PIP5K1B (phosphatidylinositol-4-phosphate 5-kinase type 1 beta)

Gene

• Entrez ID: 8395
• Gene name: Phosphatidylinositol-4-phosphate 5-kinase type 1 beta
• Gene symbol: PIP5K1B
• Synonyms (NCBI Gene): MSS4, STM7
• Chromosome: 9
• Chromosome location: 9q21.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2069424	hsa-miR-1206	CLIP-seq
MIRT2069425	hsa-miR-128	CLIP-seq
MIRT2069426	hsa-miR-27a	CLIP-seq
MIRT2069427	hsa-miR-27b	CLIP-seq
MIRT2069428	hsa-miR-412	CLIP-seq
MIRT2069429	hsa-miR-4277	CLIP-seq
MIRT2069430	hsa-miR-4291	CLIP-seq
MIRT2069431	hsa-miR-513a-5p	CLIP-seq
MIRT2069432	hsa-miR-545	CLIP-seq
MIRT2069424	hsa-miR-1206	CLIP-seq
MIRT2069425	hsa-miR-128	CLIP-seq
MIRT2069426	hsa-miR-27a	CLIP-seq
MIRT2069427	hsa-miR-27b	CLIP-seq
MIRT2069428	hsa-miR-412	CLIP-seq
MIRT2069429	hsa-miR-4277	CLIP-seq
MIRT2069431	hsa-miR-513a-5p	CLIP-seq
MIRT2594237	hsa-miR-24	CLIP-seq
MIRT2594238	hsa-miR-3151	CLIP-seq
MIRT2594239	hsa-miR-3157-5p	CLIP-seq
MIRT2594240	hsa-miR-3691-5p	CLIP-seq
MIRT2594241	hsa-miR-4283	CLIP-seq
MIRT2594242	hsa-miR-4437	CLIP-seq
MIRT2594243	hsa-miR-4480	CLIP-seq
MIRT2594244	hsa-miR-4489	CLIP-seq
MIRT2594245	hsa-miR-4691-3p	CLIP-seq
MIRT2594246	hsa-miR-4752	CLIP-seq
MIRT2594237	hsa-miR-24	CLIP-seq
MIRT2594238	hsa-miR-3151	CLIP-seq
MIRT2594239	hsa-miR-3157-5p	CLIP-seq
MIRT2594240	hsa-miR-3691-5p	CLIP-seq
MIRT2594241	hsa-miR-4283	CLIP-seq
MIRT2594242	hsa-miR-4437	CLIP-seq
MIRT2594243	hsa-miR-4480	CLIP-seq
MIRT2594244	hsa-miR-4489	CLIP-seq
MIRT2594245	hsa-miR-4691-3p	CLIP-seq
MIRT2594246	hsa-miR-4752	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000285	Function	1-phosphatidylinositol-3-phosphate 5-kinase activity	TAS
GO:0001931	Component	Uropod	IDA	20442317
GO:0005515	Function	Protein binding	IPI	20442317
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	IBA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	ISS
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	NAS	8955136
GO:0016308	Function	1-phosphatidylinositol-4-phosphate 5-kinase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IBA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS
GO:0052742	Function	Phosphatidylinositol kinase activity	IEA
GO:0052742	Function	Phosphatidylinositol kinase activity	TAS
GO:0052810	Function	1-phosphatidylinositol-5-kinase activity	TAS

Other IDs

• MIM: 602745
• HGNC: 8995
• e!Ensembl: ENSG00000107242

Protein

• UniProt ID: O14986
• Protein 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)
• Protein function: Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transductio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01504	PIP5K	110 → 394	Phosphatidylinositol-4-phosphate 5-Kinase	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in heart, pancreas, brain, kidney, skeletal muscle and lung. {ECO:0000269|PubMed:8955136}.
• Sequence:

  MSSAAENGEAAPGKQNEEKTYKKTASSAIKGAIQLGIGYTVGNLTSKPERDVLMQDFYVV
  ESVFLPSEGSNLTPAHHYPDFRFKTYAPLAFRYFRELFGIKPDDYLYSICSEPLIELSNP
  GASGSLFFVTSDDEFIIKTVQHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCMQSGG
  INIRIVVMNNVLPRSMRMHFTYDLKGSTYKRRASRKEREKSNPTFKDLDFLQDMHEGLYF
  DTETYNALMKTLQRDCRVLESFKIMDYSLLLGIHFLDHSLKEKEEETPQNVPDAKRTGMQ
  KVLYSTAMESIQGPGKSGDGIITENPDTMGGIPAKSHRGEKLLLFMGIIDILQSYRLMKK
  LEHSWKALVYDGDTVSVHRPSFYADRFLKFMNSRVFKKIQALKASPSKKRCNSIAALKAT
  SQEIVSSISQEWKDEKRDLLTEGQSFSSLDEEALGSRHRPDLVPSTPSLFEAASLATTIS
  SSSLYVNEHYPHDRPTLYSNSKGLPSSSTFTLEEGTIYLTAEPNTLEVQDDNASVLDVYL
  

• Sequence length: 540

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phospholipase D signaling pathway
Endocytosis
Focal adhesion
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Yersinia infection
Choline metabolism in cancer

Reactome:

Synthesis of PIPs at the plasma membrane
WNT mediated activation of DVL
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	24188128		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	20383146, 22479191		★☆☆☆☆ Found in Text Mining only
Dental caries pit and fissure	Dental caries	GWASCAT_DG	23470693		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	24055526	Stimulate	★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	23552101, 24194977, 8841185, 9177790		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	10735274, 23552101, 24194977		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	30347596	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	20383146, 31152163		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	9441742		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27562202		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30986855		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30986855		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	9441742		★☆☆☆☆ Found in Text Mining only