2. Gene
  3. ITPK1 - inositol-tetrakisphosphate 1-kinase Gene

ITPK1 - inositol-tetrakisphosphate 1-kinase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

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

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 / 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