• Gene id: 8395

Gene Summary

• Gene Symbol: PIP5K1B   Gene   UCSC   Ensembl
• Aliases: MSS4, STM7
• Gene name: phosphatidylinositol-4-phosphate 5-kinase type 1 beta
• Alternate names: phosphatidylinositol 4-phosphate 5-kinase type-1 beta, PIP5K1-beta, PIP5KIbeta, phosphatidylinositol 4-phosphate 5-kinase type I beta, protein STM-7, ptdIns(4)P-5-kinase 1 beta, type I phosphatidylinositol 4-phosphate 5-kinase beta,
• Gene location: 9q21.11 (68705239: 69009175)     Exons: 21     NC_000009.12
• OMIM: 602745

Protein Summary

• Protein general information: O14986  
  • Name: Phosphatidylinositol 4 phosphate 5 kinase type 1 beta (PIP5K1 beta) (PtdIns(4)P 5 kinase 1 beta) (EC 2.7.1.68) (Phosphatidylinositol 4 phosphate 5 kinase type I beta) (PIP5KIbeta) (Protein STM 7) (Type I phosphatidylinositol 4 phosphate 5 kinase beta)
  • Length: 540  
  • Mass: 61036
  • Tissue specificity: Detected in heart, pancreas, brain, kidney, skeletal muscle and lung. {ECO
• Sequence:

  MSSAAENGEAAPGKQNEEKTYKKTASSAIKGAIQLGIGYTVGNLTSKPERDVLMQDFYVVESVFLPSEGSNLTPA
  HHYPDFRFKTYAPLAFRYFRELFGIKPDDYLYSICSEPLIELSNPGASGSLFFVTSDDEFIIKTVQHKEAEFLQK
  LLPGYYMNLNQNPRTLLPKFYGLYCMQSGGINIRIVVMNNVLPRSMRMHFTYDLKGSTYKRRASRKEREKSNPTF
  KDLDFLQDMHEGLYFDTETYNALMKTLQRDCRVLESFKIMDYSLLLGIHFLDHSLKEKEEETPQNVPDAKRTGMQ
  KVLYSTAMESIQGPGKSGDGIITENPDTMGGIPAKSHRGEKLLLFMGIIDILQSYRLMKKLEHSWKALVYDGDTV
  SVHRPSFYADRFLKFMNSRVFKKIQALKASPSKKRCNSIAALKATSQEIVSSISQEWKDEKRDLLTEGQSFSSLD
  EEALGSRHRPDLVPSTPSLFEAASLATTISSSSLYVNEHYPHDRPTLYSNSKGLPSSSTFTLEEGTIYLTAEPNT
  LEVQDDNASVLDVYL

• Structural information:
  • Protein Domains: (25..39-)
    (/note="PIPK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00781"-)
  • Interpro: IPR023610  IPR027483  IPR002498  IPR027484  
  • Prosite: PS51455
  • STRING: ENSP00000265382
• Other Databases: GeneCards:  PIP5K1B  Malacards:  PIP5K1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001931	uropod	IDA	cellular component
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:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	IEA	biological process
GO:0012505	endomembrane system	IEA	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:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	NAS	molecular function

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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)