LOCUS       NP_258412                194 aa            linear   PRI 27-APR-2025
DEFINITION  inosine triphosphate pyrophosphatase isoform a [Homo sapiens].
ACCESSION   NP_258412
VERSION     NP_258412.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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  (residues 1 to 194)
  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 (residues 1 to 194)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     Protein         1..194
                     /product="inosine triphosphate pyrophosphatase isoform a"
                     /EC_number="3.6.1.9"
                     /note="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)"
                     /calculated_mol_wt=21315
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000255|HAMAP-Rule:MF_03148,
                     ECO:0000269|Ref.9; propagated from UniProtKB/Swiss-Prot
                     (Q9BY32.2)"
     Region          10..188
                     /region_name="HAM1"
                     /note="NTPase/HAM1. This family consists of the HAM1
                     protein and pyrophosphate-releasing xanthosine/ inosine
                     triphosphatase. HAM1 protects the cell against mutagenesis
                     by the base analog 6-N-hydroxylaminopurine (HAP) in E.
                     Coli and S. cerevisiae. A...; cd00515"
                     /db_xref="CDD:238285"
     Site            order(16,18..19,22,73..75,88..89,114,149,151..152,
                     177..178)
                     /site_type="active"
                     /db_xref="CDD:238285"
     Site            order(44..46,80..81,84,87,90)
                     /site_type="other"
                     /note="dimerization interface [polypeptide binding]"
                     /db_xref="CDD:238285"
     CDS             1..194
                     /gene="ITPA"
                     /gene_synonym="C20orf37; DEE35; dJ794I6.3; HLC14-06-P;
                     ITPase; My049; NTPase"
                     /coded_by="NM_033453.4:55..639"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13051.1"
                     /db_xref="GeneID:3704"
                     /db_xref="HGNC:HGNC:6176"
                     /db_xref="MIM:147520"
ORIGIN      
        1 maaslvgkki vfvtgnakkl eevvqilgdk fpctlvaqki dlpeyqgepd eisiqkcqea
       61 vrqvqgpvlv edtclcfnal gglpgpyikw fleklkpegl hqllagfedk sayalctfal
      121 stgdpsqpvr lfrgrtsgri vaprgcqdfg wdpcfqpdgy eqtyaempka eknavshrfr
      181 allelqeyfg slaa
//
