LOCUS       NM_001905               2840 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens CTP synthase 1 (CTPS1), transcript variant 1, mRNA.
ACCESSION   NM_001905
VERSION     NM_001905.4
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 2840)
  AUTHORS   Ma,S. and Pu,C.
  TITLE     MiR-519e-5p regulates malignant phenotype of breast cancer cells
            through binding to CTPS1
  JOURNAL   Exp Cell Res 442 (2), 114225 (2024)
   PUBMED   39197579
  REMARK    GeneRIF: MiR-519e-5p regulates malignant phenotype of breast cancer
            cells through binding to CTPS1.
REFERENCE   2  (bases 1 to 2840)
  AUTHORS   Nakasuka,F., Hirayama,A., Makinoshima,H., Yano,S., Soga,T. and
            Tabata,S.
  TITLE     The role of cytidine 5'-triphosphate synthetase 1 in metabolic
            rewiring during epithelial-to-mesenchymal transition in
            non-small-cell lung cancer
  JOURNAL   FEBS Open Bio 14 (9), 1570-1583 (2024)
   PUBMED   39030877
  REMARK    GeneRIF: The role of cytidine 5'-triphosphate synthetase 1 in
            metabolic rewiring during epithelial-to-mesenchymal transition in
            non-small-cell lung cancer.
REFERENCE   3  (bases 1 to 2840)
  AUTHORS   Wu,F., Mao,Y., Ma,T., Wang,X., Wei,H., Wang,T., Wang,J. and
            Zhang,Y.
  TITLE     CTPS1 inhibition suppresses proliferation and migration in
            colorectal cancer cells
  JOURNAL   Cell Cycle 21 (24), 2563-2574 (2022)
   PUBMED   35912542
  REMARK    GeneRIF: CTPS1 inhibition suppresses proliferation and migration in
            colorectal cancer cells.
REFERENCE   4  (bases 1 to 2840)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 2840)
  AUTHORS   Verschuur,A.C., Van Gennip,A.H., Muller,E.J., Voute,P.A., Vreken,P.
            and Van Kuilenburg,A.B.
  TITLE     Cytidine triphosphate synthase activity and mRNA expression in
            normal human blood cells
  JOURNAL   Biol Chem 380 (1), 41-46 (1999)
   PUBMED   10064135
REFERENCE   6  (bases 1 to 2840)
  AUTHORS   Whelan,J., Phear,G., Yamauchi,M. and Meuth,M.
  TITLE     Clustered base substitutions in CTP synthetase conferring drug
            resistance in Chinese hamster ovary cells
  JOURNAL   Nat Genet 3 (4), 317-322 (1993)
   PUBMED   7981751
REFERENCE   7  (bases 1 to 2840)
  AUTHORS   Yamauchi,M., Yamauchi,N., Phear,G., Spurr,N.K., Martinsson,T.,
            Weith,A. and Meuth,M.
  TITLE     Genomic organization and chromosomal localization of the human CTP
            synthetase gene (CTPS)
  JOURNAL   Genomics 11 (4), 1088-1096 (1991)
   PUBMED   1783378
REFERENCE   8  (bases 1 to 2840)
  AUTHORS   Takahashi,E., Yamauchi,M., Tsuji,H., Hitomi,A., Meuth,M. and
            Hori,T.
  TITLE     Chromosome mapping of the human cytidine-5'-triphosphate synthetase
            (CTPS) gene to band 1p34.1-p34.3 by fluorescence in situ
            hybridization
  JOURNAL   Hum Genet 88 (1), 119-121 (1991)
   PUBMED   1959918
REFERENCE   9  (bases 1 to 2840)
  AUTHORS   Yamauchi,M., Yamauchi,N. and Meuth,M.
  TITLE     Molecular cloning of the human CTP synthetase gene by functional
            complementation with purified human metaphase chromosomes
  JOURNAL   EMBO J 9 (7), 2095-2099 (1990)
   PUBMED   2113467
REFERENCE   10 (bases 1 to 2840)
  AUTHORS   Thomas,P.E., Lamb,B.J. and Chu,E.H.
  TITLE     Purification of cytidine-triphosphate synthetase from rat liver,
            and demonstration of monomer, dimer and tetramer
  JOURNAL   Biochim Biophys Acta 953 (3), 334-344 (1988)
   PUBMED   3355843
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ642049.1, BC009408.1,
            X52142.1 and AI190299.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 31, 2018 this sequence version replaced NM_001905.3.
