Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	8395
Gene name	Phosphatidylinositol-4-phosphate 5-kinase type 1 beta
Gene symbol	PIP5K1B
Synonyms (NCBI Gene)	MSS4STM7
Chromosome	9
Chromosome location	9q21.11

36 Show/Hide all (36)

miRTarBase ID	miRNA	Experiments
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

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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

MIM	HGNC	e!Ensembl
602745	8995	ENSG00000107242

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

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Inositol phosphate metabolism	Synthesis of PIPs at the plasma membrane
Metabolic pathways	WNT mediated activation of DVL
Phosphatidylinositol signaling system	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Phospholipase D signaling pathway
Endocytosis
Focal adhesion
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Yersinia infection
Choline metabolism in cancer

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC KIDNEY DISEASE	—	GWAS catalog	20383146, 31152163	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	33356394, 39406924	★★★★★ ★★☆☆☆ 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	32766472	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	33816493	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (16)
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

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

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