LOCUS       NM_014216               6188 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1),
            transcript variant 1, mRNA.
ACCESSION   NM_014216 XM_005267587
VERSION     NM_014216.6
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 6188)
  AUTHORS   Guan,Z., Liang,Y., Zhu,Z., Yang,A., Li,S., Wang,X. and Wang,J.
  TITLE     Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube
            Defects: a Population-Based Study
  JOURNAL   Reprod Sci 30 (5), 1585-1593 (2023)
   PUBMED   36323916
  REMARK    GeneRIF: Genetic Effects of ITPK1 Polymorphisms on the Risk of
            Neural Tube Defects: a Population-Based Study.
REFERENCE   2  (bases 1 to 6188)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 6188)
  AUTHORS   Desfougeres,Y., Wilson,M.S.C., Laha,D., Miller,G.J. and Saiardi,A.
  TITLE     ITPK1 mediates the lipid-independent synthesis of inositol
            phosphates controlled by metabolism
  JOURNAL   Proc Natl Acad Sci U S A 116 (49), 24551-24561 (2019)
   PUBMED   31754032
  REMARK    GeneRIF: ITPK1 role in the lipid-independent synthesis of inositol
            phosphates.
REFERENCE   4  (bases 1 to 6188)
  AUTHORS   Dovey,C.M., Diep,J., Clarke,B.P., Hale,A.T., McNamara,D.E., Guo,H.,
            Brown,N.W. Jr., Cao,J.Y., Grace,C.R., Gough,P.J., Bertin,J.,
            Dixon,S.J., Fiedler,D., Mocarski,E.S., Kaiser,W.J., Moldoveanu,T.,
            York,J.D. and Carette,J.E.
  TITLE     MLKL Requires the Inositol Phosphate Code to Execute Necroptosis
  JOURNAL   Mol Cell 70 (5), 936-948 (2018)
   PUBMED   29883610
REFERENCE   5  (bases 1 to 6188)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 6188)
  AUTHORS   Sun,Y., Wilson,M.P. and Majerus,P.W.
  TITLE     Inositol 1,3,4-trisphosphate 5/6-kinase associates with the COP9
            signalosome by binding to CSN1
  JOURNAL   J Biol Chem 277 (48), 45759-45764 (2002)
   PUBMED   12324474
REFERENCE   7  (bases 1 to 6188)
  AUTHORS   Ho,M.W., Yang,X., Carew,M.A., Zhang,T., Hua,L., Kwon,Y.U.,
            Chung,S.K., Adelt,S., Vogel,G., Riley,A.M., Potter,B.V. and
            Shears,S.B.
  TITLE     Regulation of Ins(3,4,5,6)P(4) signaling by a reversible
            kinase/phosphatase
  JOURNAL   Curr Biol 12 (6), 477-482 (2002)
   PUBMED   11909533
REFERENCE   8  (bases 1 to 6188)
  AUTHORS   Wilson,M.P., Sun,Y., Cao,L. and Majerus,P.W.
  TITLE     Inositol 1,3,4-trisphosphate 5/6-kinase is a protein kinase that
            phosphorylates the transcription factors c-Jun and ATF-2
  JOURNAL   J Biol Chem 276 (44), 40998-41004 (2001)
   PUBMED   11533064
REFERENCE   9  (bases 1 to 6188)
  AUTHORS   Yang,X. and Shears,S.B.
  TITLE     Multitasking in signal transduction by a promiscuous human
            Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase
  JOURNAL   Biochem J 351 Pt 3 (Pt 3), 551-555 (2000)
   PUBMED   11042108
REFERENCE   10 (bases 1 to 6188)
  AUTHORS   Wilson,M.P. and Majerus,P.W.
  TITLE     Isolation of inositol 1,3,4-trisphosphate 5/6-kinase, cDNA cloning
            and expression of the recombinant enzyme
  JOURNAL   J Biol Chem 271 (20), 11904-11910 (1996)
   PUBMED   8662638
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL110118.7, BX407816.2,
            BX420122.2, BC018192.1, AF279372.1, AA770154.1 and AL117192.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014216.5.