            
            Summary: This gene encodes an enzyme responsible for the catalytic
            conversion of UTP (uridine triphosphate) to CTP (cytidine
            triphospate). This reaction is an important step in the
            biosynthesis of phospholipids and nucleic acids. Activity of this
            proten is important in the immune system, and loss of function of
            this gene has been associated with immunodeficiency. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR11853563.818.1, BC009408.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650070.2/ ENSP00000497602.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-134               BQ642049.1         362-495
            135-1858            BC009408.1         139-1862
            1859-1859           X52142.1           1787-1787
            1860-2838           BC009408.1         1864-2842
            2839-2840           AI190299.1         12-13               c
FEATURES             Location/Qualifiers
     source          1..2840
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2840
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /note="CTP synthase 1"
                     /db_xref="GeneID:1503"
                     /db_xref="HGNC:HGNC:2519"
                     /db_xref="MIM:123860"
     exon            1..134
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            135..313
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..1923
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /EC_number="6.3.4.2"
                     /note="isoform a is encoded by transcript variant 1;
                     cytidine 5-prime triphosphate synthetase; cytidine
                     5'-triphosphate synthetase; CTP synthetase 1; UTP--ammonia
                     ligase 1"
                     /codon_start=1
                     /product="CTP synthase 1 isoform a"
                     /protein_id="NP_001896.2"
                     /db_xref="CCDS:CCDS459.1"
                     /db_xref="GeneID:1503"
                     /db_xref="HGNC:HGNC:2519"
                     /db_xref="MIM:123860"
                     /translation="MKYILVTGGVISGIGKGIIASSVGTILKSCGLHVTSIKIDPYIN
                     IDAGTFSPYEHGEVFVLDDGGEVDLDLGNYERFLDIRLTKDNNLTTGKIYQYVINKER
                     KGDYLGKTVQVVPHITDAIQEWVMRQALIPVDEDGLEPQVCVIELGGTVGDIESMPFI
                     EAFRQFQFKVKRENFCNIHVSLVPQPSSTGEQKTKPTQNSVRELRGLGLSPDLVVCRC
                     SNPLDTSVKEKISMFCHVEPEQVICVHDVSSIYRVPLLLEEQGVVDYFLRRLDLPIER
                     QPRKMLMKWKEMADRYDRLLETCSIALVGKYTKFSDSYASVIKALEHSALAINHKLEI
                     KYIDSADLEPITSQEEPVRYHEAWQKLCSAHGVLVPGGFGVRGTEGKIQAIAWARNQK
                     KPFLGVCLGMQLAVVEFSRNVLGWQDANSTEFDPTTSHPVVVDMPEHNPGQMGGTMRL
                     GKRRTLFQTKNSVMRKLYGDADYLEERHRHRFEVNPVWKKCLEEQGLKFVGQDVEGER
                     MEIVELEDHPFFVGVQYHPEFLSRPIKPSPPYFGLLLASVGRLSHYLQKGCRLSPRDT
                     YSDRSGSSSPDSEITELKFPSINHD"
     exon            314..484
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            485..585
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            586..702
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            703..786
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            787..867
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            868..1019
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1152
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1241
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1336
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1399
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1443
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1540
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1596
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..1693
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1694..1838
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..1932
