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Pip5k1c phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma [ Mus musculus (house mouse) ]

Gene ID: 18717, updated on 12-May-2024

Summary

Official Symbol
Pip5k1cprovided by MGI
Official Full Name
phosphatidylinositol-4-phosphate 5-kinase, type 1 gammaprovided by MGI
Primary source
MGI:MGI:1298224
See related
Ensembl:ENSMUSG00000034902 AllianceGenome:MGI:1298224
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pip5kIgamma
Summary
Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and talin binding activity. Involved in regulation of postsynaptic neurotransmitter receptor internalization and regulation of synaptic vesicle endocytosis. Acts upstream of or within axonogenesis; phosphatidylinositol biosynthetic process; and platelet aggregation. Located in cytosol and postsynaptic density. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; brain; ganglia; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 3. Orthologous to human PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in cortex adult (RPKM 65.2), frontal lobe adult (RPKM 55.5) and 27 other tissues See more
Orthologs
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Genomic context

See Pip5k1c in Genome Data Viewer
Location:
10 C1; 10 39.72 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (81128669..81155808)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (81292835..81319974)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene amyloid beta precursor protein binding family A member 3 Neighboring gene microRNA 3057 Neighboring gene tight junction protein 3 Neighboring gene STARR-seq mESC enhancer starr_27326 Neighboring gene STARR-positive B cell enhancer ABC_E301 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:80760144-80760253 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:80760802-80760911 Neighboring gene predicted gene 16315 Neighboring gene cactin, spliceosome C complex subunit Neighboring gene thromboxane A2 receptor

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within axonogenesis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cell adhesion IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within chemotaxis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endocytosis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within exocytosis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within phagocytosis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within phosphatidylinositol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within phosphatidylinositol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within phosphatidylinositol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phosphatidylinositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of synaptic vesicle endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of synaptic vesicle endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in endosome membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic density IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in postsynaptic density IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in presynaptic endocytic zone membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
Names
PIP5K1-gamma
phosphatidylinositol 4-phosphate 5-kinase type I gamma
ptdIns(4)P-5-kinase 1 gamma
NP_001140159.1
NP_001280575.1
NP_001280576.1
NP_032870.2
XP_030100812.1
XP_036011583.1

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.

mRNA and Protein(s)

  1. NM_001146687.3NP_001140159.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 2

    See identical proteins and their annotated locations for NP_001140159.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region, compared to variant 3. The encoded protein (isoform 2) is shorter, compared to isoform 3.
    Source sequence(s)
    AC155937
    Consensus CDS
    CCDS48643.1
    UniProtKB/Swiss-Prot
    O70161
    Related
    ENSMUSP00000124155.2, ENSMUST00000163075.8
    Conserved Domains (1) summary
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases
  2. NM_001293646.2NP_001280575.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC155937
    Consensus CDS
    CCDS78865.1
    UniProtKB/TrEMBL
    F8WHW6
    Related
    ENSMUSP00000038225.9, ENSMUST00000045469.15
    Conserved Domains (1) summary
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases
  3. NM_001293647.2NP_001280576.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 4

    See identical proteins and their annotated locations for NP_001280576.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' and 3' coding region, and initiates translation at a downstream start codon, compared to variant 3. The encoded protein (isoform 4) is shorter, compared to isoform 3. Variants 4 and 5 both encode the same isoform (4).
    Source sequence(s)
    AC155937
    UniProtKB/Swiss-Prot
    O70161
    Conserved Domains (1) summary
    cd17301
    Location:1342
    PIPKc_PIP5KI; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in type I phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinases (PIP5KI) and similar proteins
  4. NM_001428750.1NP_001415679.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC155937
  5. NM_008844.4NP_032870.2  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 1

    See identical proteins and their annotated locations for NP_032870.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded protein (isoform 1) is shorter, compared to isoform 3.
    Source sequence(s)
    AC155937
    Consensus CDS
    CCDS35994.1
    UniProtKB/Swiss-Prot
    O70161, Q505A1, Q80TW9, Q8VCU5
    Related
    ENSMUSP00000100964.4, ENSMUST00000105327.10
    Conserved Domains (1) summary
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases

RNA

  1. NR_190488.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC155937

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    81128669..81155808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030244952.1XP_030100812.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X2

    Conserved Domains (1) summary
    cd17301
    Location:1342
    PIPKc_PIP5KI; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in type I phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinases (PIP5KI) and similar proteins
  2. XM_036155690.1XP_036011583.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X1

    Conserved Domains (1) summary
    cd17301
    Location:1342
    PIPKc_PIP5KI; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in type I phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinases (PIP5KI) and similar proteins

RNA

  1. XR_004936128.1 RNA Sequence

  2. XR_003948618.1 RNA Sequence

  3. XR_003948617.1 RNA Sequence

    Related
    ENSMUST00000161854.8
  4. XR_003948619.1 RNA Sequence

  5. XR_003948616.2 RNA Sequence

  6. XR_380377.4 RNA Sequence

  7. XR_003948621.1 RNA Sequence

  8. XR_003948620.2 RNA Sequence