LOCUS       NM_000194               1395 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens hypoxanthine phosphoribosyltransferase 1 (HPRT1),
            mRNA.
ACCESSION   NM_000194
VERSION     NM_000194.3
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 1395)
  AUTHORS   Yin,J., Wang,X., Ge,X., Ding,F., Shi,Z., Ge,Z., Huang,G., Zhao,N.,
            Chen,D., Zhang,J., Agnihotri,S., Cao,Y., Ji,J., Lin,F., Wang,Q.,
            Zhou,Q., Wang,X., You,Y., Lu,Z. and Qian,X.
  TITLE     Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide
            to activate AMPK for driving chemoresistance of glioblastomas
  JOURNAL   Nat Commun 14 (1), 5913 (2023)
   PUBMED   37737247
  REMARK    GeneRIF: Hypoxanthine phosphoribosyl transferase 1 metabolizes
            temozolomide to activate AMPK for driving chemoresistance of
            glioblastomas.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1395)
  AUTHORS   Akram,Z., Mahjabeen,I., Umair,M., Fahim,M., Kayani,M.A., Fatima,L.,
            Ahmad,M.W., Jahan,S., Afsar,T., Almajwal,A., Alruwaili,N.W.,
            Khawar,I.A. and Razak,S.
  TITLE     Expression variation of OGG1 and HPRT gene and DNA damage in
            arsenic exposed industrial workers
  JOURNAL   PLoS One 17 (9), e0273211 (2022)
   PUBMED   36178927
  REMARK    GeneRIF: Expression variation of OGG1 and HPRT gene and DNA damage
            in arsenic exposed industrial workers.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1395)
  AUTHORS   Pinho,S.A., Costa,C.F., Deus,C.M., Pinho,S.L.C., Miranda-Santos,I.,
            Afonso,G., Bagshaw,O., Stuart,J.A., Oliveira,P.J. and
            Cunha-Oliveira,T.
  TITLE     Mitochondrial and metabolic remodelling in human skin fibroblasts
            in response to glucose availability
  JOURNAL   FEBS J 289 (17), 5198-5217 (2022)
   PUBMED   35213938
REFERENCE   4  (bases 1 to 1395)
  AUTHORS   Ueda,S., Hirata,T. and Sakasegawa,S.I.
  TITLE     Hypoxanthine-guanine phosphoribosyltransferase is activated via
            positive cooperativity between guanine and IMP
  JOURNAL   FEBS Lett 596 (8), 1072-1080 (2022)
   PUBMED   35114018
  REMARK    GeneRIF: Hypoxanthine-guanine phosphoribosyltransferase is
            activated via positive cooperativity between guanine and IMP.
REFERENCE   5  (bases 1 to 1395)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   6  (bases 1 to 1395)
  AUTHORS   Jinnah,H.A.
  TITLE     HPRT1 Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301328
REFERENCE   7  (bases 1 to 1395)
  AUTHORS   Sculley,D.G., Dawson,P.A., Emmerson,B.T. and Gordon,R.B.
  TITLE     A review of the molecular basis of hypoxanthine-guanine
            phosphoribosyltransferase (HPRT) deficiency
  JOURNAL   Hum Genet 90 (3), 195-207 (1992)
   PUBMED   1487231
  REMARK    Review article
REFERENCE   8  (bases 1 to 1395)
  AUTHORS   Sege-Peterson,K., Chambers,J., Page,T., Jones,O.W. and Nyhan,W.L.
  TITLE     Characterization of mutations in phenotypic variants of
            hypoxanthine phosphoribosyltransferase deficiency
  JOURNAL   Hum Mol Genet 1 (6), 427-432 (1992)
   PUBMED   1301916
REFERENCE   9  (bases 1 to 1395)
  AUTHORS   Lightfoot,T., Joshi,R., Nuki,G. and Snyder,F.F.
  TITLE     The point mutation of hypoxanthine-guanine
            phosphoribosyltransferase (HPRTEdinburgh) and detection by
            allele-specific polymerase chain reaction
  JOURNAL   Hum Genet 88 (6), 695-696 (1992)
   PUBMED   1551676
REFERENCE   10 (bases 1 to 1395)
  AUTHORS   Holden,J.A. and Kelley,W.N.
  TITLE     Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for
            tetrameric structure
  JOURNAL   J Biol Chem 253 (12), 4459-4463 (1978)
   PUBMED   659426
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004383.1, M31642.1 and
            BC000578.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000194.2.
