Reviewed, UniProtKB/Swiss-Prot Q96DU7 (IP3KC_HUMAN)

Names and origin

Protein names

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=InsP 3-kinase C
      Short name=IP3K-C

Gene names

Name:	ITPKC
Synonyms:	IP3KC

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	683 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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	Genetic variations in ITPKC influence susceptibility to Kawasaki disease [MIM:611775]; also known as mucocutaneous lymph node syndrome or infantile polyarteritis. Kawasaki disease is 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. Coronary artery aneurysms develop in 15 to 25% of those left untreated, making Kawasaki disease the leading cause of acquired heart disease among children in developed countries. Ref.7
Sequence similarities	Belongs to the inositol phosphokinase (IPK) family.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Ligand	ATP-binding Calmodulin-binding Nucleotide-binding
Molecular function	Kinase Transferase
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW calmodulin binding Inferred from electronic annotation. Source: UniProtKB-KW inositol trisphosphate 3-kinase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 683

683

Inositol-trisphosphate 3-kinase C

PRO_0000234070

Regions

Nucleotide binding

471 – 473

3

ATP By similarity

Region

324 – 332

9

Nuclear export signal By similarity

Region

507 – 513

7

Substrate binding

Region

509 – 517

9

Calmodulin-binding By similarity

Region

534 – 541

8

Substrate binding

Sites

Binding site

431

1

ATP By similarity

Binding site

484

1

ATP By similarity

Binding site

486

1

Substrate

Binding site

558

1

ATP By similarity

Binding site

638

1

ATP By similarity

Binding site

641

1

Substrate

Experimental info

Sequence conflict

80 – 82

3

PGT → NSA in BAA22524. Ref.3

Secondary structure

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683

Helix Strand Turn

Details...

Beta strand

427 – 432

6

Helix

435 – 444

10

Helix

450 – 452

3

Beta strand

456 – 462

7

Beta strand

465 – 471

7

Turn

473 – 476

4

Beta strand

481 – 489

9

Helix

494 – 496

3

Turn

500 – 502

3

Helix

508 – 515

8

Helix

524 – 529

6

Helix

534 – 544

11

Helix

547 – 550

4

Beta strand

551 – 558

8

Helix

574 – 585

12

Helix

589 – 608

20

Helix

610 – 613

4

Beta strand

615 – 617

3

Beta strand

621 – 626

6

Beta strand

632 – 637

6

Beta strand

642 – 644

3

Beta strand

653 – 655

3

Turn

659 – 661

3

Helix

666 – 681

16

Sequences

	Sequence		Length	Mass (Da)
	Q96DU7-1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 58093A2A8E046458	FASTA	683	75,207
	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

References

	« Hide 'large scale' referencesShow '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: 11085927] [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: 15489334] [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: 12747803] [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. , 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: 18157129] [Abstract] Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO KAWASAKI DISEASE.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

AJ290975 mRNA. Translation: CAC40815.1.
BC060788 mRNA. Translation: AAH60788.1.
D38169 mRNA. Translation: BAA22524.1.
Y11999 mRNA. Translation: CAA72728.1.

IPI

IPI00061203.

RefSeq

NP_079470.1.

UniGene

Hs.515415

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2A98	X-ray	2.60	A	425-683	[»]

ModBase

Search...

Protein-protein interaction databases

STRING

Q96DU7.

Proteomic databases

PRIDE

Q96DU7.

Genome annotation databases

Ensembl

ENST00000263370; ENSP00000263370; ENSG00000086544; Homo sapiens. [Genome view]

GeneID

80271.

KEGG

hsa:80271.

NMPDR

fig|9606.3.peg.16481.

UCSC

uc002oot.1. human.

Organism-specific databases

CTD

80271.

GeneCards

GC19P045914.

H-InvDB

HIX0015142.

HGNC

HGNC:14897. ITPKC.

MIM

606476. gene.
611775. phenotype.

PharmGKB

PA29977.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

Q96DU7.

HOVERGEN

Q96DU7.

OMA

MRRCPCR.

Enzyme and pathway databases

BRENDA

2.7.1.127. 247.

Gene expression databases

ArrayExpress

Q96DU7.

Bgee

Q96DU7.

CleanEx

HS_ITPKC.

Genevestigator

Q96DU7.

GermOnline

ENSG00000086544. Homo sapiens.

Family and domain databases

InterPro

IPR005522. IPK.
[Graphical view]

PANTHER

PTHR12400. IPK. 1 hit.

Pfam

PF03770. IPK. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

70737.

SOURCE

Search...

Entry information

Entry name

IP3KC_HUMAN

Accession

Primary (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:	November 3, 2009
This is version 57 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.