            
            Summary: This gene encodes an enzyme that belongs to the inositol
            1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the
            synthesis of inositol tetraphosphate, and downstream products,
            inositol pentakisphosphate and inositol hexakisphosphate. Inositol
            metabolism plays a role in the development of the neural tube.
            Disruptions in this gene are thought to be associated with neural
            tube defects. A pseudogene of this gene has been identified on
            chromosome X. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Both variants 1 and
            2 encode the same isoform.
            
            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 :: BC018192.1, SRR11853566.8714.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267615.11/ ENSP00000267615.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AL110118.7         106869-106874
            7-43                BX407816.2         1-37
            44-122              BX420122.2         37-115
            123-1863            BC018192.1         1-1741
            1864-3235           AF279372.1         1633-3004
            3236-3379           AA770154.1         14-157              c
            3380-6188           AL117192.5         150222-153030
FEATURES             Location/Qualifiers
     source          1..6188
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     gene            1..6188
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /note="inositol-tetrakisphosphate 1-kinase"
                     /db_xref="GeneID:3705"
                     /db_xref="HGNC:HGNC:6177"
                     /db_xref="MIM:601838"
     exon            1..154
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            155..391
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     CDS             297..1541
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /EC_number="2.7.1.134"
                     /EC_number="2.7.1.159"
                     /note="isoform a is encoded by transcript variant 1;
                     ins(1,3,4)P(3) 5/6-kinase; inositol 1,3,4-trisphosphate
                     5/6-kinase"
                     /codon_start=1
                     /product="inositol-tetrakisphosphate 1-kinase isoform a"
                     /protein_id="NP_055031.2"
                     /db_xref="CCDS:CCDS9907.1"
                     /db_xref="GeneID:3705"
                     /db_xref="HGNC:HGNC:6177"
                     /db_xref="MIM:601838"
                     /translation="MQTFLKGKRVGYWLSEKKIKKLNFQAFAELCRKRGMEVVQLNLS
                     RPIEEQGPLDVIIHKLTDVILEADQNDSQSLELVHRFQEYIDAHPETIVLDPLPAIRT
                     LLDRSKSYELIRKIEAYMEDDRICSPPFMELTSLCGDDTMRLLEKNGLTFPFICKTRV
                     AHGTNSHEMAIVFNQEGLNAIQPPCVVQNFINHNAVLYKVFVVGESYTVVQRPSLKNF
                     SAGTSDRESIFFNSHNVSKPESSSVLTELDKIEGVFERPSDEVIRELSRALRQALGVS
                     LFGIDIIINNQTGQHAVIDINAFPGYEGVSEFFTDLLNHIATVLQGQSTAMAATGDVA
                     LLRHSKLLAEPAGGLVGERTCSASPGCCGSMMGQDAPWKAEADAGGTAKLPHQRLGCN
                     AGVSPSFQQHCVASLATKASSQ"
     exon            392..416
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            417..542
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            543..660
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            661..759
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            760..800
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            801..966
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1034
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1197
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..6188
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3216..3221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /note="hexamer: AATAAA"
     polyA_site      3240
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /note="major polyA site"
     regulatory      3332..3337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /note="hexamer: AATAAA"
     polyA_site      3338
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
     polyA_site      3385
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
     regulatory      6166..6171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
                     /note="hexamer: AATAAA"
     polyA_site      6188
                     /gene="ITPK1"
                     /gene_synonym="ITRPK1"
ORIGIN      
        1 gcttcctcgc cgccgcgggc tcaagcgggg cggccgggcc agcgcggggc ggcggcgggc
       61 aggggcggcg agtgcgcggg cgctcgccgc cgcccttctc ggcgggcagc gcgcgaggac
      121 caggccgagg aggaagtggc ggcggcggcg gcgggactgc gcgccccagc tccgatcccc
      181 gttccgcgtc cccgccgccg ggaggaggtg cccactcgct cgcggcgcgc gccggccgcc
      241 agactcggcc tgtgggcgat ttcctccgga cccaggctcc ccgcccgagg aggaagatgc
      301 agacctttct gaaagggaag agagttggct actggctgag cgagaagaaa atcaagaagc
      361 tgaatttcca ggccttcgcc gagctgtgca ggaagcgagg gatggaggtt gtgcagctga
      421 accttagccg gccgatcgag gagcagggcc ccctggacgt catcatccac aagctgactg
      481 acgtcatcct tgaagccgac cagaatgata gccagtccct ggagctggtg cacaggttcc
      541 aggagtacat cgatgcccac cctgagacca tcgtcctgga cccgctccct gccatcagaa
      601 ccctgcttga ccgctccaag tcctatgagc tcatccggaa gattgaggcc tacatggaag
      661 acgacaggat ctgctcgcca cccttcatgg agctcacgag cctgtgcggg gatgacacca
      721 tgcggctgct ggagaagaac ggcttgactt tcccattcat ttgcaaaacc agagtggctc
      781 atggcaccaa ctctcacgag atggctatcg tgttcaacca ggagggcctg aacgccatcc
      841 agccaccctg cgtggtccag aatttcatca accacaacgc cgtcctgtac aaggtgttcg
      901 tggttggcga gtcctacacc gtggtccaga ggccctcact caagaacttc tccgcaggca
      961 catcagaccg tgagtccatc ttcttcaaca gccacaacgt gtcaaagccg gagtcgtcat
     1021 cggtcctgac ggagctggac aagatcgagg gcgtgttcga gcggccgagc gacgaggtca
     1081 tccgggagct ctcccgggcc ctgcggcagg cactgggcgt gtcactcttc ggcatcgaca
     1141 tcatcatcaa caaccagaca gggcagcacg ccgtcattga catcaatgcc ttcccaggct
     1201 acgagggcgt gagcgagttc ttcacagacc tcctgaacca catcgccact gtcctgcagg
     1261 gccagagcac agccatggca gccacagggg acgtggccct gctgaggcac agcaagcttc
