ITPK1 - inositol-tetrakisphosphate 1-kinase Gene

Homo sapiens

Also known as ITRPK1

Gene ID: 3705 | Gene type: protein coding

About ITPK1

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:92,936,914-93,115,925 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele and 223 orthologues. Ubiquitous expression in brain (RPKM 29.9), fat (RPKM 26.2) and 25 other tissues.

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]

ITPK1 Products(4)

mRNA	Protein	Name
NM_001142593.3	NP_001136065.1	inositol-tetrakisphosphate 1-kinase isoform a
NM_001142594.3	NP_001136066.1	inositol-tetrakisphosphate 1-kinase isoform b
NM_001363707.2	NP_001350636.1	inositol-tetrakisphosphate 1-kinase isoform c
NM_014216.6	NP_055031.2	inositol-tetrakisphosphate 1-kinase isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables inositol-1,3,4,5-tetrakisphosphate 6-kinase activity	IMP IMP: Inferred from mutant phenotype	29883610	GOA
enables inositol-1,3,4-trisphosphate 5-kinase activity	EXP EXP: Inferred from Experiment	11042108	GOA
enables inositol-1,3,4-trisphosphate 6-kinase activity	EXP EXP: Inferred from Experiment	11042108	GOA
enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity	EXP EXP: Inferred from Experiment	8662638	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in necroptotic process	IMP IMP: Inferred from mutant phenotype	29883610	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ITPK1 Protein Structure

Ins134_P3_kin

0
100
200
300
414 a.a.

Protein Preferred Names

Protein Names

inositol-tetrakisphosphate 1-kinase

inositol 1,3,4-trisphosphate 5/6-kinase

Related Diseases

Diseases

Alias

Cerebral Falx Meningioma

Falcine Meningioma

Falx Cerebri Meningioma

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Anterior Cranial Fossa Meningioma

Meningioma Of The Anterior Fossa

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06987	ITPK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ITPK1	VGNC	VGNC:30343
Rattus norvegicus	ITPK1	RGD	RGD:1595691
Macaca mulatta	ITPK1	VGNC	VGNC:73802
Mus musculus	ITPK1	MGD	MGI:2446159
Felis catus	ITPK1	VGNC	VGNC:80946
Canis familiaris	ITPK1	VGNC	VGNC:42153

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