LOCUS       NM_025194               3376 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), transcript
            variant 1, mRNA.
ACCESSION   NM_025194
VERSION     NM_025194.3
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 3376)
  AUTHORS   Liu,J., Yuan,P., Pang,Y. and Su,D.
  TITLE     ITPKC polymorphism (rs7251246 T > C), coronary artery aneurysms,
            and thrombosis in patients with Kawasaki disease in a Southern Han
            Chinese population
  JOURNAL   Front Immunol 14, 1184162 (2023)
   PUBMED   37404818
  REMARK    GeneRIF: ITPKC polymorphism (rs7251246 T > C), coronary artery
            aneurysms, and thrombosis in patients with Kawasaki disease in a
            Southern Han Chinese population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3376)
  AUTHORS   Ji,M.L., Dong,J.Y., Xu,Y., Pan,Y.T., Fan,Z.D. and Yu,H.G.
  TITLE     Inositol-Triphosphate 3-Kinase C and DNA Methylation Involvement in
            NLRP3 Inflammasome Activation in Kawasaki Disease
  JOURNAL   Indian J Pediatr 90 (1), 22-28 (2023)
   PUBMED   35353363
  REMARK    GeneRIF: Inositol-Triphosphate 3-Kinase C and DNA Methylation
            Involvement in NLRP3 Inflammasome Activation in Kawasaki Disease.
REFERENCE   3  (bases 1 to 3376)
  AUTHORS   Bhattarai,D., Kumrah,R., Kaur,A., Kaur,A., Srivastava,P., Rawat,A.
            and Singh,S.
  TITLE     Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in
            North Indian children with Kawasaki disease
  JOURNAL   Pediatr Res 92 (4), 1090-1098 (2022)
   PUBMED   34952936
  REMARK    GeneRIF: Association of ITPKC gene polymorphisms rs28493229 and
            rs2290692 in North Indian children with Kawasaki disease.
REFERENCE   4  (bases 1 to 3376)
  AUTHORS   Zhu,L., Zheng,Y., Wu,T., He,J., Fang,X., Zhou,S., Wang,K. and
            Wang,N.
  TITLE     Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are
            associated with risk of colorectal cancer
  JOURNAL   Eur J Cancer Prev 30 (5), 357-363 (2021)
   PUBMED   33470690
  REMARK    GeneRIF: Immune-related genes STIM1, ITPKC and PELI1 polymorphisms
            are associated with risk of colorectal cancer.
REFERENCE   5  (bases 1 to 3376)
  AUTHORS   Lu,H.F., Wong,H.S., Chen,B.K., Liao,H.T., Hsu,Y.W., Ikegawa,S.,
            Cho,E.C., Hung,K.S. and Chang,W.C.
  TITLE     Integrative genomic analysis for the functional roles of ITPKC in
            bone mineral density
  JOURNAL   Biosci Rep 38 (6) (2018)
   PUBMED   30355649
  REMARK    GeneRIF: Our findings suggest that ITPKC is a susceptibility gene
            for bone mineral density (BMD), and rs2607420 may play an important
            role in the regulation of this gene
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3376)
  AUTHORS   Chi,H., Huang,F.Y., Chen,M.R., Chiu,N.C., Lee,H.C., Lin,S.P.,
            Chen,W.F., Lin,C.L., Chan,H.W., Liu,H.F., Huang,L.M. and Lee,Y.J.
  TITLE     ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese
            children
  JOURNAL   Hum Mol Genet 19 (6), 1147-1151 (2010)
   PUBMED   20045869
  REMARK    GeneRIF: A statistically significant association was not found
            between the ITPKC gene single-nucleotide polymorphism rs28493229
            and Kawasaki disease or coronary artery lesions in Taiwanese
            children.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3376)
  AUTHORS   Onouchi,Y., Gunji,T., Burns,J.C., Shimizu,C., Newburger,J.W.,
            Yashiro,M., Nakamura,Y., Yanagawa,H., Wakui,K., Fukushima,Y.,
            Kishi,F., Hamamoto,K., Terai,M., Sato,Y., Ouchi,K., Saji,T.,
            Nariai,A., Kaburagi,Y., Yoshikawa,T., Suzuki,K., Tanaka,T.,
            Nagai,T., Cho,H., Fujino,A., Sekine,A., Nakamichi,R., Tsunoda,T.,
            Kawasaki,T., Nakamura,Y. and Hata,A.
