• Gene id: 8394

Gene Summary

• Gene Symbol: PIP5K1A   Gene   UCSC   Ensembl
• Gene name: phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
• Alternate names: phosphatidylinositol 4-phosphate 5-kinase type-1 alpha, 68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha, PIP5K1-alpha, PIP5KIalpha, phosphatidylinositol 4-phosphate 5-kinase type I alpha, ptdIns(4)P-5-kinase 1 alpha,
• Gene location: 1q21.3 (151197953: 151249535)     Exons: 21     NC_000001.11
• OMIM: 603275

Protein Summary

• Protein general information: Q99755  
  • Name: Phosphatidylinositol 4 phosphate 5 kinase type 1 alpha (PIP5K1 alpha) (PtdIns(4)P 5 kinase 1 alpha) (EC 2.7.1.68) (68 kDa type I phosphatidylinositol 4 phosphate 5 kinase alpha) (Phosphatidylinositol 4 phosphate 5 kinase type I alpha) (PIP5KIalpha)
  • Length: 562  
  • Mass: 62633
  • Tissue specificity: Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels in brain, lung and liver.
• Sequence:

  MASASSGPSSSVGFSSFDPAVPSCTLSSAASGIKRPMASEVLEARQDSYISLVPYASGMPIKKIGHRSVDSSGET
  TYKKTTSSALKGAIQLGITHTVGSLSTKPERDVLMQDFYVVESIFFPSEGSNLTPAHHYNDFRFKTYAPVAFRYF
  RELFGIRPDDYLYSLCSEPLIELCSSGASGSLFYVSSDDEFIIKTVQHKEAEFLQKLLPGYYMNLNQNPRTLLPK
  FYGLYCVQAGGKNIRIVVMNNLLPRSVKMHIKYDLKGSTYKRRASQKEREKPLPTFKDLDFLQDIPDGLFLDADM
  YNALCKTLQRDCLVLQSFKIMDYSLLMSIHNIDHAQREPLSSETQYSVDTRRPAPQKALYSTAMESIQGEARRGG
  TMETDDHMGGIPARNSKGERLLLYIGIIDILQSYRFVKKLEHSWKALVHDGDTVSVHRPGFYAERFQRFMCNTVF
  KKIPLKPSPSKKFRSGSSFSRRAGSSGNSCITYQPSVSGEHKAQVTTKAEVEPGVHLGRPDVLPQTPPLEEISEG
  SPIPDPSFSPLVGETLQMLTTSTTLEKLEVAESEFTH

• Structural information:
  • Protein Domains: (81..44-)
    (/note="PIPK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00781"-)
  • Interpro: IPR023610  IPR027483  IPR002498  IPR027484  
  • Prosite: PS51455
  • DIP: 60649
  • STRING: ENSP00000357883
• Other Databases: GeneCards:  PIP5K1A  Malacards:  PIP5K1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016607	nuclear speck	IDA	cellular component
GO:0005847	mRNA cleavage and polyadenylation specificity factor complex	IDA	colocalizes with
GO:0090630	activation of GTPase activity	IMP	biological process
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0016307	phosphatidylinositol phosphate kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0006650	glycerophospholipid metabolic process	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA	molecular function
GO:0010761	fibroblast migration	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0019900	kinase binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0032587	ruffle membrane	IDA	cellular component
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	IDA	molecular function
GO:0030027	lamellipodium	IDA	cellular component
GO:0008654	phospholipid biosynthetic process	IDA	biological process
GO:0060326	cell chemotaxis	IMP	biological process
GO:0030216	keratinocyte differentiation	TAS	biological process
GO:0016607	nuclear speck	TAS	cellular component
GO:0048041	focal adhesion assembly	IMP	biological process
GO:0016477	cell migration	NAS	biological process
GO:0006909	phagocytosis	TAS	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0031532	actin cytoskeleton reorganization	IMP	biological process
GO:0097178	ruffle assembly	IMP	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04144	Endocytosis
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa04072	Phospholipase D signaling pathway
hsa05135	Yersinia infection
hsa04070	Phosphatidylinositol signaling system
hsa05231	Choline metabolism in cancer
hsa04666	Fc gamma R-mediated phagocytosis
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R