AACAAG"
     polyA_site      3292
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
                     /note="major polyA site"
     polyA_site      3318
                     /gene="GART"
                     /gene_synonym="AIRS; GARS; GARTF; PAIS; PGFT; PRGS"
ORIGIN      
        1 gggccgactt ccggcgagcg ggcaagcggg aaccaggtgg ccacccggtg tcggtttcat
       61 tttcctttgg aatttctgct ttacagacag aacaatggca gcccgagtac ttataattgg
      121 cagtggagga agggaacata cgctggcctg gaaacttgca cagtctcatc atgtcaaaca
      181 agtgttggtt gccccaggaa acgcaggcac tgcctgctct gaaaagattt caaataccgc
      241 catctcaatc agtgaccaca ctgcccttgc tcaattctgc aaagagaaga aaattgaatt
      301 tgtagttgtt ggaccagaag cacctctggc tgctgggatt gttgggaacc tgaggtctgc
      361 aggagtgcaa tgctttggcc caacagcaga agcggctcag ttagagtcca gcaaaaggtt
      421 tgccaaagag tttatggaca gacatggaat cccaaccgca caatggaagg ctttcaccaa
      481 acctgaagaa gcctgcagct tcattttgag tgcagacttc cctgctttgg ttgtgaaggc
      541 cagtggtctt gcagctggaa aaggggtgat tgttgcaaag agcaaagaag aggcctgcaa
      601 agctgtacaa gagatcatgc aggagaaagc ctttggggca gctggagaaa caattgtcat
      661 tgaagaactt cttgacggag aagaggtgtc gtgtctgtgt ttcactgatg gcaagactgt
      721 ggcccccatg cccccagcac aggaccataa gcgattactg gagggagatg gtggccctaa
      781 cacaggggga atgggagcct attgtccagc ccctcaggtt tctaatgatc tattactaaa
      841 aattaaagat actgttcttc agaggacagt ggatggcatg cagcaagagg gtactccata
      901 tacaggtatt ctctatgctg gaataatgct gaccaagaat ggcccaaaag ttctagagtt
      961 taattgccgt tttggtgatc cagagtgcca agtaatcctc ccacttctta aaagtgatct
     1021 ttatgaagtg attcagtcca ccttagatgg actgctctgc acatctctgc ctgtttggct
     1081 agaaaaccac accgccctaa ctgttgtcat ggcaagtaaa ggttatcctg gagactacac
     1141 caagggtgta gagataacag ggtttcctga ggctcaagct ctaggactgg aggtgttcca
     1201 tgcaggcact gccctcaaaa atggcaaagt agtaactcat gggggtagag ttcttgcagt
     1261 cacagccatc cgggaaaatc tcatatcagc ccttgaggaa gccaagaaag gactagctgc
     1321 tataaagttt gagggagcaa tttataggaa agacgtcggc tttcgtgcca tagctttcct
     1381 ccagcagccc aggagtttga cttacaagga atctggagta gatatcgcag ctggaaatat
     1441 gctggtcaag aaaattcagc ctttagcaaa agccacttcc agatcaggct gtaaagttga
     1501 tcttggaggt tttgctggtc tttttgattt aaaagcagct ggtttcaaag atccccttct
     1561 ggcctctgga acagatggcg ttggaactaa actaaagatt gcccagctat gcaataaaca
     1621 tgataccatt ggtcaagatt tggtagcaat gtgtgttaat gatattctgg cacaaggagc
     1681 agagcccctc ttcttccttg attacttttc ctgtggaaaa cttgacctca gtgtaactga
     1741 agctgttgtt gctggaattg ctaaagcttg tggaaaagct ggatgtgctc tccttggagg
     1801 tgaaacagca gaaatgcctg acatgtatcc ccctggagag tatgacctag ctgggtttgc
     1861 cgttggtgcc atggagcgag atcagaaact ccctcacctg gaaagaatca ctgagggtga
     1921 tgttgttgtt ggaatagctt catctggtct tcatagcaat ggatttagcc ttgtgaggaa
     1981 aatcgtggca aaatcttccc tccagtactc ctctccagca cctgatggtt gtggtgacca
     2041 gactttaggg gacttacttc tcacgcctac cagaatctac agccattcac tgttacctgt
     2101 cctacgttca ggacatgtca aagcctttgc ccatattact ggtggaggat tactagagaa
     2161 catccccaga gtcctccctg agaaacttgg ggtagattta gatgcccaga cctggaggat
     2221 ccccagggtc ttctcatggt tgcagcagga aggacacctc tctgaggaag agatggccag
     2281 aacatttaac tgtggggttg gcgctgtcct tgtggtatca aaggagcaga cagagcagat
     2341 tctgagggat atccagcagc acaaggaaga agcctgggtg attggcagtg tggttgcacg
     2401 agctgaaggt tccccacgtg tgaaagtcaa gaatctgatt gaaagcatgc aaataaatgg
     2461 gtcagtgttg aagaatggct ccctgacaaa tcatttctct tttgaaaaaa aaaaggccag
     2521 agtggctgtc ttaatatctg gaacaggatc gaacctgcaa gcacttatag acagtactcg
     2581 ggaaccaaat agctctgcac aaattgatat tgttatctcc aacaaagccg cagtagctgg
     2641 gttagataaa gcggaaagag ctggtattcc cactagagta attaatcata aactgtataa
     2701 aaatcgtgta gaatttgaca gtgcaattga cctagtcctt gaagagttct ccatagacat
     2761 agtctgtctt gcaggattca tgagaattct ttctggcccc tttgtccaaa agtggaatgg
     2821 aaaaatgctc aatatccacc catccttgct cccttctttt aagggttcaa atgcccatga
     2881 gcaagccctg gaaaccggag tcacagttac tgggtgcact gtacactttg tagctgaaga
     2941 tgtggatgct ggacagatta ttttgcaaga agctgttccc gtgaagaggg gtgatactgt
     3001 cgcaactctt tctgaaagag taaaattagc agaacataaa atatttcctg cagcccttca
     3061 gctggtggcc agtggaactg tacagcttgg agaaaatggc aagatctgtt gggttaaaga
     3121 ggaatgaagc cttttaattc agaaatgggg ccagtttaga aagaattatt tgctgtttgc
     3181 atggtggttt tttatcatgg acttggccca aaagaaaaac tgctaaaaga caaaaaagac
     3241 ctcaccctta cttcatctat ttttttaata aatagagact cactaaaaac aagactagtt
     3301 agtgcagcat atctgaga
//
