Itpk1 inositol 1,3,4-triphosphate 5/6 kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Itpk1provided by MGI
Official Full Name: inositol 1,3,4-triphosphate 5/6 kinaseprovided by MGI
Primary source: MGI:MGI:2446159
See related: Ensembl:ENSMUSG00000057963 AllianceGenome:MGI:2446159
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable inositol phosphate kinase activity. Acts upstream of or within neural tube development. Located in apical plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and peripheral nervous system. Orthologous to human ITPK1 (inositol-tetrakisphosphate 1-kinase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in duodenum adult (RPKM 120.5), large intestine adult (RPKM 112.0) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 51.69 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (102534842..102671128, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (102568583..102704869, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that relative deficiency of one or more inositol phosphates accounts for neural tube defects in inositol 1,3,4-trisphosphate 5/6-kinase knockout mice.
Title: Expression of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) and its role in neural tube defects.
Apical localization of Itpk1 enhances its ability to be a modifier gene product in a murine tracheal cell model of cystic fibrosis.
Title: Apical localization of ITPK1 enhances its ability to be a modifier gene product in a murine tracheal cell model of cystic fibrosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (3) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236933

AU046664 (e-PCR)
- UniSTS:111240

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables inositol-1,3,4,5-tetrakisphosphate 6-kinase activity	ISO Inferred from Sequence Orthology more info
enables inositol-1,3,4,5-tetrakisphosphate 6-kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables inositol-1,3,4-trisphosphate 5-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-1,3,4-trisphosphate 5-kinase activity	IEA Inferred from Electronic Annotation more info
enables inositol-1,3,4-trisphosphate 5-kinase activity	ISO Inferred from Sequence Orthology more info
enables inositol-1,3,4-trisphosphate 6-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-1,3,4-trisphosphate 6-kinase activity	IEA Inferred from Electronic Annotation more info
enables inositol-1,3,4-trisphosphate 6-kinase activity	ISO Inferred from Sequence Orthology more info
enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity	IEA Inferred from Electronic Annotation more info
enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity	ISO Inferred from Sequence Orthology 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

Process	Evidence Code	Pubs
involved_in inositol trisphosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in necroptotic process	ISO Inferred from Sequence Orthology more info
involved_in necroptotic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: inositol-tetrakisphosphate 1-kinase

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

NP_766172.1

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.