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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]
PIP5K1C (Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma) is a Protein Coding gene. Diseases associated with PIP5K1C include Lethal Congenital Contracture Syndrome 3 and Lethal Congenital Contracture Syndrome. Among its related pathways are RET signaling and Phospholipase D signaling pathway. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol phosphate kinase activity and talin binding. An important paralog of this gene is PIP5K1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 23982733 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016301 | kinase activity | IEA | -- |
GO:0016307 | phosphatidylinositol phosphate kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001891 | phagocytic cup | IEA | -- |
GO:0001931 | uropod | TAS | 19889969 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | GAB1 signalosome |
.89
|
|
3 | Inositol phosphate metabolism (KEGG) | ||
4 | Metabolism |
.40
|
|
5 | Phospholipase D signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0006887 | exocytosis | IEA | -- |
GO:0006897 | endocytosis | IEA | -- |
GO:0006909 | phagocytosis | TAS | 19889969 |
GO:0006935 | chemotaxis | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1-Phosphatidyl-D-myo-inositol |
|
|
||||
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIP5K1C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PIP5K1C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIP5K1C 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PIP5K1C 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pip5k1c 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pip5k1c 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PIP5K1C 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PIP5K1C 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pip5k1c 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pip5k1cb 30 31 |
|
OneToMany | |
pip5k1ca 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5845 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | PIP5K59B 31 |
|
ManyToMany | |
sktl 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ppk-1 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSS4 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
694416 | Likely Benign: Lethal congenital contractural syndrome 3 | 3,648,688(-) | A/G | MISSENSE_VARIANT | |
708268 | Benign: not provided | 3,644,091(-) | G/A | SYNONYMOUS_VARIANT | |
708469 | Benign: not provided | 3,633,466(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
715835 | Benign: not provided | 3,644,181(-) | G/A | SYNONYMOUS_VARIANT | |
716239 | Benign: not provided | 3,633,475(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1977e59 | CNV | duplication | 20981092 |
dgv492e201 | CNV | deletion | 23290073 |
dgv493e201 | CNV | deletion | 23290073 |
dgv494e201 | CNV | deletion | 23290073 |
esv1403607 | CNV | deletion | 17803354 |
esv2717955 | CNV | deletion | 23290073 |
esv2717957 | CNV | deletion | 23290073 |
esv2717963 | CNV | deletion | 23290073 |
esv2717964 | CNV | deletion | 23290073 |
esv2717965 | CNV | deletion | 23290073 |
esv2717966 | CNV | deletion | 23290073 |
esv2717967 | CNV | deletion | 23290073 |
esv28172 | CNV | gain | 19812545 |
esv3555884 | CNV | deletion | 23714750 |
nsv1118806 | CNV | deletion | 24896259 |
nsv1127643 | CNV | deletion | 24896259 |
nsv470114 | CNV | loss | 18288195 |
nsv509718 | CNV | insertion | 20534489 |
nsv828400 | CNV | gain | 20364138 |
nsv953948 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lethal congenital contracture syndrome 3 |
|
|
lethal congenital contracture syndrome |
|
|
lethal congenital contracture syndrome 2 |
|
|
neurogenic bladder |
|
|
cerebellar ataxia, cayman type |
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