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PIP5K1C

GENERAL INFORMATION

Gene name

 PIP5K1C

Gene description

 Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA017168
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 PIP5K1C (HGNC Symbol)

Synonyms

 KIAA0589, LCCS3, PIP5Kgamma

Description

 Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (HGNC Symbol)

Entrez gene 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]

Chromosome

 19

Cytoband

 p13.3

Chromosome location (bp)

 3630183 - 3700479

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000186111 (version 83.38)

Entrez gene

 23396

UniProt

 O60331 (UniProt - Evidence at protein level)

neXtProt

 NX_O60331

Antibodypedia

 PIP5K1C antibodies

PROTEIN BROWSER
PIP5K1C-001
PIP5K1C-002
PIP5K1C-003
PIP5K1C-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PIP5K1C-001
ENSP00000335333
ENST00000335312
O60331 [Direct mapping]
Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001891 [phagocytic cup]
GO:0001931 [uropod]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0005925 [focal adhesion]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0006909 [phagocytosis]
GO:0007411 [axon guidance]
GO:0012505 [endomembrane system]
GO:0016079 [synaptic vesicle exocytosis]
GO:0016307 [phosphatidylinositol phosphate kinase activity]
GO:0016308 [1-phosphatidylinositol-4-phosphate 5-kinase activity]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030036 [actin cytoskeleton organization]
GO:0030593 [neutrophil chemotaxis]
GO:0032587 [ruffle membrane]
GO:0034333 [adherens junction assembly]
GO:0044281 [small molecule metabolic process]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046854 [phosphatidylinositol phosphorylation]
GO:0048488 [synaptic vesicle endocytosis]
GO:0072583 [clathrin-mediated endocytosis]
Show all
 668 aa
73.3 kDa 		No 0
PIP5K1C-002
ENSP00000445992
ENST00000539785
O60331 [Direct mapping]
Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001891 [phagocytic cup]
GO:0001931 [uropod]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0005925 [focal adhesion]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0006909 [phagocytosis]
GO:0007411 [axon guidance]
GO:0012505 [endomembrane system]
GO:0016079 [synaptic vesicle exocytosis]
GO:0016307 [phosphatidylinositol phosphate kinase activity]
GO:0016308 [1-phosphatidylinositol-4-phosphate 5-kinase activity]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030036 [actin cytoskeleton organization]
GO:0030593 [neutrophil chemotaxis]
GO:0032587 [ruffle membrane]
GO:0034333 [adherens junction assembly]
GO:0044281 [small molecule metabolic process]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046854 [phosphatidylinositol phosphorylation]
GO:0048488 [synaptic vesicle endocytosis]
GO:0072583 [clathrin-mediated endocytosis]
Show all
 640 aa
70.2 kDa 		No 0
PIP5K1C-003
ENSP00000466363
ENST00000589578
O60331 [Direct mapping]
Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001891 [phagocytic cup]
GO:0001931 [uropod]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005623 [cell]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0005925 [focal adhesion]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0006909 [phagocytosis]
GO:0007016 [cytoskeletal anchoring at plasma membrane]
GO:0007409 [axonogenesis]
GO:0007411 [axon guidance]
GO:0012505 [endomembrane system]
GO:0016079 [synaptic vesicle exocytosis]
GO:0016307 [phosphatidylinositol phosphate kinase activity]
GO:0016308 [1-phosphatidylinositol-4-phosphate 5-kinase activity]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030036 [actin cytoskeleton organization]
GO:0030593 [neutrophil chemotaxis]
GO:0032587 [ruffle membrane]
GO:0034333 [adherens junction assembly]
GO:0044281 [small molecule metabolic process]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046854 [phosphatidylinositol phosphorylation]
GO:0048488 [synaptic vesicle endocytosis]
GO:0070527 [platelet aggregation]
GO:0072583 [clathrin-mediated endocytosis]
GO:1990147 [talin binding]
Show all
 707 aa
77.5 kDa 		No 0
PIP5K1C-005
ENSP00000444779
ENST00000537021
O60331 [Direct mapping]
Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001891 [phagocytic cup]
GO:0001931 [uropod]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0005925 [focal adhesion]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0006909 [phagocytosis]
GO:0007411 [axon guidance]
GO:0012505 [endomembrane system]
GO:0016079 [synaptic vesicle exocytosis]
GO:0016307 [phosphatidylinositol phosphate kinase activity]
GO:0016308 [1-phosphatidylinositol-4-phosphate 5-kinase activity]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030036 [actin cytoskeleton organization]
GO:0030593 [neutrophil chemotaxis]
GO:0032587 [ruffle membrane]
GO:0034333 [adherens junction assembly]
GO:0044281 [small molecule metabolic process]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046854 [phosphatidylinositol phosphorylation]
GO:0048488 [synaptic vesicle endocytosis]
GO:0072583 [clathrin-mediated endocytosis]
Show all
 700 aa
76.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.