Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8395
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol-4-phosphate 5-kinase type 1 beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIP5K1B
Synonyms (NCBI Gene) Gene synonyms aliases
MSS4, STM7
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.11
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001931 Component Uropod IDA 20442317
GO:0005515 Function Protein binding IPI 20442317
GO:0005524 Function ATP binding IEA
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602745 8995 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
LEHSWKALVYDGDTVSVHRPSFYADRFLKFMNSR
VFKKIQALKASPSKKRCNSIAALKAT
SQEIVSSISQEWKDEKRDLLTEGQSFSSLDEEALGSRHRPDLVPSTPSLFEAASLATTIS
SSSLYVNEHYPHDRPTLYSNSKGLPSSSTFTLEEGTIYLTAEPNTLEVQDDNASVLDVYL
Sequence length 540
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  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
  Synthesis of PIPs at the plasma membrane
WNT mediated activation of DVL
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes Diabetes rs80356611 31451708
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
31451708
Kidney disease Chronic Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 22479191, 20383146
Unknown
Disease term Disease name Evidence References Source
Kidney Disease Kidney Disease GWAS
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 26840709
Adenoma Stimulate 35260162
Disorders of Sex Development Stimulate 24055526
Gonadal Dysgenesis 46 XY Associate 24055526
Hodgkin Disease Associate 30347596
Renal Insufficiency Chronic Associate 20383146, 29016630
Tuberculosis Multidrug Resistant Associate 30347596