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Q96DU7

- IP3KC_HUMAN

UniProt

Q96DU7 - IP3KC_HUMAN

Protein

Inositol-trisphosphate 3-kinase C

Gene

ITPKC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate.By similarity

    Catalytic activityi

    ATP + 1D-myo-inositol 1,4,5-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate.

    Enzyme regulationi

    Activated by calcium/calmodulin. Inhibited by high concentrations of the substrate Ins(1,2,4)P3, and allosterically activated by the product Ins(1,3,4,5)P4.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei431 – 4311ATPBy similarity
    Binding sitei484 – 4841ATPBy similarity
    Binding sitei486 – 4861Substrate
    Binding sitei558 – 5581ATPBy similarity
    Binding sitei638 – 6381ATPBy similarity
    Binding sitei641 – 6411Substrate

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi471 – 4733ATPBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. inositol-1,4,5-trisphosphate 3-kinase activity Source: UniProtKB-EC

    GO - Biological processi

    1. inositol phosphate metabolic process Source: Reactome
    2. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Calmodulin-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01533-MONOMER.
    ReactomeiREACT_150312. Synthesis of IP3 and IP4 in the cytosol.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inositol-trisphosphate 3-kinase C (EC:2.7.1.127)
    Alternative name(s):
    Inositol 1,4,5-trisphosphate 3-kinase C
    Short name:
    IP3 3-kinase C
    Short name:
    IP3K C
    Short name:
    InsP 3-kinase C
    Gene namesi
    Name:ITPKC
    Synonyms:IP3KC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:14897. ITPKC.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasm 1 Publication
    Note: Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity.

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Kawasaki disease (KWD) [MIM:611775]: An acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi611775. phenotype.
    PharmGKBiPA29977.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 683683Inositol-trisphosphate 3-kinase CPRO_0000234070Add
    BLAST

    Proteomic databases

    MaxQBiQ96DU7.
    PaxDbiQ96DU7.
    PRIDEiQ96DU7.

    PTM databases

    PhosphoSiteiQ96DU7.

    Expressioni

    Tissue specificityi

    Highly expressed in pancreas, skeletal muscle, liver, placenta and weakly in kidney and brain.1 Publication

    Gene expression databases

    ArrayExpressiQ96DU7.
    BgeeiQ96DU7.
    CleanExiHS_ITPKC.
    GenevestigatoriQ96DU7.

    Organism-specific databases

    HPAiHPA050760.
    HPA053003.

    Interactioni

    Protein-protein interaction databases

    BioGridi123209. 1 interaction.
    IntActiQ96DU7. 1 interaction.
    STRINGi9606.ENSP00000263370.

    Structurei

    Secondary structure

    1
    683
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi427 – 4326
    Helixi435 – 44410
    Helixi450 – 4523
    Beta strandi456 – 4627
    Beta strandi465 – 4717
    Turni473 – 4764
    Beta strandi481 – 4899
    Helixi494 – 4963
    Turni500 – 5023
    Helixi508 – 5158
    Helixi524 – 5296
    Helixi534 – 54411
    Helixi547 – 5504
    Beta strandi551 – 5588
    Helixi574 – 58512
    Helixi589 – 60820
    Helixi610 – 6134
    Beta strandi615 – 6173
    Beta strandi621 – 6266
    Beta strandi632 – 6376
    Beta strandi642 – 6443
    Beta strandi653 – 6553
    Turni659 – 6613
    Helixi666 – 68116

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2A98X-ray2.60A425-683[»]
    ProteinModelPortaliQ96DU7.
    SMRiQ96DU7. Positions 395-683.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ96DU7.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni324 – 3329Nuclear export signalBy similarity
    Regioni507 – 5137Substrate binding
    Regioni509 – 5179Calmodulin-bindingBy similarity
    Regioni534 – 5418Substrate binding

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG275147.
    HOGENOMiHOG000113089.
    HOVERGENiHBG081804.
    InParanoidiQ96DU7.
    KOiK00911.
    OMAiSWKELYT.
    OrthoDBiEOG7DVDB7.
    PhylomeDBiQ96DU7.
    TreeFamiTF318394.

