Pip5k1c
Gene Detail

Symbol Name ID

Pip5k1c phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma MGI:1298224

Synonyms

mKIAA0589, PIP5KIgamma

Feature Type

protein coding gene

Genetic Map

Chromosome 10

39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr10:81292963-81319973 bp, + strand From VEGA annotation of GRCm38   27011 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:69032  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pip5k1c

Human homologs

Human Homolog		PIP5K1C, phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
NCBI Gene ID		23396
neXtProt AC		NX_O60331
Human Synonyms		LCCS3, PIP5Kgamma, PIP5K-GAMMA, PIPKIg_v4
Human Chr (Location)		19p13.3; chr19:3630179-3700477 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PIP5K1C

Alleles and phenotypes

All alleles(8) : Targeted(3) Gene trapped(5)
 

Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality and synaptic transmission and plasticity defects.

 
Phenotype Images(5)

Gene Ontology (GO) classifications

All GO classifications: (20 annotations)

Process	axonogenesis, cell adhesion, ...
Component	cell junction, cell projection, ...
Function	1-phosphatidylinositol-4-phosphate 5-kinase activity, ATP binding, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (292)    Tissues (151)    Images (42)
Theiler Stages: 22, 23, 26, 28

Assay Type	Results
RNA in situ	291
Northern blot	1

cDNA source data(13)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(15) cDNA(14) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000033475 (Evidence)
Ensembl Gene Model	ENSMUSG00000034902 (Evidence)
Entrez Gene	18717 (Evidence)
DFCI	TC1572536, TC1588828, TC1724005
DoTS	DT.101238306, DT.101398631, DT.101398633, DT.50316779, DT.94306331
NIA Mouse Gene Index	U011778
EC	2.7.1.68
PDB	2H7D, 2H7E, 1Y19
Consensus CDS Project	CCDS35994.1, CCDS48643.1
International Mouse Knockout Project Status	Pip5k1c

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033475	VEGA Gene Model | MGI Sequence Detail	27011	C57BL/6J
transcript	OTTMUST00000084129	VEGA | MGI Sequence Detail	4323	Not Applicable
polypeptide	OTTMUSP00000045293	VEGA | MGI Sequence Detail	687	Not Applicable

All sequences(93) RefSeq(4) UniProt(7)

Polymorphisms

SNPs(64 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR023610	Phosphatidylinositol-4-phosphate 5-kinase
InterPro	IPR002498	Phosphatidylinositol-4-phosphate 5-kinase, core
InterPro	IPR016034	Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup
InterPro	IPR027483	Phosphatidylinositol-4-phosphate 5-kinase, C-terminal
InterPro	IPR027484	Phosphatidylinositol-4-phosphate 5-kinase, N-terminal domain
Protein Ontology	PR:000012746	phosphatidylinositol-4-phosphate 5-kinase type-1 gamma

References

(Earliest) J:46962 Ishihara H, et al., Type I phosphatidylinositol-4-phosphate 5-kinases. Cloning of the third isoform and deletion/ substitution analysis of members of this novel lipid kinase family. J Biol Chem. 1998 Apr 10;273(15):8741-8
(Latest) J:188582 Rodriguez L, et al., Reduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisition. Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):14013-8
All references(55)

Other accession IDs

MGI:2143524, MGI:2143672