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Pip5k1c Gene Detail
Summary
  • 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
  • Gene Overview
    MyGene.info: PIP5K1C
Location & Maps
more
  • Sequence Map
    Chr10:81292963-81319973 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27011 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PIP5K1C, phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PIP5K1C, phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
    Orthology source: HGNC, HomoloGene
  • Synonyms
    LCCS3, PIP5K1-gamma, PIP5Kgamma, PIP5K-GAMMA
  • Links
    NCBI Gene ID: 23396
    neXtProt AC: NX_O60331

  • Chr Location
    19p13.3; chr19:3630181-3700492 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PIP5K1C associations

Human Disease Mouse Models
       Lethal Congenital Contracture Syndrome 3; LCCS3   OMIM: 611369
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 10 alleles in 8 genetic backgrounds
    6 phenotypes from multigenic genotypes
    5 images
    25 phenotype references
Phenotype Overview

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
    15
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    9
  • Genomic Mutations
    1 involving Pip5k1c
  • Incidental Mutations
    APF
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033475 VEGA Gene Model | MGI Sequence Detail 27011 C57BL/6J ±  kb
transcript OTTMUST00000084129 VEGA | MGI Sequence Detail 4323 Not Applicable  
polypeptide OTTMUSP00000045293 VEGA | MGI Sequence Detail 687 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    70 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000012746 phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
  • PDB
  • EC
  • InterPro Domains
    IPR023610 Phosphatidylinositol-4-phosphate 5-kinase
    IPR002498 Phosphatidylinositol-4-phosphate 5-kinase, core
    IPR027483 Phosphatidylinositol-4-phosphate 5-kinase, C-terminal
    IPR027484 Phosphatidylinositol-4-phosphate 5-kinase, N-terminal domain
Molecular
Reagents
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  • All nucleic 15
    cDNA 14
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGI:2143524, MGI:2143672
References
more
  • Summaries
    All 61
    Developmental Gene Expression 9
    Gene Ontology 7
    Phenotypes 25
  • 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:215376 Sakagami H, et al., Preferential localization of type I phosphatidylinositol 4-phosphate 5-kinase gamma at the periactive zone of mouse photoreceptor ribbon synapses. Brain Res. 2014 Oct 24;1586:23-33

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory