ITPK1 - inositol-tetrakisphosphate 1-kinase Gene

Also Known as ITRPK1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3705

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 References 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 References 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

Ins134_P3_kin: Inositol 1, 3, 4-trisphosphate 5/6-kinase (1 - 317)

  • 0
  • 100
  • 200
  • 300
  • 414 a.a.
Protein Preferred Names Protein Names

inositol-tetrakisphosphate 1-kinase

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

ITPK1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ITPK1 Q13572 CRYZL1 Homo sapiens O95825
Anti Tag CoIP
33961781
Intra
ITPK1 Q13572 CRYZL1 Homo sapiens O95825
Anti Tag CoIP
28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

ITPK1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83380 ITPK1 Antibody (YA3125) WB, IHC-P, IP, FC Human
HY-P83380A ITPK1 Antibody (YA3125)(PBS only) WB, IP Human

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

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 Set / 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
Others ITPK1 NCBI