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

Symbol

Pip5k1c
Name

phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma
Synonyms

mKIAA0589, PIP5KIgamma

Feature Type

protein coding gene
IDs

MGI:1298224
NCBI Gene: 18717
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr10:81128797-81155807 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

2 experiments

SNPs within 2kb

588 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1298224	protein coding gene	Chr10:81128669-81155808 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017549	protein coding gene	Chr10:82004036-82032365 (+)
A/J	MGP_AJ_G0017527	protein coding gene	Chr10:79096567-79123598 (+)
AKR/J	MGP_AKRJ_G0017488	protein coding gene	Chr10:81270113-81297113 (+)
BALB/cJ	MGP_BALBcJ_G0017489	protein coding gene	Chr10:79315641-79343213 (+)
C3H/HeJ	MGP_C3HHeJ_G0017312	protein coding gene	Chr10:81365502-81397040 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017943	protein coding gene	Chr10:84816273-84845984 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015632	protein coding gene	Chr10:75293043-75320408 (+)
CAST/EiJ	MGP_CASTEiJ_G0016879	protein coding gene	Chr10:81596094-81624894 (+)
CBA/J	MGP_CBAJ_G0017284	protein coding gene	Chr10:88125852-88156049 (+)
DBA/2J	MGP_DBA2J_G0017390	protein coding gene	Chr10:78301504-78328507 (+)
FVB/NJ	MGP_FVBNJ_G0017384	protein coding gene	Chr10:77549062-77576017 (+)
LP/J	MGP_LPJ_G0017461	protein coding gene	Chr10:82450873-82479578 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017410	protein coding gene	Chr10:89975516-90002510 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017984	protein coding gene	Chr10:81278496-81306730 (+)
PWK/PhJ	MGP_PWKPhJ_G0016660	protein coding gene	Chr10:78194358-78221614 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016450	protein coding gene	Chr10:80221585-80249070 (+)
WSB/EiJ	MGP_WSBEiJ_G0016939	protein coding gene	Chr10:81305685-81334062 (+)

Human Ortholog

PIP5K1C, phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PIP5K1C, phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Synonyms

LCCS3, PIP5K1-gamma, PIP5Kgamma, PIP5K-GAMMA
Links

HGNC:8996

NCBI Gene ID: 23396

neXtProt AC: NX_O60331

UniProt: O60331
Chr Location

19p13.3; chr19:3630183-3700468 (-) GRCh38

MGI Vertebrate Homology

Pip5k1c stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PIP5K1C
Gene Tree

Pip5k1c

Diseases

1 with human PIP5K1C associations

				Human Disease	Mouse Models
				lethal congenital contracture syndrome 3 IDs lethal congenital contracture syndrome 3 DOID:0060653 OMIM:611369 ORDO:137783

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

37 phenotypes from 9 alleles in 8 genetic backgrounds
6 phenotypes from multigenic genotypes
5 images
29 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

5
Targeted

10
Genomic Mutations

1 involving Pip5k1c
Incidental Mutations

APF
Find Mice (IMSR)

41 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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, synaptic transmission and plasticity defects.

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All GO Annotations

38
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1105
Tissues

219
cDNA Data

14
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pip5k1c

ZFIN pip5k1ca, pip5k1cb

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All Sequences

103
RefSeq

20
UniProt

7
CCDS

CCDS35994.1, CCDS48643.1, CCDS78865.1

Ensembl

ENSMUSG00000034902 (Evidence)
NCBI Gene

18717

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034902	Ensembl Gene Model \| MGI Sequence Detail	27011	C57BL/6J	± kb
transcript	ENSMUST00000045469	Ensembl \| MGI Sequence Detail	4323	Not Applicable
polypeptide	ENSMUSP00000038225	Ensembl \| MGI Sequence Detail	687	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000012746 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma

(term hierarchy)
PDB

1Y19, 2H7D, 2H7E
EC

2.7.1.68
InterPro Domains

IPR023610 Phosphatidylinositol-4/5-phosphate 5/4-kinase

IPR002498 Phosphatidylinositol-4-phosphate 4/5-kinase, core

IPR027483 Phosphatidylinositol-4-phosphate 4/5-kinase, C-terminal domain superfamily

IPR027484 Phosphatidylinositol-4-phosphate 5-kinase, N-terminal
GlyGen

O70161 3 sites, 1 O-linked glycan (3 sites)

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All nucleic 17

cDNA 15

Primer pair 1

Other 1

Microarray probesets 5

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MGI:2143524, MGI:2143672

Summaries

All 85

Developmental Gene Expression 13

Gene Ontology 13

Phenotypes 29
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:346747 Ghosh C, et al., Type I gamma phosphatidylinositol phosphate 5-kinase i5 controls cell sensitivity to interferon. Dev Cell. 2024 Mar 1;

TSS for Pip5k1c:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94730	Chr10:81128795-81128839 (+)	20 bp
Tssr94731	Chr10:81128848-81128861 (+)	58 bp
Tssr94732	Chr10:81133188-81133204 (+)	4,399 bp
Tssr94733	Chr10:81153709-81153726 (+)	24,921 bp
Tssr94734	Chr10:81153858-81153862 (+)	25,063 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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