LOCUS       NM_000270               1477 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.
ACCESSION   NM_000270
VERSION     NM_000270.4
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 1477)
  AUTHORS   Alizadeh,Z., Badalzadeh,M., Heydarlou,H., Shakerian,L., Mahlooji
            Rad,M., Zandieh,F. and Fazlollahi,M.R.
  TITLE     Purine Nucleoside Phosphorylase Deficiency in Two Unrelated
            Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two
            Novel Mutations
  JOURNAL   Arch Iran Med 26 (12), 712-716 (2023)
   PUBMED   38431953
  REMARK    GeneRIF: Purine Nucleoside Phosphorylase Deficiency in Two
            Unrelated Patients with Autoimmune Hemolytic Anemia and
            Eosinophilia: Two Novel Mutations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1477)
  AUTHORS   Frost,C.F., Balasubramani,S.G., Antoniou,D. and Schwartz,S.D.
  TITLE     Connecting Conformational Motions to Rapid Dynamics in Human Purine
            Nucleoside Phosphorylase
  JOURNAL   J Phys Chem B 127 (1), 144-150 (2023)
   PUBMED   36538016
  REMARK    GeneRIF: Connecting Conformational Motions to Rapid Dynamics in
            Human Purine Nucleoside Phosphorylase.
REFERENCE   3  (bases 1 to 1477)
  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 1477)
  AUTHORS   Al-Saud,B., Al Alawi,Z., Hussain,F.B., Hershfield,M., Alkuraya,F.S.
            and Al-Mayouf,S.M.
  TITLE     A Case with Purine Nucleoside Phosphorylase Deficiency Suffering
            from Late-Onset Systemic Lupus Erythematosus and Lymphoma
  JOURNAL   J Clin Immunol 40 (6), 833-839 (2020)
   PUBMED   32514656
  REMARK    GeneRIF: A Case with Purine Nucleoside Phosphorylase Deficiency
            Suffering from Late-Onset Systemic Lupus Erythematosus and
            Lymphoma.
REFERENCE   5  (bases 1 to 1477)
  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   6  (bases 1 to 1477)
  AUTHORS   Aust,M.R., Andrews,L.G., Barrett,M.J., Norby-Slycord,C.J. and
            Markert,M.L.
  TITLE     Molecular analysis of mutations in a patient with purine nucleoside
            phosphorylase deficiency
  JOURNAL   Am J Hum Genet 51 (4), 763-772 (1992)
   PUBMED   1384322
REFERENCE   7  (bases 1 to 1477)
  AUTHORS   Andrews,L.G. and Markert,M.L.
  TITLE     Exon skipping in purine nucleoside phosphorylase mRNA processing
            leading to severe immunodeficiency
  JOURNAL   J Biol Chem 267 (11), 7834-7838 (1992)
   PUBMED   1560016
REFERENCE   8  (bases 1 to 1477)
  AUTHORS   Jonsson,J.J., Williams,S.R. and McIvor,R.S.
  TITLE     Sequence and functional characterization of the human purine
            nucleoside phosphorylase promoter
  JOURNAL   Nucleic Acids Res 19 (18), 5015-5020 (1991)
   PUBMED   1923769
REFERENCE   9  (bases 1 to 1477)
  AUTHORS   Markert,M.L.
  TITLE     Purine nucleoside phosphorylase deficiency
  JOURNAL   Immunodefic Rev 3 (1), 45-81 (1991)
   PUBMED   1931007
  REMARK    Review article
REFERENCE   10 (bases 1 to 1477)
  AUTHORS   Borgers,M., Verhaegen,H., De Brabander,M., De Cree,J., De Cock,W.,
            Thone,F. and Geuens,G.
  TITLE     Purine nucleoside phosphorylase in chronic lymphocytic leukemia
            (CLL)
  JOURNAL   Blood 52 (5), 886-895 (1978)
   PUBMED   100152
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC106074.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000270.3.
