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Q96DU7 (IP3KC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ITPKC
Synonyms:IP3KC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length683 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Catalytic activity

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

Enzyme regulation

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. Ref.1

Subcellular location

Nucleus. Cytoplasm. Note: Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity. Ref.5

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the inositol phosphokinase (IPK) family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 683683Inositol-trisphosphate 3-kinase C
PRO_0000234070

Regions

Nucleotide binding471 – 4733ATP By similarity
Region324 – 3329Nuclear export signal By similarity
Region507 – 5137Substrate binding
Region509 – 5179Calmodulin-binding By similarity
Region534 – 5418Substrate binding

Sites

Binding site4311ATP By similarity
Binding site4841ATP By similarity
Binding site4861Substrate
Binding site5581ATP By similarity
Binding site6381ATP By similarity
Binding site6411Substrate

Experimental info

Sequence conflict80 – 823PGT → NSA in BAA22524. Ref.3

Secondary structure

................................................ 683
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q96DU7 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 58093A2A8E046458

FASTA68375,207
        10         20         30         40         50         60 
MRRCPCRGSL NEAEAGALPA AARMGLEAPR GGRRRQPGQQ RPGPGAGAPA GRPEGGGPWA 

        70         80         90        100        110        120 
RTEGSSLHSE PERAGLGPAP GTESPQAEFW TDGQTEPAAA GLGVETERPK QKTEPDRSSL 

       130        140        150        160        170        180 
RTHLEWSWSE LETTCLWTET GTDGLWTDPH RSDLQFQPEE ASPWTQPGVH GPWTELETHG 

       190        200        210        220        230        240 
SQTQPERVKS WADNLWTHQN SSSLQTHPEG ACPSKEPSAD GSWKELYTDG SRTQQDIEGP 

       250        260        270        280        290        300 
WTEPYTDGSQ KKQDTEAARK QPGTGGFQIQ QDTDGSWTQP STDGSQTAPG TDCLLGEPED 

       310        320        330        340        350        360 
GPLEEPEPGE LLTHLYSHLK CSPLCPVPRL IITPETPEPE AQPVGPPSRV EGGSGGFSSA 

       370        380        390        400        410        420 
SSFDESEDDV VAGGGGASDP EDRSGSKPWK KLKTVLKYSP FVVSFRKHYP WVQLSGHAGN 

       430        440        450        460        470        480 
FQAGEDGRIL KRFCQCEQRS LEQLMKDPLR PFVPAYYGMV LQDGQTFNQM EDLLADFEGP 

       490        500        510        520        530        540 
SIMDCKMGSR TYLEEELVKA RERPRPRKDM YEKMVAVDPG APTPEEHAQG AVTKPRYMQW 

       550        560        570        580        590        600 
RETMSSTSTL GFRIEGIKKA DGTCNTNFKK TQALEQVTKV LEDFVDGDHV ILQKYVACLE 

       610        620        630        640        650        660 
ELREALEISP FFKTHEVVGS SLLFVHDHTG LAKVWMIDFG KTVALPDHQT LSHRLPWAEG 

       670        680 
NREDGYLWGL DNMICLLQGL AQS 

« Hide

References

« Hide 'large scale' references
[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]"Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2."
Kornak U., Reynders E., Dimopoulou A., van Reeuwijk J., Fischer B., Rajab A., Budde B., Nuernberg P., Foulquier F., Dobyns W.B., Quelhas D., Vilarinho L., Leao-Teles E., Greally M., Seemanova E., Simandlova M., Salih M., Nanda A. expand/collapse author list , Basel-Vanagaite L., Kayserili H., Yuksel-Apak M., Larregue M., Vigneron J., Giurgea S., Lefeber D., Urban Z., Gruenewald S., Annaert W., Brunner H.G., van Bokhoven H., Wevers R., Morava E., Matthijs G., Van Maldergem L., Mundlos S.
Nat. Genet. 40:32-34(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO KAWASAKI DISEASE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ290975 mRNA. Translation: CAC40815.1.
BC060788 mRNA. Translation: AAH60788.1.
D38169 mRNA. Translation: BAA22524.1.
Y11999 mRNA. Translation: CAA72728.1.
CCDSCCDS12563.1.
RefSeqNP_079470.1. NM_025194.2.
XP_006723467.1. XM_006723404.1.
UniGeneHs.515415.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2A98X-ray2.60A425-683[»]
ProteinModelPortalQ96DU7.
SMRQ96DU7. Positions 395-683.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123209. 1 interaction.
IntActQ96DU7. 1 interaction.
STRING9606.ENSP00000263370.

PTM databases

PhosphoSiteQ96DU7.

Proteomic databases

MaxQBQ96DU7.
PaxDbQ96DU7.
PRIDEQ96DU7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263370; ENSP00000263370; ENSG00000086544.
GeneID80271.
KEGGhsa:80271.
UCSCuc002oot.3. human.

Organism-specific databases

CTD80271.
GeneCardsGC19P041223.
HGNCHGNC:14897. ITPKC.
HPAHPA050760.
HPA053003.
MIM606476. gene.
611775. phenotype.
neXtProtNX_Q96DU7.
PharmGKBPA29977.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG275147.
HOGENOMHOG000113089.
HOVERGENHBG081804.
InParanoidQ96DU7.
KOK00911.
OMASWKELYT.
OrthoDBEOG7DVDB7.
PhylomeDBQ96DU7.
TreeFamTF318394.

Enzyme and pathway databases

BioCycMetaCyc:HS01533-MONOMER.
ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ96DU7.
BgeeQ96DU7.
CleanExHS_ITPKC.
GenevestigatorQ96DU7.

Family and domain databases

InterProIPR005522. IPK.
[Graphical view]
PANTHERPTHR12400. PTHR12400. 1 hit.
PfamPF03770. IPK. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ96DU7.
GenomeRNAi80271.
NextBio70737.
PROQ96DU7.
SOURCESearch...

Entry information

Entry nameIP3KC_HUMAN
AccessionPrimary (citable) accession number: Q96DU7
Secondary accession number(s): Q9UE25, Q9Y475
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM