LOCUS       NM_000485                931 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens adenine phosphoribosyltransferase (APRT), transcript
            variant 1, mRNA.
ACCESSION   NM_000485
VERSION     NM_000485.3
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 931)
  AUTHORS   Locher,M., Jukic,E., Vogi,V., Keller,M.A., Kroll,T.,
            Schwendinger,S., Oberhuber,K., Verdorfer,I., Muhlegger,B.E.,
            Witsch-Baumgartner,M., Nachbaur,D., Willenbacher,W., Gunsilius,E.,
            Wolf,D., Zschocke,J. and Steiner,N.
  TITLE     Amp(1q) and tetraploidy are commonly acquired chromosomal
            abnormalities in relapsed multiple myeloma
  JOURNAL   Eur J Haematol 110 (3), 296-304 (2023)
   PUBMED   36433728
  REMARK    GeneRIF: Amp(1q) and tetraploidy are commonly acquired chromosomal
            abnormalities in relapsed multiple myeloma.
REFERENCE   2  (bases 1 to 931)
  AUTHORS   Runolfsdottir,H.L., Sayer,J.A., Indridason,O.S., Edvardsson,V.O.,
            Jensson,B.O., Arnadottir,G.A., Gudjonsson,S.A., Fridriksdottir,R.,
            Katrinardottir,H., Gudbjartsson,D., Thorsteinsdottir,U., Sulem,P.,
            Stefansson,K. and Palsson,R.
  TITLE     Allele frequency of variants reported to cause adenine
            phosphoribosyltransferase deficiency
  JOURNAL   Eur J Hum Genet 29 (7), 1061-1070 (2021)
   PUBMED   33707627
  REMARK    GeneRIF: Allele frequency of variants reported to cause adenine
            phosphoribosyltransferase deficiency.
REFERENCE   3  (bases 1 to 931)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 931)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 931)
  AUTHORS   Ozeir,M., Huyet,J., Burgevin,M.C., Pinson,B., Chesney,F.,
            Remy,J.M., Siddiqi,A.R., Lupoli,R., Pinon,G., Saint-Marc,C.,
            Gibert,J.F., Morales,R., Ceballos-Picot,I., Barouki,R.,
            Daignan-Fornier,B., Olivier-Bandini,A., Auge,F. and Nioche,P.
  TITLE     Structural basis for substrate selectivity and nucleophilic
            substitution mechanisms in human adenine phosphoribosyltransferase
            catalyzed reaction
  JOURNAL   J Biol Chem 294 (32), 11980-11991 (2019)
   PUBMED   31160323
  REMARK    GeneRIF: binding to hAPRT is substrate shape-specific in the
            forward reaction, whereas it is base-specific in the reverse
            reaction. The forward reaction is mainly a nucleophilic
            substitution of type 2 (SN2) with a mix of SN1-type molecular
            mechanism. Based on our structural analysis, a magnesium-assisted
            SN2-type mechanism would be involved in the reverse reaction.
REFERENCE   6  (bases 1 to 931)
  AUTHORS   Edvardsson,V.O., Sahota,A. and Palsson,R.
  TITLE     Adenine Phosphoribosyltransferase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22934314
REFERENCE   7  (bases 1 to 931)
  AUTHORS   Kamatani,N., Hakoda,M., Otsuka,S., Yoshikawa,H. and Kashiwazaki,S.
  TITLE     Only three mutations account for almost all defective alleles
            causing adenine phosphoribosyltransferase deficiency in Japanese
            patients
  JOURNAL   J Clin Invest 90 (1), 130-135 (1992)
   PUBMED   1353080
REFERENCE   8  (bases 1 to 931)
  AUTHORS   Ludwig,H., Kuzmits,R., Pietschmann,H. and Muller,M.M.
  TITLE     Enzymes of the purine interconversion system in chronic lymphatic
            leukemia: decreased purine nucleoside phosphorylase and adenosine
            deaminase activity
  JOURNAL   Blut 39 (5), 309-315 (1979)
   PUBMED   116697
REFERENCE   9  (bases 1 to 931)
  AUTHORS   Holden,J.A., Meredith,G.S. and Kelley,W.N.