            
            Summary: This gene encodes an enzyme which reversibly catalyzes the
            phosphorolysis of purine nucleosides. The enzyme is trimeric,
            containing three identical subunits. Mutations which result in
            nucleoside phosphorylase deficiency result in defective T-cell
            (cell-mediated) immunity but can also affect B-cell immunity and
            antibody responses. Neurologic disorders may also be apparent in
            patients with immune defects. A known polymorphism at aa position
            51 that does not affect enzyme activity has been described. A
            pseudogene has been identified on chromosome 2. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: EU794649.1, BC106074.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361505.10/ ENSP00000354532.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1477              BC106074.1         24-1500
FEATURES             Location/Qualifiers
     source          1..1477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1477
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="purine nucleoside phosphorylase"
                     /db_xref="GeneID:4860"
                     /db_xref="HGNC:HGNC:7892"
                     /db_xref="MIM:164050"
     exon            1..130
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..989
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /EC_number="2.4.2.1"
                     /note="inosine phosphorylase;
                     purine-nucleoside:orthophosphate ribosyltransferase;
                     HEL-S-156an; inosine-guanosine phosphorylase; epididymis
                     secretory sperm binding protein Li 156an"
                     /codon_start=1
                     /product="purine nucleoside phosphorylase"
                     /protein_id="NP_000261.2"
                     /db_xref="CCDS:CCDS9552.1"
                     /db_xref="GeneID:4860"
                     /db_xref="HGNC:HGNC:7892"
                     /db_xref="MIM:164050"
                     /translation="MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQ
                     AQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRV
                     FHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFP
                     AMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVG
                     MSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVS
                     ILMASIPLPDKAS"
     exon            131..300
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /inference="alignment:Splign:2.1.0"
     exon            301..404
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /inference="alignment:Splign:2.1.0"
     exon            405..580
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /inference="alignment:Splign:2.1.0"
     exon            581..771
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /inference="alignment:Splign:2.1.0"
     exon            772..1477
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1456..1461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="hexamer: AATAAA"
     polyA_site      1477
                     /gene="PNP"
                     /gene_synonym="NP; PRO1837; PUNP"
                     /note="major polyA site"
ORIGIN      
        1 aactgtgcga accagacccg gcagccttgc tcagttcagc atagcggagc ggatccgatc
       61 ggatcggagc ggatcggagc acaccggagc aggctcatcg agaaggcgtc tgcgagacca
      121 tggagaacgg atacacctat gaagattata agaacactgc agaatggctt ctgtctcaca
      181 ctaagcaccg acctcaagtt gcaataatct gtggttctgg attaggaggt ctgactgata
      241 aattaactca ggcccagatc tttgactacg gtgaaatccc caactttccc cgaagtacag
      301 tgccaggtca tgctggccga ctggtgtttg ggttcctgaa tggcagggcc tgtgtgatga
      361 tgcagggcag gttccacatg tatgaagggt acccactctg gaaggtgaca ttcccagtga
      421 gggttttcca ccttctgggt gtggacaccc tggtagtcac caatgcagca ggagggctga
      481 accccaagtt tgaggttgga gatatcatgc tgatccgtga ccatatcaac ctacctggtt
      541 tcagtggtca gaaccctctc agagggccca atgatgaaag gtttggagat cgtttccctg
      601 ccatgtctga tgcctacgac cggactatga ggcagagggc tctcagtacc tggaaacaaa
      661 tgggggagca acgtgagcta caggaaggca cctatgtgat ggtggcaggc cccagctttg
      721 agactgtggc agaatgtcgt gtgctgcaga agctgggagc agacgctgtt ggcatgagta
      781 cagtaccaga agttatcgtt gcacggcact gtggacttcg agtctttggc ttctcactca
      841 tcactaacaa ggtcatcatg gattatgaaa gcctggagaa ggccaaccat gaagaagtct
      901 tagcagctgg caaacaagct gcacagaaat tggaacagtt tgtctccatt cttatggcca
      961 gcattccact ccctgacaaa gccagttgac ctgccttgga gtcgtctggc atctcccaca
     1021 caagacccaa gtagctgcta ccttctttgg ccccttgctg gagtcatgtg cctctgtcct
     1081 taggttgtag cagaaaggaa aagattcctg tccttcacct ttcccacttt cttctaccag
     1141 acccttctgg tgccagatcc tcttctcaaa gctgggatta caggtgtgag catagtgaga
     1201 ccttggcgct acaaaataaa gctgttctca ttcctgttct ttcttacaca agagctggag
     1261 cccgtgccct accacacatc tgtggagatg cccaggattt gactcgggcc ttagaacttt
     1321 gcatagcagc tgctactagc tctttgagat aatacattcc gaggggctca gttctgcctt
     1381 atctaaatca ccagagacca aacaaggact aatccaatac ctcttggatt ttatttaatg
     1441 tcataatgtt gtcagaataa agagaaagat gaaataa
//