     1321 tggccgagcc ggcgggcggc ctggtgggcg agcggacatg cagcgccagc cccggctgct
     1381 gcggcagcat gatgggccag gacgcgccct ggaaggctga ggccgacgcg ggcggcaccg
     1441 ccaagctgcc gcaccagaga ctcggctgca acgccggcgt gtcgcccagc ttccagcagc
     1501 attgtgtggc ctccctggcc accaaggcct cctcccagta gccacggagc cgggacccag
     1561 aggggcagcg cagggcgcag agcacacccg ctgggccagc agctcccaac ggcgatgcta
     1621 ctactaagaa tccccagtga tctgattctt ctgtttttta atttttaacc tgattctctg
     1681 atgtcatgat ctaaatgagg ggtagtgggg gatggaagag agtaccaggt ggtccaccgt
     1741 tggggagtgg ggccgtccgc ctgctctcta ctgtgcagac ctcctaactg agtttacaca
     1801 cgcttgtgtt tgcaacacta ggtctggatg ggaggtgagg ggtgtgcgta tggctgccat
     1861 gccagtgtct gtgcacatcc ctgtctgttg gtctccatgg ccactgtgga ccgggaccct
     1921 tgggggaagc ctgcccatgt cgggctgtgg gaggctgatc ggtgcatgtg agagtggctt
     1981 cccttctgcc tgactcccca ctccctgacc tgccccttcc ttgtttttcc tcctactggt
     2041 ctccaccaag gctttgttag cccccaccct gcctggtgtg cagctaaccc ctccctcccc
     2101 acagccagag gaggccacag acccctcagg ggagttccgc gctggggtct gggctgtgct
     2161 ccctcactaa agggaaggaa aggaagctgg gcgtcctctg ggccccccaa cacacgtccc
     2221 atttagccct gcacagcggt ctccttcccc taagccagca ctgctgctcc ctggagcccg
     2281 ggaaggaggc tgcctggctg gaggcccgag ccgatggcgc ctgtgctgag gatttgtgct
     2341 gtgatttggg caaatcattc caggtctttg ggcctccacc cccttgtctc tagtggacat
     2401 ttgagatcag agagcaccac agggctggct ttgtgcccta acccctggga tgcagcctgc
     2461 ctttccataa agtcacctag gtgaggatag gcgcgggagc ctcggcatga caccatggag
     2521 atcggggccc tcttcccagt gggttcactc cttttcacac ctgctgggtc cctcctcacc
     2581 cagcaggcct ggtccacctc tcattgcaag ccccaagcac tgagccagca ggtgccaggg
     2641 agccacccgc cccccatcgc ttctgcacac ctcagactca ccccatcacc ttggcagcaa
     2701 agcactggct ctgccgtctg acccctgatc caggcagccc cctctgcaga gaaaagggtt
     2761 ggggagaagc ctctgcagtc ctggaagatg tggggtgctg ggtgagaggc atcagccccc
     2821 acaagtatgt ttttgtgtct taagatagca gtttactttg aaaaagtgaa aaaggcttcc
     2881 gggctgtcct ctgcccagtg agatggagga cgctagagaa agtgctgagt gtcccgagag
     2941 aggcccccga gccagtgcat ggaggtcctt cggcctggct cagctgggct gcaggatgcc
     3001 cactttgagg agggaggcac agggcttggg cgaggggcag aggccatcag aactgcccgg
     3061 cttttttgga aactgaggac ccaacaacta accacgttta cacgacttga gttttgaacc
     3121 ccgattaatg tctgtacgtc acctttccta gttctgaccc tgagccctgg ggaacaggaa
     3181 agcgtggctg gcctcttgca ctgctttgtc tccaaaataa actactgaaa tcaaaccgca
     3241 tttcacacgt gtttacacat gttgctcaag tttgttatgt catactccca gtccttaaaa
     3301 gacgtttaat aaaacagctt taccttttaa aaataaaatt tcaatcccag tctgcctcag
     3361 gtacgggtgg gggtgtgcag cgtgactcct ggctgtgttc ctgtaccgtt tgtggcctcc
     3421 ggggtcttgc gcgtccaggg cccagatacc gagtaactgc catgtggtgt cgtggtggcg
     3481 tccataggcc tccgtggtgg ggcgggggcg gggctgtggg tgtgcagggc agctgcattt
     3541 tccaagagtg gagatggagg atggagattt gcttcgtaaa ggcctgggag ctacatggga
     3601 ggtagggagg ggccagccac acccagggct ggggggccgg tggactctgc ccagtgaagc
     3661 caggggagtg tcagcaatga ggggcctgga cagcgacgcg ggacccgcac ctgggagcgg
     3721 cagagatgga gcccagctcg ctaaacgtac cctaagggtg cacgctgacc atctttgatc
