LOCUS       NM_001424409            1449 bp    mRNA    linear   PRI 15-JUL-2024
DEFINITION  Homo sapiens inosine triphosphatase (ITPA), transcript variant 12,
            mRNA.
ACCESSION   NM_001424409 XM_047440140 XM_054323409
VERSION     NM_001424409.1
KEYWORDS    RefSeq.
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 1449)
  AUTHORS   Salazar,J., Riera,P., Gordillo,J., Altes,A., Martinez,M., Seres,M.,
            Llao,J., Giordano,A. and Garcia-Planella,E.
  TITLE     Predictive role of ITPA genetic variants in thiopurine-related
            myelotoxicity in Crohn's disease patients
  JOURNAL   Pharmacogenomics J 24 (4), 20 (2024)
   PUBMED   38906864
  REMARK    GeneRIF: Predictive role of ITPA genetic variants in
            thiopurine-related myelotoxicity in Crohn's disease patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1449)
  AUTHORS   Deva,R., Rajendran,P., Ramasamy,S., Selvan,S. and Ramasamy,K.
  TITLE     Association of ITPA 94C>A genetic polymorphisms with azathioprine
            induced adverse effects in the South Indian population
  JOURNAL   Drug Metab Pers Ther 39 (1), 21-26 (2023)
   PUBMED   38097396
  REMARK    GeneRIF: Association of ITPA 94C>A genetic polymorphisms with
            azathioprine induced adverse effects in the South Indian
            population.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1449)
  AUTHORS   Heidari,M., Khalili,M., Balouchi,F., Roozbeh,J., Shamsaefar,A.R.,
            Malek Hosseini,S.A. and Karimi,M.H.
  TITLE     Investigation of the Association Between ITPA Gene 94C>A Sequence
            Variant and Kidney Transplant Rejection in Iranian Kidney
            Transplant Recipients
  JOURNAL   Exp Clin Transplant 21 (8), 652-656 (2023)
   PUBMED   37698399
  REMARK    GeneRIF: Investigation of the Association Between ITPA Gene 94C>A
            Sequence Variant and Kidney Transplant Rejection in Iranian Kidney
            Transplant Recipients.
REFERENCE   4  (bases 1 to 1449)
  AUTHORS   Heidari,M., Khalili,M., Malek Hosseini,S.A., Geramizadeh,B.,
            Shamsaefar,A.R., Balouchi,F. and Karimi,M.H.
  TITLE     Investigation of the Association Between the ITPA Gene 94C>A Gene
            Sequence Variant and Liver Transplant Rejection in Iranian Liver
            Transplant Recipients
  JOURNAL   Exp Clin Transplant 20 (12), 1094-1098 (2022)
   PUBMED   36718008
  REMARK    GeneRIF: Investigation of the Association Between the ITPA Gene
            94C>A Gene Sequence Variant and Liver Transplant Rejection in
            Iranian Liver Transplant Recipients.
REFERENCE   5  (bases 1 to 1449)
  AUTHORS   Sumi,S., Marinaki,A.M., Arenas,M., Fairbanks,L.,
            Shobowale-Bakre,M., Rees,D.C., Thein,S.L., Ansari,A., Sanderson,J.,
            De Abreu,R.A., Simmonds,H.A. and Duley,J.A.
  TITLE     Genetic basis of inosine triphosphate pyrophosphohydrolase
            deficiency
  JOURNAL   Hum Genet 111 (4-5), 360-367 (2002)
   PUBMED   12384777
REFERENCE   6  (bases 1 to 1449)
  AUTHORS   Cao,H. and Hegele,R.A.
  TITLE     DNA polymorphisms in ITPA including basis of inosine triphosphatase
            deficiency
  JOURNAL   J Hum Genet 47 (11), 620-622 (2002)
   PUBMED   12436200
  REMARK    GeneRIF: Sequencing of the genomic DNA from a subject with complete
            ITP-ase deficiency revealed homozygosity for missense mutation
            198C>A.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1449)
  AUTHORS   Lin,S., McLennan,A.G., Ying,K., Wang,Z., Gu,S., Jin,H., Wu,C.,
            Liu,W., Yuan,Y., Tang,R., Xie,Y. and Mao,Y.
  TITLE     Cloning, expression, and characterization of a human inosine
            triphosphate pyrophosphatase encoded by the itpa gene
  JOURNAL   J Biol Chem 276 (22), 18695-18701 (2001)
   PUBMED   11278832
REFERENCE   8  (bases 1 to 1449)
  AUTHORS   Clawson,G.A., Song,Y.L., Schwartz,A.M., Shukla,R.R., Patel,S.G.,
            Connor,L., Blankenship,L., Hatem,C. and Kumar,A.
  TITLE     Interaction of human immunodeficiency virus type I Rev protein with
            nuclear scaffold nucleoside triphosphatase activity
  JOURNAL   Cell Growth Differ 2 (11), 575-582 (1991)
   PUBMED   1667585
REFERENCE   9  (bases 1 to 1449)
  AUTHORS   Holmes,S.L., Turner,B.M. and Hirschhorn,K.
  TITLE     Human inosine triphosphatase: catalytic properties and population
            studies
  JOURNAL   Clin Chim Acta 97 (2-3), 143-153 (1979)
   PUBMED   487601
REFERENCE   10 (bases 1 to 1449)
  AUTHORS   Fraser,J.H., Meyers,H., Henderson,J.F., Brox,L.W. and McCoy,E.E.
  TITLE     Individual variation in inosine triphosphate accumulation in human
            erythrocytes
  JOURNAL   Clin Biochem 8 (6), 353-364 (1975)
   PUBMED   1204209
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121891.22 and AL109976.23.
            
            On or before Sep 21, 2023 this sequence version replaced
            XM_047440140.1, XM_054323409.1.
            
            Summary: This gene encodes an inosine triphosphate
            pyrophosphohydrolase. The encoded protein hydrolyzes inosine
            triphosphate and deoxyinosine triphosphate to the monophosphate
            nucleotide and diphosphate. This protein, which is a member of the
            HAM1 NTPase protein family, is found in the cytoplasm and acts as a
            homodimer. Defects in the encoded protein can result in inosine
            triphosphate pyrophosphorylase deficiency which causes an
            accumulation of ITP in red blood cells. Alternate splicing results
            in multiple transcript variants. [provided by RefSeq, Jun 2012].
            
            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 :: SRR14038191.458608.1,
                                           DRR138512.104635.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154529, SAMEA2155770
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-215               AL121891.22        119171-119385
            216-532             AL121891.22        123502-123818
            533-590             AL109976.23        2519-2576
            591-655             AL109976.23        2669-2733
            656-729             AL109976.23        3335-3408
            730-761             AL109976.23        4631-4662
            762-877             AL109976.23        7867-7982
            878-954             AL109976.23        11191-11267
            955-1449            AL109976.23        12716-13210
FEATURES             Location/Qualifiers
     source          1..1449
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..1449
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /note="inosine triphosphatase"
                     /db_xref="GeneID:3704"
                     /db_xref="HGNC:HGNC:6176"
                     /db_xref="MIM:147520"
     exon            1..215
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            216..532
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     CDS             341..1051
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /EC_number="3.6.1.9"
                     /note="isoform g precursor is encoded by transcript
                     variant 12; inosine triphosphate pyrophosphohydrolase;
                     putative oncogene protein HLC14-06-P; epididymis secretory
                     sperm binding protein; nucleoside-triphosphate
                     diphosphatase; non-standard purine NTP pyrophosphatase;
                     non-canonical purine NTP pyrophosphatase; inosine
                     triphosphatase (nucleoside triphosphate pyrophosphatase)"
                     /codon_start=1
                     /product="inosine triphosphate pyrophosphatase isoform g
                     precursor"
                     /protein_id="NP_001411338.1"
                     /db_xref="GeneID:3704"
                     /db_xref="HGNC:HGNC:6176"
                     /db_xref="MIM:147520"
                     /translation="MHHHAQLILYFLVEMGFLHVGQAGFKLLTSGDPLASASQSAGIT
                     GVSHRAFPHFDEHQNGLRSLVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEA
                     VRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTF
                     ALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVS
                     HRFRALLELQEYFGSLAA"
     exon            533..590
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            591..655
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            656..729
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            730..761
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            762..877
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            878..954
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1449
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1424..1429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /note="hexamer: AATAAA"
     polyA_site      1449
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /note="major polyA site"
ORIGIN      
        1 agagagcttc aggaatttcc tggagccgcc tcgcgcttct ccagctcgtg ggggacaggc
       61 agaaaatatt cagatgcccc cttcctggca cctgctctgg agccaggctg ggaggaatgg
      121 aaaacccctg cggcctccct aacaggtgca gagggaaagg gccccgacgg tgacggatgg
      181 gagtgtgcgc cggccagggc ctcaggcctt tggagacgca gttttgctct tgttgcccag
      241 gctggagtcc gatggcacga tctccgctca ctgcaacccc cacctcccga attcaggcga
      301 ttctcctgaa tcctgaattc tctgaactgg gattacaggc atgcaccacc atgcccagct
      361 aattttgtac tttttggtag agatggggtt tctccatgtt ggtcaggctg gtttcaaact
      421 cctgacctcg ggtgatccac tcgcctcagc ctcccaaagt gctgggatta caggcgtgag
      481 ccaccgggct ttcccacact ttgatgagca tcagaatggc ctgaggagct tggtcgttca
      541 gattctagga gataagtttc catgcacttt ggtggcacag aaaattgacc tgccggagta
      601 ccagggggag ccggatgaga tttccataca gaaatgtcag gaggcagttc gccaggtaca
      661 ggggcccgtg ctggttgagg acacttgtct gtgcttcaat gcccttggag ggctccccgg
      721 cccctacata aagtggtttc tggagaagtt aaagcctgaa ggtctccacc agctcctggc
      781 cgggttcgag gacaagtcag cctatgcgct ctgcacgttt gcactcagca ccggggaccc
      841 aagccagccc gtgcgcctgt tcaggggccg gacctcgggc cggatcgtgg cacccagagg
      901 ctgccaggac tttggctggg acccctgctt tcagcctgat ggatatgagc agacgtacgc
      961 agagatgcct aaggcggaga agaacgctgt ctcccatcgc ttccgggccc tgctggagct
     1021 gcaggagtac tttggcagtt tggcagcttg acttctgcag ctggaggagg cccctcaggc
     1081 cggggatctg gggagggcta gcccaaaacc tcccgcatcg ggcaggcacc ccctgaagta
     1141 cttccttcag ggtttcccct ttgtgagggt gtcgagtagc ctcaccggcc tgtctggagg
     1201 agcagctggc tctgctctga gaaactctgg caagtggacg ccattctctt gcccttagga
     1261 ttcactgctc tctcctacag ccgccaggcc tggggtcctg aaaggacctt gggtggtaaa
     1321 gctgtacttg gtgggagtga gggcgtgggg aggaaccatg caaatcgcct tccatggttt
     1381 ttaaatgcag taaataacat ttctggatga gacttgtttc caaaataaac cagctatatc
     1441 tgttttgaa
//
