LOCUS       NM_054111               2618 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript
            variant 1, mRNA.
ACCESSION   NM_054111
VERSION     NM_054111.5
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 2618)
  AUTHORS   Dato,S., Crocco,P., De Rango,F., Iannone,F., Maletta,R.,
            Bruni,A.C., Saiardi,A., Rose,G. and Passarino,G.
  TITLE     IP6K3 and IPMK variations in LOAD and longevity: Evidence for a
            multifaceted signaling network at the crossroad between
            neurodegeneration and survival
  JOURNAL   Mech Ageing Dev 195, 111439 (2021)
   PUBMED   33497757
  REMARK    GeneRIF: IP6K3 and IPMK variations in LOAD and longevity: Evidence
            for a multifaceted signaling network at the crossroad between
            neurodegeneration and survival.
REFERENCE   2  (bases 1 to 2618)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2618)
  AUTHORS   Crocco,P., Saiardi,A., Wilson,M.S., Maletta,R., Bruni,A.C.,
            Passarino,G. and Rose,G.
  TITLE     Contribution of polymorphic variation of inositol hexakisphosphate
            kinase 3 (IP6K3) gene promoter to the susceptibility to late onset
            Alzheimer's disease
  JOURNAL   Biochim Biophys Acta 1862 (9), 1766-1773 (2016)
   PUBMED   27345265
  REMARK    GeneRIF: Two SNPs in the 5'-flanking promoter region of the IP6K3
            gene were found to be associated with sporadic late onset
            Alzheimer's disease. Characterizing the functionality of the two
            polymorphisms by luciferase assay revealed that one of them
            (rs28607030) affects IP6K3 promoter activity, with the G allele
            showing an increased activity.
REFERENCE   4  (bases 1 to 2618)
  AUTHORS   Moritoh,Y., Oka,M., Yasuhara,Y., Hozumi,H., Iwachidow,K., Fuse,H.
            and Tozawa,R.
  TITLE     Inositol Hexakisphosphate Kinase 3 Regulates Metabolism and
            Lifespan in Mice
  JOURNAL   Sci Rep 6, 32072 (2016)
   PUBMED   27577108
  REMARK    GeneRIF: High levels of IP6K3 mRNA were found in myotubes and
            muscle tissues. In myotubes, IP6K3 was upregulated by dexamethasone
            treatment, which is known to inhibit glucose metabolism.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2618)
  AUTHORS   Rietveld,C.A., Esko,T., Davies,G., Pers,T.H., Turley,P.,
            Benyamin,B., Chabris,C.F., Emilsson,V., Johnson,A.D., Lee,J.J., de
            Leeuw,C., Marioni,R.E., Medland,S.E., Miller,M.B., Rostapshova,O.,
            van der Lee,S.J., Vinkhuyzen,A.A., Amin,N., Conley,D.,
            Derringer,J., van Duijn,C.M., Fehrmann,R., Franke,L., Glaeser,E.L.,
            Hansell,N.K., Hayward,C., Iacono,W.G., Ibrahim-Verbaas,C.,
            Jaddoe,V., Karjalainen,J., Laibson,D., Lichtenstein,P.,
            Liewald,D.C., Magnusson,P.K., Martin,N.G., McGue,M., McMahon,G.,
            Pedersen,N.L., Pinker,S., Porteous,D.J., Posthuma,D.,
            Rivadeneira,F., Smith,B.H., Starr,J.M., Tiemeier,H., Timpson,N.J.,
            Trzaskowski,M., Uitterlinden,A.G., Verhulst,F.C., Ward,M.E.,
            Wright,M.J., Davey Smith,G., Deary,I.J., Johannesson,M., Plomin,R.,
            Visscher,P.M., Benjamin,D.J., Cesarini,D. and Koellinger,P.D.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. doi:
            10.1073/pnas.1424631112.. PMID: 25572966]
REFERENCE   6  (bases 1 to 2618)
  AUTHORS   Yang,S.K., Hong,M., Zhao,W., Jung,Y., Baek,J., Tayebi,N., Kim,K.M.,
            Ye,B.D., Kim,K.J., Park,S.H., Lee,I., Lee,E.J., Kim,W.H.,
            Cheon,J.H., Kim,Y.H., Jang,B.I., Kim,H.S., Choi,J.H., Koo,J.S.,
            Lee,J.H., Jung,S.A., Lee,Y.J., Jang,J.Y., Shin,H.D., Kang,D.,
            Youn,H.S., Liu,J. and Song,K.
  TITLE     Genome-wide association study of Crohn's disease in Koreans
            revealed three new susceptibility loci and common attributes of
            genetic susceptibility across ethnic populations
  JOURNAL   Gut 63 (1), 80-87 (2014)
   PUBMED   23850713
REFERENCE   7  (bases 1 to 2618)
  AUTHORS   Kestenbaum,B., Glazer,N.L., Kottgen,A., Felix,J.F., Hwang,S.J.,
            Liu,Y., Lohman,K., Kritchevsky,S.B., Hausman,D.B., Petersen,A.K.,
            Gieger,C., Ried,J.S., Meitinger,T., Strom,T.M., Wichmann,H.E.,
            Campbell,H., Hayward,C., Rudan,I., de Boer,I.H., Psaty,B.M.,
            Rice,K.M., Chen,Y.D., Li,M., Arking,D.E., Boerwinkle,E., Coresh,J.,
            Yang,Q., Levy,D., van Rooij,F.J., Dehghan,A., Rivadeneira,F.,
            Uitterlinden,A.G., Hofman,A., van Duijn,C.M., Shlipak,M.G.,
            Kao,W.H., Witteman,J.C., Siscovick,D.S. and Fox,C.S.
  TITLE     Common genetic variants associate with serum phosphorus
            concentration
  JOURNAL   J Am Soc Nephrol 21 (7), 1223-1232 (2010)
   PUBMED   20558539
REFERENCE   8  (bases 1 to 2618)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2618)
  AUTHORS   Saiardi,A., Nagata,E., Luo,H.R., Snowman,A.M. and Snyder,S.H.
  TITLE     Identification and characterization of a novel inositol
            hexakisphosphate kinase
  JOURNAL   J Biol Chem 276 (42), 39179-39185 (2001)
   PUBMED   11502751
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC089389.1, AK289935.1 and
            AL139044.15.
            
            On Nov 22, 2018 this sequence version replaced NM_054111.4.
            
            Summary: This gene encodes a protein that belongs to the inositol
            phosphokinase (IPK) family. This protein is likely responsible for
            the conversion of inositol hexakisphosphate (InsP6) to
            diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also
            convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.
            Alternative splicing results in multiple transcript variants
            encoding the same protein.[provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056586.2, SRR1660803.221817.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155984 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293756.5/ ENSP00000293756.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-350               BC089389.1         81-430
            351-1259            AK289935.1         480-1388
            1260-2100           BC089389.1         1340-2180
            2101-2101           AL139044.15        107606-107606       c
            2102-2614           BC089389.1         2182-2694
            2615-2618           AL139044.15        107089-107092       c
FEATURES             Location/Qualifiers
     source          1..2618
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..2618
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /note="inositol hexakisphosphate kinase 3"
                     /db_xref="GeneID:117283"
                     /db_xref="HGNC:HGNC:17269"
                     /db_xref="MIM:606993"
     exon            1..148
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /inference="alignment:Splign:2.1.0"
     exon            149..526
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /inference="alignment:Splign:2.1.0"
     CDS             328..1560
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /EC_number="2.7.4.21"
                     /note="inositol hexaphosphate kinase 3; InsP6 kinase 3;
                     ATP:1D-myo-inositol-hexakisphosphate phosphotransferase"
                     /codon_start=1
                     /product="inositol hexakisphosphate kinase 3"
                     /protein_id="NP_473452.2"
                     /db_xref="CCDS:CCDS34435.1"
                     /db_xref="GeneID:117283"
                     /db_xref="HGNC:HGNC:17269"
                     /db_xref="MIM:606993"
                     /translation="MVVQNSADAGDMRAGVQLEPFLHQVGGHMSVMKYDEHTVCKPLV
                     SREQRFYESLPLAMKRFTPQYKGTVTVHLWKDSTGHLSLVANPVKESQEPFKVSTESA
                     AVAIWQTLQQTTGSNGSDCTLAQWPHAQLARSPKESPAKALLRSEPHLNTPAFSLVED
                     TNGNQVERKSFNPWGLQCHQAHLTRLCSEYPENKRHRFLLLENVVSQYTHPCVLDLKM
