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PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [ Homo sapiens (human) ]

Gene ID: 23396, updated on 13-Feb-2019

Summary

Official Symbol
PIP5K1Cprovided by HGNC
Official Full Name
phosphatidylinositol-4-phosphate 5-kinase type 1 gammaprovided by HGNC
Primary source
HGNC:HGNC:8996
See related
Ensembl:ENSG00000186111 MIM:606102
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LCCS3; PIP5Kgamma; PIP5K-GAMMA; PIP5K1-gamma
Summary
This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
Expression
Broad expression in testis (RPKM 14.7), brain (RPKM 13.9) and 25 other tissues See more
Orthologs

Genomic context

See PIP5K1C in Genome Data Viewer
Location:
19p13.3
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (3630181..3700492, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3630179..3700484, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene thromboxane A2 receptor Neighboring gene CACTIN antisense RNA 1 Neighboring gene cactin, spliceosome C complex subunit Neighboring gene tight junction protein 3 Neighboring gene uncharacterized LOC105372248 Neighboring gene amyloid beta precursor protein binding family A member 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0589

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-phosphatidylinositol-4-phosphate 5-kinase activity TAS
Traceable Author Statement
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
adherens junction assembly TAS
Traceable Author Statement
more info
PubMed 
cell-cell adhesion TAS
Traceable Author Statement
more info
PubMed 
clathrin-dependent endocytosis TAS
Traceable Author Statement
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
neutrophil chemotaxis TAS
Traceable Author Statement
more info
PubMed 
phagocytosis TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
 
synaptic vesicle endocytosis TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle exocytosis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
phagocytic cup IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 
uropod TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
Names
diphosphoinositide kinase
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
ptdIns(4)P-5-kinase 1 gamma
type I PIP kinase
NP_001182662.1
NP_001287778.1
NP_036530.1
XP_011526147.1
XP_011526148.1
XP_011526150.1
XP_011526151.1
XP_011526152.1
XP_011526153.1
XP_011526155.1
XP_016882029.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012161.2 RefSeqGene

    Range
    4969..75267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195733.1NP_001182662.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1, also known as PIPKIgamma640 and PIPKIgamma87).
    Source sequence(s)
    AB011161, AK315912, BC011138, DC389567, R46767
    Consensus CDS
    CCDS56074.1
    UniProtKB/Swiss-Prot
    O60331
    Related
    ENSP00000445992.1, ENST00000539785.5
    Conserved Domains (1) summary
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases
  2. NM_001300849.1NP_001287778.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 3

    See identical proteins and their annotated locations for NP_001287778.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as PIPKIgamma_v5) encodes the longest isoform (3, also known as PIPKIgamma_i5).
    Source sequence(s)
    FJ965537, HY000479
    Consensus CDS
    CCDS74257.1
    UniProtKB/Swiss-Prot
    O60331
    Related
    ENSP00000466363.1, ENST00000589578.5
    Conserved Domains (2) summary
    PHA03151
    Location:497672
    PHA03151; hypothetical protein; Provisional
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases
  3. NM_012398.2NP_036530.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 2

    See identical proteins and their annotated locations for NP_036530.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate, in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2, also known as PIPKIgamma668 and PIPKIgamma90) is longer and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB011161, AK315912, BC011138, DC389567, R46767
    Consensus CDS
    CCDS32872.1
    UniProtKB/Swiss-Prot
    O60331
    Related
    ENSP00000335333.2, ENST00000335312.7
    Conserved Domains (1) summary
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    3630181..3700492 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026540.2XP_016882029.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X4

  2. XM_011527846.1XP_011526148.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X2

    Conserved Domains (1) summary
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases
  3. XM_011527849.1XP_011526151.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X5

    Conserved Domains (1) summary
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases
  4. XM_011527848.1XP_011526150.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X3

    Conserved Domains (2) summary
    PHA03151
    Location:497665
    PHA03151; hypothetical protein; Provisional
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases
  5. XM_011527845.1XP_011526147.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X1

    Conserved Domains (1) summary
    smart00330
    Location:103443
    PIPKc; Phosphatidylinositol phosphate kinases
  6. XM_011527850.2XP_011526152.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X6

    Conserved Domains (1) summary
    smart00330
    Location:58398
    PIPKc; Phosphatidylinositol phosphate kinases
  7. XM_011527851.2XP_011526153.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X7

    Conserved Domains (1) summary
    cl02572
    Location:3111
    PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
  8. XM_011527853.2XP_011526155.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X8

    See identical proteins and their annotated locations for XP_011526155.1

    Conserved Domains (1) summary
    cl02572
    Location:167
    PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
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