  TITLE     ITPKC functional polymorphism associated with Kawasaki disease
            susceptibility and formation of coronary artery aneurysms
  JOURNAL   Nat Genet 40 (1), 35-42 (2008)
   PUBMED   18084290
  REMARK    GeneRIF: ITPKC acts as a negative regulator of T-cell activation
            through the Ca2+/NFAT signaling pathway, and the C allele may
            contribute to immune hyper-reactivity in Kawasaki disease.
REFERENCE   8  (bases 1 to 3376)
  AUTHORS   Nalaskowski,M.M., Windhorst,S., Stockebrand,M.C. and Mayr,G.W.
  TITLE     Subcellular localisation of human inositol 1,4,5-trisphosphate
            3-kinase C: species-specific use of alternative export sites for
            nucleo-cytoplasmic shuttling indicates divergent roles of the
            catalytic and N-terminal domains
  JOURNAL   Biol Chem 387 (5), 583-593 (2006)
   PUBMED   16740130
REFERENCE   9  (bases 1 to 3376)
  AUTHORS   Dewaste,V., Moreau,C., De Smedt,F., Bex,F., De Smedt,H.,
            Wuytack,F., Missiaen,L. and Erneux,C.
  TITLE     The three isoenzymes of human inositol-1,4,5-trisphosphate 3-kinase
            show specific intracellular localization but comparable Ca2+
            responses on transfection in COS-7 cells
  JOURNAL   Biochem J 374 (Pt 1), 41-49 (2003)
   PUBMED   12747803
  REMARK    GeneRIF: results highlight the potential role of the three isoforms
            of InsP3 3-kinase as direct InsP3 metabolizing enzymes and direct
            regulators of Ca2+ responses to extracellular signals
REFERENCE   10 (bases 1 to 3376)
  AUTHORS   Dewaste,V., Pouillon,V., Moreau,C., Shears,S., Takazawa,K. and
            Erneux,C.
  TITLE     Cloning and expression of a cDNA encoding human inositol
            1,4,5-trisphosphate 3-kinase C
  JOURNAL   Biochem J 352 Pt 2 (Pt 2), 343-351 (2000)
   PUBMED   11085927
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC060788.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025194.2.
            
            Summary: This gene encodes a member of the inositol
            1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes
            that catalyze the phosphorylation of inositol 1,4,5-trisphosphate
            to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to
            the nucleus and cytoplasm and has both nuclear import and nuclear
            export activity. Single nucleotide polymorphisms in this gene are
            associated with Kawasaki disease.[provided by RefSeq, Sep 2009].
            
            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 :: BC060788.1, SRR1803613.31729.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263370.3/ ENSP00000263370.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3376              BC060788.1         10-3385
FEATURES             Location/Qualifiers
     source          1..3376
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..3376
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /note="inositol-trisphosphate 3-kinase C"
                     /db_xref="GeneID:80271"
                     /db_xref="HGNC:HGNC:14897"
                     /db_xref="MIM:606476"
     exon            1..1179
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..2076
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /EC_number="2.7.1.127"