                     GTRQHGDDASEEKKARHMRKCAQSTSACLGVRICGMQVYQTDKKYFLCKDKYYGRKLS
                     VEGFRQALYQFLHNGSHLRRELLEPILHQLRALLSVIRSQSSYRFYSSSLLVIYDGQE
                     PPERAPGSPHPHEAPQAAHGSSPGGLTKVDIRMIDFAHTTYKGYWNEHTTYDGPDPGY
                     IFGLENLIRILQDIQEGE"
     exon            527..740
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /inference="alignment:Splign:2.1.0"
     exon            741..916
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1092
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..2618
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2581..2586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /note="hexamer: AATAAA"
     polyA_site      2618
                     /gene="IP6K3"
                     /gene_synonym="IHPK3; INSP6K3"
                     /note="major polyA site"
ORIGIN      
        1 agacctcccg caccagggct ctggtgaaca gcaaatgctc cacgctggga cgggccattg
       61 cctgatgcct gtacatggtg ggcactgaga gacaagattc ctgggccctg ccttccatac
      121 actccccacg atctcggagg aagctctgag gaccccgctg agaacccaca gacaggagga
      181 caactgcgct atgacagcaa taaaggccaa gaaggagaaa gttgaggacc gctgacagcc
      241 ccgtgtgctg ttgggagctg ccctttctac ttcaaacctt cctctagcag actgtgcagg
      301 gaccccccac caccaccatc tgccgccatg gttgtgcaaa acagcgcaga cgccggggac
      361 atgagggcag gcgtgcagct ggagcccttc ctgcaccagg tcggggggca catgagcgtg
      421 atgaagtatg acgagcatac ggtgtgcaag cccctcgtct cccgggagca gaggttctat
      481 gaatccctgc cgctggccat gaagcggttc accccacagt acaaaggtac cgtcacagtg
      541 cacctctgga aagacagcac aggccatctc agcttggttg ccaacccagt gaaggagagc
      601 caggagccct tcaaggtctc cacagagtcg gcggcggtgg ccatatggca gacgctccag
      661 cagaccaccg gcagcaatgg cagcgactgc acccttgccc agtggccgca tgcccagctg
      721 gcacgctcac ccaaggagag cccggccaag gctcttctga ggtccgagcc ccacctcaac
      781 actccagcct tctcgctggt ggaagacacc aacggaaacc aggttgagag gaagagcttc
      841 aacccgtggg gcctgcaatg ccaccaggcc cacctgaccc gcctgtgctc cgagtaccca
      901 gagaacaagc ggcatcggtt cttgttgctg gaaaatgtag tgtcacagta cacgcatccc
      961 tgtgtcctgg atctgaagat ggggacccgg cagcacggcg atgatgcatc ggaggagaag
     1021 aaggcccgcc acatgaggaa gtgtgcgcag agcacctcag cctgcctggg tgtgcgcatc
     1081 tgcggcatgc aggtttatca aacagataag aagtactttc tctgcaaaga caagtactat
     1141 ggaagaaaac tctcagtgga ggggttcaga caagccctct atcagttcct acataatgga
     1201 agccacctcc ggagggagct cctggagccc atcctgcacc agctccgggc cctcctctct
     1261 gtcattagga gccagagttc ataccgcttc tattccagct ctctccttgt catctatgat
     1321 gggcaggaac caccagaaag agccccaggc agcccgcatc ctcacgaggc tccccaggca
     1381 gcccacggta gctctcccgg tggtctcacc aaggttgaca tccgcatgat tgactttgct
     1441 cataccacat acaagggcta ctggaatgag cacaccacct acgatggacc agaccctggc
     1501 tatatttttg gcctggaaaa cctcatcagg atcctgcagg atatccaaga gggagaatga
     1561 aacttcctgg gcttatctgg attcttctgg gctatagatc tcaaatagag acctgttggt
     1621 tgctagggta gtccagacac cccttagatg tcttcataat agtcctatct accttcaaaa
     1681 accatctcta tatatggcag actatattaa cagctgctga acaaatcagc tctggaggtg
     1741 attccacatc ccctggcatt atgctctaat gctgctcatc ggagaacaga cagccaggat
     1801 aaagtggcac cttctggagt acactggagg gggcagccca agttagaggc cagcattgct
     1861 gacattctgg aatatttgca tctaaaaatg tttactcgtt gccatgctgc agtccgcaca
     1921 agctgtgagg cagaaaactt gacttgaagc agccttgaag agtgagttca tgagctcatg
     1981 gtttttctcc ttgtatggac tgctcgctcc aagggcaggc agagctcatg aatgcctctt
     2041 atcttcctaa gcggagtttt aggtgacaca ggatgaagca gaagagatct acccatctca
     2101 tctgctctgc acccagcttc taagtggaca aagccaagcc caggcatgag ctctggcaaa
     2161 gcaagacccc agattctcca tttttgcctg tggaaaggag ggtcccttta caggcttttt
     2221 tttccttttt ttcccccaaa atctcttaaa atgaggaatc tcttagcaga ctttggagtt
     2281 ccccattctg ccacattctg accatgagac gcggcttgca gtgggggtga acgcacataa
     2341 aaagggacca ctgacgtcct gctctactct ctgctttcta tttatttatt ttgggggtgg
     2401 gttggggagt cagaagaacc tggaggacgg aggaaaccag gggcaatgtt tacaagactg
     2461 gtggacaagt gtaaatatgg aataagaaca aacagttcta attaattcct tcttctgcag
     2521 tatggaaacc tattacgatg cccttgagtc aagcactgag atacgttacc caattaggga
     2581 aataaatttg ttaataaaat tgctgaggtc accagtga
//