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     exon            1933..2840
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2814..2819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /note="hexamer: AATAAA"
     polyA_site      2838
                     /gene="CTPS1"
                     /gene_synonym="CTPS; GATD5; GATD5A; IMD24"
                     /note="major polyA site"
ORIGIN      
        1 gcacagccta gagcccgcct ccgtgaaaga ctgccgggcg catgcggtcg gggttgttca
       61 ctggctgtcc ggggctccgc gcgcgtcgcc ggcccagctc tgtcgctgac gggaggatct
      121 gaagccggcc gcaggtcaaa gagtaaaatg aagtacattc tggttactgg tggtgttata
      181 tcaggaattg gaaaaggaat cattgccagc agtgtgggca caatactcaa gtcatgtggt
      241 ttacatgtaa cttcaatcaa aattgacccc tacattaaca ttgatgcagg aacattctct
      301 ccttatgagc atggtgaggt ttttgtgctg gatgatggtg gggaagtaga ccttgacctg
      361 ggtaactatg agcggttcct tgacatccgc ctcaccaagg acaataatct gaccactgga
      421 aagatatacc agtatgtcat taacaaggaa cggaaaggag attacttggg gaaaactgtc
      481 caagttgtcc ctcatatcac agatgcaatc caggagtggg tgatgagaca ggcgttaata
      541 cctgtagatg aagatggcct ggaacctcaa gtgtgtgtta ttgagcttgg tggaaccgtg
      601 ggggacatag aaagcatgcc ctttattgag gccttccgtc agttccaatt caaggtcaaa
      661 agagagaact tttgtaacat ccacgtcagt ctagttcccc agccaagttc aacaggggaa
      721 cagaagacta aacctaccca gaatagtgtt cgggaactta gaggacttgg gctttcccca
      781 gatctggttg tatgcaggtg ctcaaatcca cttgacacat cagtgaagga gaaaatatca
      841 atgttctgcc atgttgagcc tgaacaagtg atctgtgtcc acgatgtctc atccatctac
      901 cgagtcccct tgttgttaga ggagcaaggg gttgtagatt attttcttcg aagacttgac
      961 cttcctattg agaggcagcc aagaaaaatg ctgatgaaat ggaaagagat ggctgacaga
     1021 tatgatcgct tgctggagac ctgctctatt gcccttgtgg gcaaatacac gaagttctca
     1081 gactcctatg cctctgtcat taaggctctg gagcattctg cactggccat caaccacaaa
     1141 ttggaaatca agtacataga ttctgcggac ttggagccca tcacctcgca agaagagccc
     1201 gtgcgctacc acgaagcttg gcagaagctc tgtagtgctc atggagtgct ggttccagga
     1261 ggatttggtg ttcgaggaac agaaggaaaa atccaagcaa ttgcctgggc tcggaatcag
     1321 aaaaagcctt ttttgggcgt gtgcttaggg atgcagttgg cagtggttga attctcaaga
     1381 aacgtgctgg gatggcaaga tgccaattct acagagtttg accctacgac cagtcatccc
     1441 gtggtcgtag acatgccaga acacaaccca gggcagatgg gcggaaccat gaggctgggc
     1501 aagaggagaa ccctgttcca gaccaagaac tcagtcatga ggaaactcta tggagacgca
     1561 gactacttgg aagagaggca ccgccaccga tttgaggtga atccagtctg gaaaaagtgt
     1621 ttggaagaac aaggcttgaa gtttgttggc caagatgttg aaggagagag aatggaaatt
     1681 gtggagttag aagatcatcc cttttttgtt ggggttcagt accaccctga gttcctgtcc
     1741 aggcctatca agccctcccc accatacttt ggcctcctcc tggcctctgt ggggcggctc
     1801 tcacattacc tccagaaagg ctgcaggctc tcacccaggg acacctatag tgacaggagt
     1861 ggaagcagct cccctgactc tgaaatcacc gaactgaagt ttccatcaat aaatcatgac
     1921 tgatcttgta gcggatgatt cttcaagaga cccttcaaac ttgggtagag tttacagctc
     1981 tgactttaca ctcggctttg gagactttct ttaaattatg tttttattaa gattatttta
     2041 ttatgcggaa aggtatttgg gaaacttgtc acttgcatgt cccatcacgt gtactggctc
     2101 ctctgtggtg tctgcctgtt gcgtgacact ctccttgcag ttcttgagtt gcggcagaac
     2161 atcgcgatgg gaaccgatgg tgggtggggc tgcagagtgc cccatcggtc accttgtttc
     2221 tcaactacct cgcatcattg cagatgctag cgcgttgcct gtcgctttcc cttggatacc
     2281 tagaccgtta taaagtgtgc cacatggact taccgagcat ggagagagga ttttagctag
     2341 gatttgaaca cttggtgctg ggaacctcag ggtattgctt gccactaagc catgaaacca
     2401 gagacaaaat ctctatactg ccctgagttg gggggaattc tcagtgccaa ctgtggctgg
     2461 tcctcattca aagggacggt cagtttggtg tcaacatgaa acaccaagat gtctgtctct
     2521 gaagcgtgat tttaaaatcc ccatgcctgt ggctgcgctt cctatttcta gggctgggaa
     2581 acactccttg catcaagggg tcacttacag aacaaagaat cttttggggg aaacttcctc
     2641 taaaaccctc tcatatatag acagctttga ctggagggtc catttttctt ccaggatggt
     2701 gttactgcag ttgaaagggc aatatgaagt tactttctta atgtgaccta gcaataggca
     2761 tagctacgtg gcactatatt ctggccagac tcgatgtgta ctctaactta agaaataaat
     2821 cagtaaggca gaacaagaga
//