                     /note="isoform 1 is encoded by transcript variant 1;
                     inositol 1,4,5-trisphosphate 3-kinase C; InsP 3 kinase C;
                     IP3K C; IP3 3-kinase C; insP 3-kinase C"
                     /codon_start=1
                     /product="inositol-trisphosphate 3-kinase C isoform 1"
                     /protein_id="NP_079470.1"
                     /db_xref="CCDS:CCDS12563.1"
                     /db_xref="GeneID:80271"
                     /db_xref="HGNC:HGNC:14897"
                     /db_xref="MIM:606476"
                     /translation="MRRCPCRGSLNEAEAGALPAAARMGLEAPRGGRRRQPGQQRPGP
                     GAGAPAGRPEGGGPWARTEGSSLHSEPERAGLGPAPGTESPQAEFWTDGQTEPAAAGL
                     GVETERPKQKTEPDRSSLRTHLEWSWSELETTCLWTETGTDGLWTDPHRSDLQFQPEE
                     ASPWTQPGVHGPWTELETHGSQTQPERVKSWADNLWTHQNSSSLQTHPEGACPSKEPS
                     ADGSWKELYTDGSRTQQDIEGPWTEPYTDGSQKKQDTEAARKQPGTGGFQIQQDTDGS
                     WTQPSTDGSQTAPGTDCLLGEPEDGPLEEPEPGELLTHLYSHLKCSPLCPVPRLIITP
                     ETPEPEAQPVGPPSRVEGGSGGFSSASSFDESEDDVVAGGGGASDPEDRSGSKPWKKL
                     KTVLKYSPFVVSFRKHYPWVQLSGHAGNFQAGEDGRILKRFCQCEQRSLEQLMKDPLR
                     PFVPAYYGMVLQDGQTFNQMEDLLADFEGPSIMDCKMGSRTYLEEELVKARERPRPRK
                     DMYEKMVAVDPGAPTPEEHAQGAVTKPRYMQWRETMSSTSTLGFRIEGIKKADGTCNT
                     NFKKTQALEQVTKVLEDFVDGDHVILQKYVACLEELREALEISPFFKTHEVVGSSLLF
                     VHDHTGLAKVWMIDFGKTVALPDHQTLSHRLPWAEGNREDGYLWGLDNMICLLQGLAQ
                     S"
     exon            1180..1279
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1493
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..1698
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..1800
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /inference="alignment:Splign:2.1.0"
     exon            1801..1872
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /inference="alignment:Splign:2.1.0"
     exon            1873..3376
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3353..3358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /note="hexamer: AATAAA"
     polyA_site      3376
                     /gene="ITPKC"
                     /gene_synonym="IP3-3KC; IP3KC"
                     /note="major polyA site"
ORIGIN      
        1 gaagcccgaa ccgaaggagc gggcatgagg cgctgcccgt gccgtgggag cctgaacgag
       61 gcggaggccg gggcgctgcc cgcggcggcc cgcatgggac tggaggcgcc gcgaggaggg
      121 cggcggcggc agccgggaca gcagcgacct gggcccggcg caggggcccc ggcggggcgg
      181 ccggaggggg gcgggccctg ggcccggaca gaggggtcca gcctccacag cgagcctgag
      241 agggccggcc tcgggcctgc gccggggaca gagagtccgc aggcagaatt ctggacagac
      301 ggacagactg agcccgcggc agctggcctt ggagtagaga ccgagaggcc caagcaaaag
      361 acggagccag acaggtccag cctccggacg catctagaat ggagctggtc agagctggag
      421 acgacttgtc tttggacgga gaccgggaca gatggccttt ggactgatcc gcacaggtcc
      481 gacctccagt ttcagcccga ggaggccagc ccctggacac agccaggggt tcatgggccc
      541 tggacagagc tggaaacgca tgggtcacag actcagccag agagggtcaa gtcctgggct
      601 gataacctct ggacccacca gaacagttcc agcctccaga ctcacccaga aggagcctgt
      661 ccctcaaaag agccaagtgc tgatggctcc tggaaagaat tgtatactga tggctccagg
      721 acacaacagg atattgaagg tccctggaca gagccatata ctgatggctc ccagaaaaaa