  TITLE     Human adenine phosphoribosyltransferase. Affinity purification,
            subunit structure, amino acid composition, and peptide mapping
  JOURNAL   J Biol Chem 254 (15), 6951-6955 (1979)
   PUBMED   457664
REFERENCE   10 (bases 1 to 931)
  AUTHORS   Johnson,L.A., Gordon,R.B. and Emmerson,B.T.
  TITLE     Adenine phosphoribosyltransferase: a simple spectrophotometric
            assay and the incidence of mutation in the normal population
  JOURNAL   Biochem Genet 15 (3-4), 265-272 (1977)
   PUBMED   869896
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM423481.1, BU507629.1 and
            AC092384.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000485.2.
            
            Summary: Adenine phosphoribosyltransferase belongs to the
            purine/pyrimidine phosphoribosyltransferase family. A conserved
            feature of this gene is the distribution of CpG dinucleotides. This
            enzyme catalyzes the formation of AMP and inorganic pyrophosphate
            from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also
            produces adenine as a by-product of the polyamine biosynthesis
            pathway. A homozygous deficiency in this enzyme causes
            2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and 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 :: SRR7410570.627404.1,
                                           SRR7410570.627401.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378364.8/ ENSP00000367615.3
            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
            1-707               BM423481.1         31-737
            708-801             BU507629.1         115-208
            802-931             AC092384.5         42099-42228         c
FEATURES             Location/Qualifiers
     source          1..931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..931
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="adenine phosphoribosyltransferase"
                     /db_xref="GeneID:353"
                     /db_xref="HGNC:HGNC:626"
                     /db_xref="MIM:102600"
     exon            1..109
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..572
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /EC_number="2.4.2.7"
                     /note="isoform a is encoded by transcript variant 1;
                     transphosphoribosidase; AMP diphosphorylase; AMP
                     pyrophosphorylase"
                     /codon_start=1
                     /product="adenine phosphoribosyltransferase isoform a"
                     /protein_id="NP_000476.1"
                     /db_xref="CCDS:CCDS32511.1"
                     /db_xref="GeneID:353"
                     /db_xref="HGNC:HGNC:626"
                     /db_xref="MIM:102600"
                     /translation="MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIG
                     LLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYS
                     LEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELT
                     SLKGREKLAPVPFFSLLQYE"
     exon            110..216
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /inference="alignment:Splign:2.1.0"
     exon            217..350
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /inference="alignment:Splign:2.1.0"
     exon            351..429
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /inference="alignment:Splign:2.1.0"
     exon            430..931
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      782..787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="hexamer: AGTAAA"
     polyA_site      801
                     /gene="APRT"
                     /gene_synonym="AMP; APRTD"
                     /note="major polyA site"
ORIGIN      
        1 gggctgccgc tggctcttcg cacgcggcca tggccgactc cgagctgcag ctggttgagc
       61 agcggatccg cagcttcccc gacttcccca ccccaggcgt ggtattcagg gacatctcgc
      121 ccgtcctgaa ggaccccgcc tccttccgcg ccgccatcgg cctcctggcg cgacacctga
      181 aggcgaccca cgggggccgc atcgactaca tcgcaggcct agactcccga ggcttcctct
      241 ttggcccctc cctggcccag gagcttggac tgggctgcgt gctcatccga aagcggggga
      301 agctgccagg ccccactctg tgggcctcct attccctgga gtacgggaag gctgagctgg
      361 agattcagaa agacgccctg gagccaggac agagggtggt cgtcgtggat gatctgctgg
      421 ccactggtgg aaccatgaac gctgcctgtg agctgctggg ccgcctgcag gctgaggtcc
      481 tggagtgcgt gagcctggtg gagctgacct cgcttaaggg cagggagaag ctggcacctg
      541 tacccttctt ctctctcctg cagtatgagt gaccacaggg cctcccagcc caacatctcc
      601 agctggatcc cagggaaata tcagccttgg gcaactgcag tgaccagggg caccggctgc
      661 ccacagggaa cacattcctt tgctggggtt cagcgcctct cctggggctg gaagtgccaa
      721 agcctggggc aaagctgtgt ttcagccaca ctgaacccaa ttacacacag cgggagaacg
      781 cagtaaacag ctttcccaca agagccgtct cctgtcctcc tgttccccag ggcagggagc
      841 cccaggacaa caccagactt cagctgtact gtgggcatgt gctgcttggc gtgatgccca
      901 gcagaacctg tcctggttct cacctcagga g
//
