LOCUS       NM_002764               2070 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1),
            transcript variant 1, mRNA.
ACCESSION   NM_002764
VERSION     NM_002764.4
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 2070)
  AUTHORS   Jin,Q., Li,J., Yang,F., Feng,L. and Du,X.
  TITLE     Circular RNA circKIF2A Contributes to the Progression of
            Neuroblastoma Through Regulating PRPS1 Expression by Sponging
            miR-377-3p
  JOURNAL   Biochem Genet 60 (4), 1380-1401 (2022)
   PUBMED   35039981
  REMARK    GeneRIF: Circular RNA circKIF2A Contributes to the Progression of
            Neuroblastoma Through Regulating PRPS1 Expression by Sponging
            miR-377-3p.
REFERENCE   2  (bases 1 to 2070)
  AUTHORS   Somazu,S., Tanaka,Y., Tamai,M., Watanabe,A., Kagami,K., Abe,M.,
            Harama,D., Shinohara,T., Akahane,K., Goi,K., Sugita,K.,
            Moriyama,T., Yang,J., Goto,H., Minegishi,M., Iwamoto,S., Takita,J.
            and Inukai,T.
  TITLE     NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence
            thiopurine sensitivity in acute lymphoblastic leukaemia cells
  JOURNAL   J Cell Mol Med 25 (22), 10521-10533 (2021)
   PUBMED   34636169
  REMARK    GeneRIF: NUDT15 polymorphism and NT5C2 and PRPS1 mutations
            influence thiopurine sensitivity in acute lymphoblastic leukaemia
            cells.
REFERENCE   3  (bases 1 to 2070)
  AUTHORS   Liu,X.Z., Yuan,H., Mittal,R. and Yan,D.
  TITLE     DFNX1 Nonsyndromic Hearing Loss and Deafness - 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            HISTORICAL REFERENCE ONLY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   21834172
REFERENCE   4  (bases 1 to 2070)
  AUTHORS   de Brouwer,A.P.M. and Christodoulou,J.
  TITLE     Phosphoribosylpyrophosphate Synthetase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301738
REFERENCE   5  (bases 1 to 2070)
  AUTHORS   de Brouwer,A.P.M. and Christodoulou,J.
  TITLE     Phosphoribosylpyrophosphate Synthetase Superactivity
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301734
REFERENCE   6  (bases 1 to 2070)
  AUTHORS   Kim,J.W. and Kim,H.J.
  TITLE     Charcot-Marie-Tooth Neuropathy X Type 5 - 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   20301731
REFERENCE   7  (bases 1 to 2070)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   8  (bases 1 to 2070)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   9  (bases 1 to 2070)
  AUTHORS   Ishizuka,T., Iizasa,T., Taira,M., Ishijima,S., Sonoda,T.,
            Shimada,H., Nagatake,N. and Tatibana,M.
  TITLE     Promoter regions of the human X-linked housekeeping genes PRPS1 and
            PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and
            II isoforms
  JOURNAL   Biochim Biophys Acta 1130 (2), 139-148 (1992)
   PUBMED   1314091
REFERENCE   10 (bases 1 to 2070)
  AUTHORS   Sonoda,T., Taira,M., Ishijima,S., Ishizuka,T., Iizasa,T. and
            Tatibana,M.
  TITLE     Complete nucleotide sequence of human phosphoribosyl pyrophosphate
            synthetase subunit I (PRS I) cDNA and a comparison with human and
            rat PRPS gene families
  JOURNAL   J Biochem 109 (2), 361-364 (1991)
   PUBMED   1650777
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137787.11 and BC001605.1.
            
            On Aug 31, 2019 this sequence version replaced NM_002764.3.
