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FLASH GENE

Symbol

ITPK1

contributors: npt/mct/pgu - updated : 28-09-2013

HGNC name	inositol 1,3,4-triphosphate 5/6 kinase
HGNC id	6177

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	179.01 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014216 11 - 3385 NP_055031 45.6 414 - 2007 1761652 ITPK1 NM_001142593 11 - 3264 NP_001136065 - 414 - 2007 1761652 NM_001142594 11 - 2821 NP_001136066 - 314 - 2007 1761652

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       highly Reproductive female system uterus cervix   highly   female system ovary     highly Respiratory lung       highly Skin/Tegument skin       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a poly(A) tail

secondary structure

secondary structural features able to impart substrate selectivity and enhance nucleotide binding, thereby promoting intersubstrate phosphate transfer

HOMOLOGY

interspecies

homolog to C.elegans Y50E8.A

intraspecies

homolog to ITGB1

Homologene

FAMILY

ITPK1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	reversible, poly-specific inositol phosphate kinase that has been implicated as a modifier gene in cystic fibrosis
	reversible inositol phosphate kinase/phosphatase that links receptor-dependent phospholipase C to Ca2+-activated chloride channels
	inhibits tumor necrosis factor-induced apoptosis
	catalyzes the rate-limiting step in the formation of higher phosphorylated forms of inositol in mammalian cells
	plays a pivotal role in inositol metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

CREBBP acetylates ITPK1, and ITPK1 stability is decreased by acetylation

cell & other

REGULATION

Other

modified by acetylation of internal lysine residues (lysine acetylation alters both the stability as well as the activity of ITPK1 in cells)

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice producing reduced levels of Itpk1 develop neural tube defects with incomplete penetrance