ENSG00000186111


Homo sapiens

Features
Gene ID: ENSG00000186111
  
Biological name :PIP5K1C
  
Synonyms : O60331 / phosphatidylinositol-4-phosphate 5-kinase type 1 gamma / PIP5K1C
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.3
Gene start: 3630183
Gene end: 3700479
  
Corresponding Affymetrix probe sets: 212518_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000335333
Ensembl peptide - ENSP00000444779
Ensembl peptide - ENSP00000445992
Ensembl peptide - ENSP00000466363
NCBI entrez gene - 23396     See in Manteia.
OMIM - 606102
RefSeq - XM_017026540
RefSeq - NM_001195733
RefSeq - NM_001300849
RefSeq - NM_012398
RefSeq - XM_011527846
RefSeq - XM_011527848
RefSeq - XM_011527849
RefSeq - XM_011527850
RefSeq - XM_011527845
RefSeq Peptide - NP_001287778
RefSeq Peptide - NP_036530
RefSeq Peptide - NP_001182662
swissprot - O60331
Ensembl - ENSG00000186111
  
Related genetic diseases (OMIM): 611369 - Lethal congenital contractural syndrome 3, 611369
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pip5k1caENSDARG00000076001Danio rerio
 pip5k1cbENSDARG00000100313Danio rerio
 PIP5K1CENSGALG00000000784Gallus gallus
 O70161ENSMUSG00000034902Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q99755 / PIP5K1A / phosphatidylinositol-4-phosphate 5-kinase type 1 alphaENSG0000014339851
O14986 / PIP5K1B / phosphatidylinositol-4-phosphate 5-kinase type 1 betaENSG0000010724248
P78356 / PIP4K2B / phosphatidylinositol-5-phosphate 4-kinase type 2 betaENSG0000027629318
P48426 / PIP4K2A / phosphatidylinositol-5-phosphate 4-kinase type 2 alphaENSG0000015086717
Q8TBX8 / PIP4K2C / phosphatidylinositol-5-phosphate 4-kinase type 2 gammaENSG0000016690817
Q5T9C9 / PIP5KL1 / phosphatidylinositol-4-phosphate 5-kinase like 1ENSG0000016710313


Protein motifs (from Interpro)
Interpro ID Name
 IPR002498  Phosphatidylinositol-4-phosphate 5-kinase, core
 IPR023610  Phosphatidylinositol-4-phosphate 5-kinase
 IPR027483  Phosphatidylinositol-4-phosphate 5-kinase, C-terminal
 IPR027484  Phosphatidylinositol-4-phosphate 5-kinase, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006661 phosphatidylinositol biosynthetic process TAS
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006909 phagocytosis TAS
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0014066 regulation of phosphatidylinositol 3-kinase signaling TAS
 biological_processGO:0016079 synaptic vesicle exocytosis TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0030036 actin cytoskeleton organization TAS
 biological_processGO:0030593 neutrophil chemotaxis TAS
 biological_processGO:0034333 adherens junction assembly TAS
 biological_processGO:0046488 phosphatidylinositol metabolic process IEA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048488 synaptic vesicle endocytosis TAS
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0072583 clathrin-dependent endocytosis TAS
 biological_processGO:0098609 cell-cell adhesion TAS
 cellular_componentGO:0001891 phagocytic cup IEA
 cellular_componentGO:0001931 uropod TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005925 focal adhesion TAS
 cellular_componentGO:0010008 endosome membrane IDA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016307 phosphatidylinositol phosphate kinase activity IEA
 molecular_functionGO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0052811 1-phosphatidylinositol-3-phosphate 4-kinase activity TAS
 molecular_functionGO:0052812 phosphatidylinositol-3,4-bisphosphate 5-kinase activity TAS


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the plasma membrane
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002093 Respiratory insufficiency 
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 HP:0002804 Arthrogryposis multiplex congenita 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003811 Neonatal death 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000006607 FARP2 / O94887 / FERM, ARH/RhoGEF and pleckstrin domain protein 2  / complex / reaction
 ENSG00000137076 TLN1 / Q9Y490 / talin 1  / complex






 

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