    Family and domain databases

    InterProiIPR005522. IPK.
    [Graphical view]
    PANTHERiPTHR12400. PTHR12400. 1 hit.
    PfamiPF03770. IPK. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96DU7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRRCPCRGSL NEAEAGALPA AARMGLEAPR GGRRRQPGQQ RPGPGAGAPA    50
    GRPEGGGPWA RTEGSSLHSE PERAGLGPAP GTESPQAEFW TDGQTEPAAA 100
    GLGVETERPK QKTEPDRSSL RTHLEWSWSE LETTCLWTET GTDGLWTDPH 150
    RSDLQFQPEE ASPWTQPGVH GPWTELETHG SQTQPERVKS WADNLWTHQN 200
    SSSLQTHPEG ACPSKEPSAD GSWKELYTDG SRTQQDIEGP WTEPYTDGSQ 250
    KKQDTEAARK QPGTGGFQIQ QDTDGSWTQP STDGSQTAPG TDCLLGEPED 300
    GPLEEPEPGE LLTHLYSHLK CSPLCPVPRL IITPETPEPE AQPVGPPSRV 350
    EGGSGGFSSA SSFDESEDDV VAGGGGASDP EDRSGSKPWK KLKTVLKYSP 400
    FVVSFRKHYP WVQLSGHAGN FQAGEDGRIL KRFCQCEQRS LEQLMKDPLR 450
    PFVPAYYGMV LQDGQTFNQM EDLLADFEGP SIMDCKMGSR TYLEEELVKA 500
    RERPRPRKDM YEKMVAVDPG APTPEEHAQG AVTKPRYMQW RETMSSTSTL 550
    GFRIEGIKKA DGTCNTNFKK TQALEQVTKV LEDFVDGDHV ILQKYVACLE 600
    ELREALEISP FFKTHEVVGS SLLFVHDHTG LAKVWMIDFG KTVALPDHQT 650
    LSHRLPWAEG NREDGYLWGL DNMICLLQGL AQS 683
    Length:683
    Mass (Da):75,207
    Last modified:December 1, 2001 - v1
    Checksum:i58093A2A8E046458
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti80 – 823PGT → NSA in BAA22524. 1 PublicationCurated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ290975 mRNA. Translation: CAC40815.1.
    BC060788 mRNA. Translation: AAH60788.1.
    D38169 mRNA. Translation: BAA22524.1.
    Y11999 mRNA. Translation: CAA72728.1.
    CCDSiCCDS12563.1.
    RefSeqiNP_079470.1. NM_025194.2.
    XP_006723467.1. XM_006723404.1.
    UniGeneiHs.515415.

    Genome annotation databases

    EnsembliENST00000263370; ENSP00000263370; ENSG00000086544.
    GeneIDi80271.
    KEGGihsa:80271.
    UCSCiuc002oot.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ290975 mRNA. Translation: CAC40815.1 .
    BC060788 mRNA. Translation: AAH60788.1 .
    D38169 mRNA. Translation: BAA22524.1 .
    Y11999 mRNA. Translation: CAA72728.1 .
    CCDSi CCDS12563.1.
    RefSeqi NP_079470.1. NM_025194.2.
    XP_006723467.1. XM_006723404.1.
    UniGenei Hs.515415.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2A98 X-ray 2.60 A 425-683 [» ]
    ProteinModelPortali Q96DU7.
    SMRi Q96DU7. Positions 395-683.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123209. 1 interaction.
    IntActi Q96DU7. 1 interaction.
    STRINGi 9606.ENSP00000263370.

    PTM databases

    PhosphoSitei Q96DU7.

    Proteomic databases

    MaxQBi Q96DU7.
    PaxDbi Q96DU7.
    PRIDEi Q96DU7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263370 ; ENSP00000263370 ; ENSG00000086544 .
    GeneIDi 80271.
    KEGGi hsa:80271.
    UCSCi uc002oot.3. human.

    Organism-specific databases

    CTDi 80271.
    GeneCardsi GC19P041223.
    HGNCi HGNC:14897. ITPKC.
    HPAi HPA050760.
    HPA053003.
    MIMi 606476. gene.
    611775. phenotype.
    neXtProti NX_Q96DU7.
    PharmGKBi PA29977.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG275147.
    HOGENOMi HOG000113089.
    HOVERGENi HBG081804.
    InParanoidi Q96DU7.
    KOi K00911.
    OMAi SWKELYT.
    OrthoDBi EOG7DVDB7.
    PhylomeDBi Q96DU7.
    TreeFami TF318394.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS01533-MONOMER.
    Reactomei REACT_150312. Synthesis of IP3 and IP4 in the cytosol.

    Miscellaneous databases

    EvolutionaryTracei Q96DU7.
    GenomeRNAii 80271.
    NextBioi 70737.
    PROi Q96DU7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96DU7.
    Bgeei Q96DU7.
    CleanExi HS_ITPKC.
    Genevestigatori Q96DU7.

    Family and domain databases

    InterProi IPR005522. IPK.
    [Graphical view ]
    PANTHERi PTHR12400. PTHR12400. 1 hit.
    Pfami PF03770. IPK. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and expression of a cDNA encoding human inositol 1,4,5-trisphosphate 3-kinase C."
      Dewaste V., Pouillon V., Moreau C., Shears S., Takazawa K., Erneux C.
      Biochem. J. 352:343-351(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ENZYME REGULATION, TISSUE SPECIFICITY.
      Tissue: Thyroid.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    3. Takazawa K., Go M., Togashi S., Endo T., Erneux C., Onaya T.
      Submitted (SEP-1994) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 80-683.
      Tissue: Thyroid.
    4. Erneux C., Communi D.
      Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 531-667.
      Tissue: Placenta.
    5. "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."
      Dewaste V., Moreau C., De Smedt F., Bex F., De Smedt H., Wuytack F., Missiaen L., Erneux C.
      Biochem. J. 374:41-49(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    6. "The crystal structure of the catalytic domain of human inositol 1,4,5-trisphosphate 3-kinase C."
      Structural genomics consortium (SGC)
      Submitted (OCT-2005) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 425-683 IN COMPLEX WITH INOSITOL-1,4,5-TRIPHOSPHATE.
    7. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO KAWASAKI DISEASE.

    Entry informationi

    Entry nameiIP3KC_HUMAN
    AccessioniPrimary (citable) accession number: Q96DU7
    Secondary accession number(s): Q9UE25, Q9Y475
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2006
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 97 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3