     3781 cctggacagt gtccatagag ttgtctcccc ttcggtcaca ttgtccctgg ccttggagtt
     3841 tctgcctcag ggaaagaccc actaaaacca cccgggctct ggcggcctcc tcttctccag
     3901 agcatggtgg cgctgcctcc tgagcagagt cactgagagt gtctgggtcc aaggaaggga
     3961 cccacttagc aaaggttgtt gtgtggtgct gtgcaggcac ggcgcctgga gttggccccg
     4021 ccagcatcgg ggtggcttgg ggctctggtt cctaagcttc tgcttctgag ttggtcagca
     4081 cgttggctct gcgccctgca gtgcctgtct tgatggtggt ccctggatgt gctgaagggc
     4141 tccaggagca aggggccaga ccacactttg gctgagtcct tgggtagttt cagagggtca
     4201 cctgcacagt ctgcattgag caccctgggg ctgaggccgt gggtcaagtt ctgcctgaca
     4261 gtgctttgat tatatggtga tgtgattctg caaacataac cccccaactg agtgccagct
     4321 gctgggtgtc cccaccccaa gagccaaggg gaggccaccc tggaactggt gctttgccct
     4381 tggtgtcatg gaggtgtctg ggtccacacg tggtgggtgg gctgggcctg cagtcaccca
     4441 gcatggccgg cgggattgga cccagctgca acctggcagg ttccatgggg cttcctgtgc
     4501 ctgggcctgc ctgtgtctca tgcctgtcaa taaaggagaa agcaacctgg gaaaaacatt
     4561 cctctctgta cccaggggac tgccaagtgt gctttataga aggctggaag accgactgaa
     4621 gtaggaagct gtcacatgtt tgagccaact gagcaaagca gctgttgcct gccagacagc
     4681 caccccaaga ccaagggagc cagcctgtcg tttgtccttc tagcctggaa gaccagttct
     4741 tggctcttgg gcactcacat tggccactgg ccacaactgc tgaatggctt cactaatgtc
     4801 cctggggtct gtatctgccc tctcttctat tccctagaaa ctctggccgg gcatggcggc
     4861 tcacgcctgt catcccagca cttagggagg ctgaggcagg tggatcacaa ggtcaagaga
     4921 tcgacaccat cctggccaac atggtgaaac cccatctcta ctaaaaatac aaaaattagc
     4981 tggacatggt ggtgggcgcc tgtagtccca gctacttggg aggctgaggc aggagaattg
     5041 cttgaactcg ggaggcgtag gttgcagtga gccaagatcg caccactgca ctccagcctg
     5101 gcaacagagc aagactcctc aaaaaacaaa caaacaaaca aacaaactct gatcattcac
     5161 ccggtgggat ccccggcagc tccttctcct tcccgagctg tggctcatgg gccattggat
     5221 tcagagacct tgagctgggt gctggctgcc ctaaaggagc acgacccctc cagcctggtg
     5281 accgggaggc agagaagtgc agctgtcctt gacaaaggcc cagcctctgc tgcctcaggc
     5341 cagcctggcc acaccccgat gccacagtca tctgccccgc ccaggcataa gcctgactca
     5401 ggtgatacag gcgaggcttc tcccatgggt cctccccttg tgagaaaggg tctgtgctgt
     5461 gtaccttctc tctgcacagc cattgtcagt gtggtttgga gtgagtgagc ctcccgcact
     5521 gctcagggga gagctggtga gcatgactcc atggcctcct gctggttggg gtcttcttct
     5581 gattctcacc cgcaggagca cccagacccc cccttttcag aaatgattac attttccctt
     5641 caagagtcat ctgtgacctg gtggtgtgga gggactgtcc cctcctgcag cctggccgac
     5701 ccccttcctc cagggctgtg tggaatcacc tctcagaagc tcactctgaa aagccactca
     5761 cagggatttc accaggatgt tgctgttcct gccgacacct gggctttgtg acaaatgctg
     5821 tttgcttcaa gctgttcaca agcaacttca ccagaatccc aagctggttc gtacttaatt
     5881 tgtgtacata catatgcata atatacatga ccatgtatga gatacagaca ccatggcttc
     5941 tgtccattgg ctcattcgcc tggtcgcatg ttcactccat gaggttagga cactgcgggt
     6001 ggctttggga tgggtggttt cagggacaag gtgtcgctat gatctctgta tttgctaact
     6061 agtcttgttt tgatttctaa cggtctagtg gagtacagtt aatgttgtgt ttatttctgt
     6121 aactgtaggg gtggagtata aacctaactt ttggaaacat gaagaaataa acaatagcgc
     6181 cagccgtt
//