            
            Summary: The protein encoded by this gene is a transferase, which
            catalyzes conversion of hypoxanthine to inosine monophosphate and
            guanine to guanosine monophosphate via transfer of the
            5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This
            enzyme plays a central role in the generation of purine nucleotides
            through the purine salvage pathway. Mutations in this gene result
            in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009].
            
            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 :: SRR3476690.174892.1,
                                           SRR3476690.20350.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298556.8/ ENSP00000298556.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AC004383.1         44723-44784
            63-1393             M31642.1           1-1331
            1394-1395           BC000578.2         1286-1287
FEATURES             Location/Qualifiers
     source          1..1395
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.2-q26.3"
     gene            1..1395
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="hypoxanthine phosphoribosyltransferase 1"
                     /db_xref="GeneID:3251"
                     /db_xref="HGNC:HGNC:5157"
                     /db_xref="MIM:308000"
     exon            1..174
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..804
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /EC_number="2.4.2.8"
                     /note="HGPRTase; hypoxanthine-guanine
                     phosphoribosyltransferase 1; testicular tissue protein Li
                     89; hypoxanthine guanine phosphoribosyl transferase"
                     /codon_start=1
                     /product="hypoxanthine-guanine phosphoribosyltransferase"
                     /protein_id="NP_000185.1"
                     /db_xref="CCDS:CCDS14641.1"
                     /db_xref="GeneID:3251"
                     /db_xref="HGNC:HGNC:5157"
                     /db_xref="MIM:308000"
                     /translation="MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMD
                     RTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRL
                     KSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKV
                     ASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA
                     "
     exon            175..281
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     exon            282..465
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     exon            466..531
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     exon            532..549
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     exon            550..632
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     exon            633..679
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     exon            680..756
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     exon            757..1395
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1375..1380
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="hexamer: AATAAA"
     polyA_site      1395
                     /gene="HPRT1"
                     /gene_synonym="HGPRT; HPRT"
                     /note="major polyA site"
ORIGIN      
        1 agcttcaggc ggctgcgacg agccctcagg cgaacctctc ggctttcccg cgcggcgccg
       61 cctcttgctg cgcctccgcc tcctcctctg ctccgccacc ggcttcctcc tcctgagcag
      121 tcagcccgcg cgccggccgg ctccgttatg gcgacccgca gccctggcgt cgtgattagt
      181 gatgatgaac caggttatga ccttgattta ttttgcatac ctaatcatta tgctgaggat
      241 ttggaaaggg tgtttattcc tcatggacta attatggaca ggactgaacg tcttgctcga
      301 gatgtgatga aggagatggg aggccatcac attgtagccc tctgtgtgct caaggggggc
      361 tataaattct ttgctgacct gctggattac atcaaagcac tgaatagaaa tagtgataga
      421 tccattccta tgactgtaga ttttatcaga ctgaagagct attgtaatga ccagtcaaca
      481 ggggacataa aagtaattgg tggagatgat ctctcaactt taactggaaa gaatgtcttg
      541 attgtggaag atataattga cactggcaaa acaatgcaga ctttgctttc cttggtcagg
      601 cagtataatc caaagatggt caaggtcgca agcttgctgg tgaaaaggac cccacgaagt
      661 gttggatata agccagactt tgttggattt gaaattccag acaagtttgt tgtaggatat
      721 gcccttgact ataatgaata cttcagggat ttgaatcatg tttgtgtcat tagtgaaact
      781 ggaaaagcaa aatacaaagc ctaagatgag agttcaagtt gagtttggaa acatctggag
      841 tcctattgac atcgccagta aaattatcaa tgttctagtt ctgtggccat ctgcttagta
      901 gagctttttg catgtatctt ctaagaattt tatctgtttt gtactttaga aatgtcagtt
      961 gctgcattcc taaactgttt atttgcacta tgagcctata gactatcagt tccctttggg
     1021 cggattgttg tttaacttgt aaatgaaaaa attctcttaa accacagcac tattgagtga
     1081 aacattgaac tcatatctgt aagaaataaa gagaagatat attagttttt taattggtat
     1141 tttaattttt atatatgcag gaaagaatag aagtgattga atattgttaa ttataccacc
     1201 gtgtgttaga aaagtaagaa gcagtcaatt ttcacatcaa agacagcatc taagaagttt
     1261 tgttctgtcc tggaattatt ttagtagtgt ttcagtaatg ttgactgtat tttccaactt
     1321 gttcaaatta ttaccagtga atctttgtca gcagttccct tttaaatgca aatcaataaa
     1381 ttcccaaaaa tttaa
//
