ITPK1 inositol-tetrakisphosphate 1-kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITPK1provided by HGNC
Official Full Name: inositol-tetrakisphosphate 1-kinaseprovided by HGNC
Primary source: HGNC:HGNC:6177
See related: Ensembl:ENSG00000100605 MIM:601838; AllianceGenome:HGNC:6177
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ITRPK1
Summary: This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in brain (RPKM 29.9), fat (RPKM 26.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (92936914..93115925, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (87168906..87347917, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (93403259..93582270, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.
Title: Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.
ITPK1 role in the lipid-independent synthesis of inositol phosphates.
Title: ITPK1 mediates the lipid-independent synthesis of inositol phosphates controlled by metabolism.
The results suggested that the maternal rs3783903 of ITPK1 might be associated with spina bifida, and the allele G of rs3783903 might affect the binding of AP-1 and the decrease of maternal plasma inositol hexakisphosphate concentration.
Title: The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population.
Activation of PLC by an endogenous cytokine (GBP) in Drosophila S3 cells and its application as a model for studying inositol phosphate signalling through ITPK1.
Title: Activation of PLC by an endogenous cytokine (GBP) in Drosophila S3 cells and its application as a model for studying inositol phosphate signalling through ITPK1.
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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study link novel loci to endometriosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11187 (e-PCR)
- UniSTS:72978

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

WI-22730 (e-PCR)
- UniSTS:2435

IB3705 (e-PCR)
- UniSTS:3211

G17828 (e-PCR)
- UniSTS:5563

D14S688E (e-PCR)
- UniSTS:82413

SHGC-31416 (e-PCR)
- UniSTS:18673

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	TAS Traceable Author Statement more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables inositol-1,3,4,5-tetrakisphosphate 6-kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables inositol-1,3,4-trisphosphate 5-kinase activity	EXP Inferred from Experiment more info	PubMed
enables inositol-1,3,4-trisphosphate 5-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-1,3,4-trisphosphate 6-kinase activity	EXP Inferred from Experiment more info	PubMed
enables inositol-1,3,4-trisphosphate 6-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity	EXP Inferred from Experiment more info	PubMed
enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-3,4,6-trisphosphate 1-kinase activity	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	TAS Traceable Author Statement more info
involved_in inositol trisphosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in necroptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube development	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: inositol-tetrakisphosphate 1-kinase

Names: inositol 1,3,4-trisphosphate 5/6-kinase; ins(1,3,4)P(3) 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_001350636.1

EC 2.7.1.134

EC 2.7.1.159

NP_055031.2

EC 2.7.1.134

EC 2.7.1.159

XP_016876751.2

EC 2.7.1.134

EC 2.7.1.159

XP_047287307.1

EC 2.7.1.134

EC 2.7.1.159

XP_054184951.1

EC 2.7.1.134

EC 2.7.1.159

XP_054184952.1

EC 2.7.1.134

EC 2.7.1.159

XP_054231975.1

EC 2.7.1.134

EC 2.7.1.159

XP_054231976.1

EC 2.7.1.134

EC 2.7.1.159

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_051071.1 RefSeqGene

Range

4995..184006

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142593.3 → NP_001136065.1 inositol-tetrakisphosphate 1-kinase isoform a

Status: REVIEWED

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, AL110118, AL117192, BC018192, BX407816, BX420122, U51336

Consensus CDS

CCDS9907.1

UniProtKB/Swiss-Prot

Q13572, Q9BTL6, Q9H2E7

UniProtKB/TrEMBL

Q8N3Y0

Related

ENSP00000451091.1, ENST00000556603.6

Conserved Domains (1) summary

pfam05770
Location:1 → 318

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

Status: REVIEWED

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)

AL110118, AL117192, BC003622, BX407816, BX420122

Consensus CDS

CCDS45157.1

UniProtKB/TrEMBL

B4DE87

Related

ENSP00000346272.3, ENST00000354313.7

Conserved Domains (1) summary

cl17255
Location:1 → 301

CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
NM_001363707.2 → NP_001350636.1 inositol-tetrakisphosphate 1-kinase isoform c

Status: REVIEWED

Source sequence(s)

AL117192

Consensus CDS

CCDS86425.1

UniProtKB/TrEMBL

G3V4M9

Conserved Domains (1) summary

cl17255
Location:1 → 199

CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
NM_014216.6 → NP_055031.2 inositol-tetrakisphosphate 1-kinase isoform a

Status: REVIEWED

Description

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

Source sequence(s)

AA770154, AF279372, AL110118, AL117192, BC018192, BX407816, BX420122

Consensus CDS

CCDS9907.1

UniProtKB/Swiss-Prot

Q13572, Q9BTL6, Q9H2E7

UniProtKB/TrEMBL

Q8N3Y0

Related

ENSP00000267615.5, ENST00000267615.11

Conserved Domains (1) summary

pfam05770
Location:1 → 318

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

92936914..93115925 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431351.1 → XP_047287307.1 inositol-tetrakisphosphate 1-kinase isoform X1

UniProtKB/TrEMBL

G3V4M9

Related

ENSP00000451893.1, ENST00000555495.5
XM_017021262.2 → XP_016876751.2 inositol-tetrakisphosphate 1-kinase isoform X1

UniProtKB/TrEMBL

G3V4M9

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

51476..230487 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328977.1 → XP_054184952.1 inositol-tetrakisphosphate 1-kinase isoform X1

UniProtKB/TrEMBL

G3V4M9
XM_054328976.1 → XP_054184951.1 inositol-tetrakisphosphate 1-kinase isoform X1

UniProtKB/TrEMBL

G3V4M9

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

87168906..87347917 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376001.1 → XP_054231976.1 inositol-tetrakisphosphate 1-kinase isoform X1

UniProtKB/TrEMBL

G3V4M9
XM_054376000.1 → XP_054231975.1 inositol-tetrakisphosphate 1-kinase isoform X1

UniProtKB/TrEMBL

G3V4M9