ITPK1 inositol-tetrakisphosphate 1-kinase [Homo sapiens] - Gene

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Summary

Official Symbol: ITPK1provided by HGNC
Official Full Name: inositol-tetrakisphosphate 1-kinaseprovided by HGNC
Primary source: HGNC:6177
See related: Ensembl:ENSG00000100605; HPRD:03501; MIM:601838; Vega:OTTHUMG00000171226
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ITRPK1

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Genomic context

Location :: 14q31

Sequence :: Chromosome: 14; NC_000014.8 (93403259..93582263, complement)

See ITPK1 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

HEK293 cells stably expressing acetylated ITPK1 had reduced levels of the higher phosphorylated forms of inositol, compared with the levels seen in cells expressing unacetylated ITPK1
Title: Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
analysis of inositol phosphate signaling pathway integration via human ITPK1
Title: Integration of inositol phosphate signaling pathways via human ITPK1.
5/6-kinase modifies TNFalpha-induced apoptosis by interfering with the activation of TNF-R1-associated death domain
Title: Inositol 1,3,4-trisphosphate 5/6-kinase inhibits tumor necrosis factor-induced apoptosis.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q13572	Q99627	COPS8	HPRD	PubMed
Q13572	Q13098	GPS1	HPRD	PubMed
Q13572	Q12933	TRAF2	HPRD	PubMed
BioGRID:109910	BioGRID:113038	TRAF2	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
catalytic activity	TAS Traceable Author Statement more info	PubMed
hydrolase activity	IEA Inferred from Electronic Annotation more info
inositol tetrakisphosphate 1-kinase activity	IEA Inferred from Electronic Annotation more info
inositol-1,3,4-trisphosphate 5-kinase activity	IEA Inferred from Electronic Annotation more info
inositol-1,3,4-trisphosphate 6-kinase activity	IEA Inferred from Electronic Annotation more info
isomerase activity	IEA Inferred from Electronic Annotation more info
kinase activity	IEA Inferred from Electronic Annotation more info
ligase activity	IEA Inferred from Electronic Annotation more info
magnesium ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
blood coagulation	TAS Traceable Author Statement more info
inositol trisphosphate metabolic process	IEA Inferred from Electronic Annotation more info
metabolic process	TAS Traceable Author Statement more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
intracellular	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: inositol-tetrakisphosphate 1-kinase

Names: inositol-tetrakisphosphate 1-kinase; ins(1,3,4)P(3) 5/6-kinase; inositol-triphosphate 5/6-kinase; inositol 1,3,4-triphosphate 5/6 kinase; inositol 1,3,4-trisphosphate 5/6 kinase; inositol 1,3,4-trisphosphate 5/6-kinase

NP_001136065.1

EC 2.7.1.134

EC 2.7.1.159

NP_001136066.1

EC 2.7.1.134

EC 2.7.1.159

NP_055031.2

EC 2.7.1.134

EC 2.7.1.159

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142593.1 → NP_001136065.1 inositol-tetrakisphosphate 1-kinase isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice pattern in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AA770154, AF279372, BC018192, BX420122, U51336

Consensus CDS

CCDS9907.1

UniProtKB/Swiss-Prot

Q13572

Related

ENSP00000451091, OTTHUMP00000245497, ENST00000556603, OTTHUMT00000412419

Conserved Domains (1) summary

pfam05770
Location:1 – 318
Blast Score: 1279

Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-kinase
NM_001142594.1 → NP_001136066.1 inositol-tetrakisphosphate 1-kinase isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AL117192, BC003622, BX420122

Consensus CDS

CCDS45157.1

UniProtKB/Swiss-Prot

Q13572

Related

ENSP00000346272, OTTHUMP00000245496, ENST00000354313, OTTHUMT00000412418

Conserved Domains (1) summary

pfam05770
Location:1 – 301
Blast Score: 1199

Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-kinase
NM_014216.4 → NP_055031.2 inositol-tetrakisphosphate 1-kinase isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AA770154, AF279372, BC018192, BX420122

Consensus CDS

CCDS9907.1

UniProtKB/Swiss-Prot

Q13572

Related

ENSP00000267615, OTTHUMP00000245499, ENST00000267615, OTTHUMT00000412421

Conserved Domains (1) summary

pfam05770
Location:1 – 318
Blast Score: 1279

Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-kinase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

93403259..93582263, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

73584961..73762800, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL110118.7 (106912..132849)	None
genomic	AL117192.5 (151614..152880)	None
genomic	CH471061.1	EAW81507.1
		EAW81508.1
		EAW81509.1
		EAW81510.1
		EAW81511.1
		EAW81512.1
		EAW81513.1
mRNA	AA770154.1	None
mRNA	AF279372.1	AAG44835.1
mRNA	AK293515.1	BAG56998.1
mRNA	AY129028.1	AAM98771.1
mRNA	BC003622.2	AAH03622.1
mRNA	BC007428.2	AAH07428.1
mRNA	BC018192.1	AAH18192.1
mRNA	BC037305.2	AAH37305.2
mRNA	BQ434653.1	None
mRNA	BX420122.2	None
mRNA	CB997740.1	None
mRNA	U51336.1	AAC50483.1
other-genetic	DQ891434.2	ABM82360.1
other-genetic	DQ894609.2	ABM85535.1