LOCUS       NM_033453               1037 bp    mRNA    linear   PRI 15-JUL-2024
DEFINITION  Homo sapiens inosine triphosphatase (ITPA), transcript variant 1,
            mRNA.
ACCESSION   NM_033453
VERSION     NM_033453.4
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 1037)
  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 1037)
  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 1037)
  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 1037)
  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 1037)
  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 1037)
  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 1037)
  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 1037)
  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 1037)
  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 1037)
  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 BM560812.1 and AF026816.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_033453.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AB062127.1, SRR1163657.496181.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380113.8/ ENSP00000369456.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 BM560812.1         139-144
            7-1037              AF026816.2         4-1034
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..1037
                     /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..120
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..639
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /EC_number="3.6.1.9"
                     /note="isoform a is encoded by transcript variant 1;
                     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 a"
                     /protein_id="NP_258412.1"
                     /db_xref="CCDS:CCDS13051.1"
                     /db_xref="GeneID:3704"
                     /db_xref="HGNC:HGNC:6176"
                     /db_xref="MIM:147520"
                     /translation="MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPE
                     YQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQ
                     LLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGY
                     EQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA"
     exon            121..178
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            179..243
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            244..317
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            318..349
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            350..465
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            466..542
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     exon            543..1037
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1012..1017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /note="hexamer: AATAAA"
     polyA_site      1037
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /note="major polyA site"
ORIGIN      
        1 gtcactggac gccaaggagt tttcggtggc tcagctgggt aaccggggat caccatggcg
       61 gcctcattgg tggggaagaa gatcgtgttt gtaacgggga acgccaagaa gctggaggag
      121 gtcgttcaga ttctaggaga taagtttcca tgcactttgg tggcacagaa aattgacctg
      181 ccggagtacc agggggagcc ggatgagatt tccatacaga aatgtcagga ggcagttcgc
      241 caggtacagg ggcccgtgct ggttgaggac acttgtctgt gcttcaatgc ccttggaggg
      301 ctccccggcc cctacataaa gtggtttctg gagaagttaa agcctgaagg tctccaccag
      361 ctcctggccg ggttcgagga caagtcagcc tatgcgctct gcacgtttgc actcagcacc
      421 ggggacccaa gccagcccgt gcgcctgttc aggggccgga cctcgggccg gatcgtggca
      481 cccagaggct gccaggactt tggctgggac ccctgctttc agcctgatgg atatgagcag
      541 acgtacgcag agatgcctaa ggcggagaag aacgctgtct cccatcgctt ccgggccctg
      601 ctggagctgc aggagtactt tggcagtttg gcagcttgac ttctgcagct ggaggaggcc
      661 cctcaggccg gggatctggg gagggctagc ccaaaacctc ccgcatcggg caggcacccc
      721 ctgaagtact tccttcaggg tttccccttt gtgagggtgt cgagtagcct caccggcctg
      781 tctggaggag cagctggctc tgctctgaga aactctggca agtggacgcc attctcttgc
      841 ccttaggatt cactgctctc tcctacagcc gccaggcctg gggtcctgaa aggaccttgg
      901 gtggtaaagc tgtacttggt gggagtgagg gcgtggggag gaaccatgca aatcgccttc
      961 catggttttt aaatgcagta aataacattt ctggatgaga cttgtttcca aaataaacca
     1021 gctatatctg ttttgaa
//