      781 caggatactg aagcagccag gaaacagcct ggcactggtg gtttccaaat acaacaggat
      841 actgatggct cctggacaca acctagcact gacggttccc agacagcacc tgggacagac
      901 tgcctcttgg gagagcctga ggatggccca ttagaggaac cagagcctgg agaattgctg
      961 actcacctgt actctcacct gaagtgtagc cccctgtgcc ctgtgccccg cctcatcatt
     1021 acccctgaga cccctgagcc tgaggcccag ccagtgggac ccccctcccg ggttgagggg
     1081 ggcagcggcg gcttctcctc tgcctcttct ttcgacgagt ctgaggatga cgtggtggcc
     1141 gggggcggag gtgccagcga tcccgaggac aggtctggga gcaaaccctg gaagaagctg
     1201 aagacagttc tgaagtattc accctttgtg gtctccttcc gaaaacacta cccttgggtc
     1261 cagctttctg gacatgctgg gaacttccag gcaggagagg atggtcggat tctgaaacgt
     1321 ttctgtcagt gtgagcagcg cagcctggag cagctgatga aagacccgct gcgacctttc
     1381 gtgcctgcct actatggcat ggtgctgcag gatggccaga ccttcaacca gatggaagac
     1441 ctcctggctg actttgaggg cccctccatt atggactgca agatgggcag caggacctat
     1501 ctggaagagg agctagtgaa ggcacgggaa cgtccccgtc cccggaagga catgtatgag
     1561 aagatggtgg ctgtggaccc tggggcccct acccctgagg agcatgccca gggtgcagtc
     1621 accaagcccc gctacatgca gtggagggaa accatgagct ccacctctac cctgggcttc
     1681 cggatcgagg gcatcaagaa ggcagatggg acctgtaaca ccaacttcaa gaagacgcag
     1741 gcactggagc aggtgacaaa agtgctggag gacttcgtgg atggagacca cgtcatcctg
     1801 caaaagtacg tggcatgcct agaagaactt cgtgaagctc tggagatctc ccccttcttc
     1861 aagacccacg aggtggtagg cagctccctc ctcttcgtgc acgaccacac cggcctggcc
     1921 aaggtctgga tgatagactt cggcaagacg gtggccttgc ccgaccacca gacgctcagc
     1981 cacaggctgc cctgggctga gggcaaccgt gaggacggct acctctgggg cctggacaac
     2041 atgatctgcc tcctgcaggg gctggcacag agctgagctg ctcagccacc atcaggttaa
     2101 ttggatggcg ccagtctggc tggaggagcc ctgagatgcc atgggaggcc tgaggttggc
     2161 cacgggggag ctggcctcca gggacgggag agattgtgtc atgtgccaca cgagaccaac
     2221 gtggaaaagt ctgaagggcc ttgggagacc aggtagcacc tggccccatc atgatgcagg
     2281 ggttttgggg acctggaagg aaggtgatga ggcagtgagt cagaaaaacc agaacggggt
     2341 ccccggatct gccgggaagg cttctgaggg gctgccctga gagcattcag ttcacatgtc
     2401 acagggtatg gtgtgacagg gtgcctgtgg acacatgaat cacttctaac ctgcctccct
     2461 gtcagcctcc aggctgccag ctggctgagg ccagggactg ggtcaggctc atctgtggcg
     2521 cctcagaggg tcagcatcat tggtgaacag atgcaggcgc tgctggacca tctggggaga
     2581 gtgacagtcc atgtcttcac cagggagcca tttgagtgct gagcgacaag aggctcagag
     2641 ggcatgaccc catgggactg gatgcggcct gagggctgat accgctgggc ggtatcctgc
     2701 cctgctgtgg ccctgtggga tcctccgtgt tcctcggcgg actctgctga cctcctgcag
     2761 acccaaacca cagccacatc ccagcttctg tgccagcact gtgacagtac ctcgctcctc
     2821 tgtgcaccag atccggcctc aggacttaca cctcctgcct gacccccagg cttctctctc
     2881 ctttctccca gcaaactgca gtggcagaaa ggaggttcag aggctgggaa agtgggcctc
     2941 cccttgcaac tcagagctgc tgcactcagg agggccccat ccaatcccgg gcccctgcag
     3001 ggaaaagcgc tgggtgtgtg tcagaggcgc agggtgggtg gggctgccag ccaggaccct
     3061 ggcctgcagc ctgatccaaa ccaaagactg tagaaccctg gggtgtggct aacggcccct
     3121 ccagcaccca tagccaggtc ttcctggccc ttgaggctgg gctggcggac aggcacctac
     3181 ctcttcctta agctgaagct cccacactgt cttccagggc tgaggagatg ctctcctttt
     3241 ctactgacca tcttgatact tatttatacg agaggcagtt gctggacggg gtagtactgg
     3301 gaagcaggag gcagaatggc tctgctgagc ctcctaccca tgacaacacc ccaataaaca
     3361 gaacattcag agccaa
//