            
            Summary: This gene encodes an enzyme that catalyzes the
            phosphoribosylation of ribose 5-phosphate to
            5-phosphoribosyl-1-pyrophosphate, which is necessary for purine
            metabolism and nucleotide biosynthesis. Defects in this gene are a
            cause of phosphoribosylpyrophosphate synthetase superactivity,
            Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts
            Syndrome. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC001605.1, D00860.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372435.10/ ENSP00000361512.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AL137787.11        78142-78160
            20-2070             BC001605.1         1-2051
FEATURES             Location/Qualifiers
     source          1..2070
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.3"
     gene            1..2070
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /note="phosphoribosyl pyrophosphate synthetase 1"
                     /db_xref="GeneID:5631"
                     /db_xref="HGNC:HGNC:9462"
                     /db_xref="MIM:311850"
     exon            1..241
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..1076
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /EC_number="2.7.6.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ribose-phosphate diphosphokinase 1; deafness, X-linked 2,
                     perceptive, congenital; ribose-phosphate pyrophosphokinase
                     1; deafness 2, perceptive, congenital; dJ1070B1.2
                     (phosphoribosyl pyrophosphate synthetase 1);
                     phosphoribosyl pyrophosphate synthase I"
                     /codon_start=1
                     /product="ribose-phosphate pyrophosphokinase 1 isoform 1"
                     /protein_id="NP_002755.1"
                     /db_xref="CCDS:CCDS14529.1"
                     /db_xref="GeneID:5631"
                     /db_xref="HGNC:HGNC:9462"
                     /db_xref="MIM:311850"
                     /translation="MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEI
                     GESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDK
                     SRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENIS
                     EWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAIL
                     VDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIP
                     QEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL"
     exon            242..425
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /inference="alignment:Splign:2.1.0"
     exon            426..524
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /inference="alignment:Splign:2.1.0"
     exon            525..649
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /inference="alignment:Splign:2.1.0"
     exon            650..823
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /inference="alignment:Splign:2.1.0"
     exon            824..983
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /inference="alignment:Splign:2.1.0"
     exon            984..2070
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2047..2052
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /note="hexamer: AATAAA"
     polyA_site      2070
                     /gene="PRPS1"
                     /gene_synonym="ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I;
                     PRSI"
                     /note="major polyA site"
ORIGIN      
        1 aatgtaagat ggcggagtag caacgcaaag cgcttggtat tgagtctgtg gccgacttcg
       61 gttccggtct ctgcagcagc cgtgatcgct tagtggagtg cttagggtag ttggccagga
      121 tgccgaatat caaaatcttc agcggcagct cccaccagga cttatctcag aaaattgctg
      181 accgcctggg cctggagcta ggcaaggtgg tgactaagaa attcagcaac caggagacct
      241 gtgtggaaat tggtgaaagt gtacgtggag aggatgtcta cattgttcag agtggttgtg
      301 gcgaaatcaa tgacaattta atggagcttt tgatcatgat taatgcctgc aagattgctt
      361 cagccagccg ggttactgca gtcatcccat gcttccctta tgcccggcag gataagaaag
      421 ataagagccg ggcgccaatc tcagccaagc ttgttgcaaa tatgctatct gtagcaggtg
      481 cagatcatat tatcaccatg gacctacatg cttctcaaat tcagggcttt tttgatatcc
      541 cagtagacaa tttgtatgca gagccggctg tcctaaagtg gataagggag aatatctctg
      601 agtggaggaa ctgcactatt gtctcacctg atgctggtgg agctaagaga gtgacctcca
      661 ttgcagacag gctgaatgtg gactttgcct tgattcacaa agaacggaag aaggccaatg
      721 aagtggaccg catggtgctt gtgggagatg tgaaggatcg ggtggccatc cttgtggatg
      781 acatggctga cacttgtggc acaatctgcc atgcagctga caaacttctc tcagctggcg
      841 ccaccagagt ttatgccatc ttgactcatg gaatcttctc cggtcctgct atttctcgca
      901 tcaacaacgc atgctttgag gcagtagtag tcaccaatac catacctcag gaggacaaga
      961 tgaagcattg ctccaaaata caggtgattg acatctctat gatccttgca gaagccatca
     1021 ggagaactca caatggagaa tccgtttctt acctattcag ccatgtccct ttataataga
     1081 gtaacttctg aggctttttg agaataaaat ccaccccacc cttgtttccc cttggtattt
     1141 gatgacaaat tcagcagaag acccggcttg ctccagtgta gctttctaca tcccacatca
     1201 ggtatattag agcttatccg aactggggaa agacggattg agattaactg ctgggacctc
     1261 ctacctgcat tatctcattc tggcttcctt gataattctg tgggccttgc agctttaact
     1321 atagctcagc tgctgcaaga tttcagactt ttgaggatgt tgtgtgaggg tgtttgactg
     1381 tgactgggga agctcagact actttgtatg tgaatgcttc agggttttct ttgttgagaa
     1441 caactagcaa caaaggcaac ccatgtgtga ccagttctcc ccaaggtcta tgctaaatta
     1501 tagcaagagc cctgggcaac cccaaaccta gtcctggtag ctgagcaccc tgtaaggcag
     1561 gagcaggcag ctcagcttga gcagacattg ggtggggggt ggggggtggt tgagggggga
     1621 ggcagcacag tgcagcaaat gtttcttggg aggaagaagc ctgatccatc accatctgct
     1681 tgactatgta gcttggattc tcctttgtac ctatcccttt cgatttggct ttaccttcat
     1741 ctatcttgat cctttcctgg ccaaatatcc tcttgggccc aaatgaacat tgtaccatag
     1801 tcttctggaa agcaaacatg cttcctgcta tgtaattgct aacattcata ttagatgatg
     1861 tgctgtagct tgatcttcct tagcctactg ccactgaggc agtaggtttt aggtggtatc
     1921 gtagtgcctt ttgattaatt taagtattta attttcatct tccttctttg gatctatttg
     1981 gcctctcaaa tgaactgaga ttcctgttaa aaaagattga tgttattgtc tcttgtagag
     2041 gaaactaata aagtgtgtgt acctgtgtga
//
