Aliases for PIP5K1B Gene

Aliases for PIP5K1B Gene

  • Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Beta 2 3 5
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type I Beta 3 4
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Beta 3 4
  • Type I Phosphatidylinositol 4-Phosphate 5-Kinase Beta 3 4
  • PtdIns(4)P-5-Kinase 1 Beta 3 4
  • Protein STM-7 3 4
  • PIP5K1-Beta 3 4
  • EC 4 52
  • PIP5KIbeta 3 4
  • STM7 3 4
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Beta 2
  • EC 2.7.1 52
  • MSS4 3

External Ids for PIP5K1B Gene

Previous GeneCards Identifiers for PIP5K1B Gene

  • GC09P062364
  • GC09P063177
  • GC09P064890
  • GC09P066777
  • GC09P068550
  • GC09P070510
  • GC09P071320
  • GC09P041166

Summaries for PIP5K1B Gene

GeneCards Summary for PIP5K1B Gene

PIP5K1B (Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Beta) is a Protein Coding gene. Diseases associated with PIP5K1B include Friedreich Ataxia. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol phosphate kinase activity and 1-phosphatidylinositol-4-phosphate 5-kinase activity. An important paralog of this gene is PIP5K1C.

UniProtKB/Swiss-Prot Summary for PIP5K1B Gene

  • Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity).

Gene Wiki entry for PIP5K1B Gene

Additional gene information for PIP5K1B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIP5K1B Gene

Genomics for PIP5K1B Gene

GeneHancer (GH) Regulatory Elements for PIP5K1B Gene

Promoters and enhancers for PIP5K1B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J068777 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 514.1 +75.6 75623 5.9 FOXK2 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 USF1 POLR2G SP1 PIP5K1B FAM122A FAM189A2 ENSG00000236998 LOC100421655 lnc-PRKACG-6 lnc-FAM122A-1
GH09J068704 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.6 +3.1 3099 8.2 CTCF NRF1 POLR2G ZFX ZBTB11 ZBTB26 REST RELA ZBTB25 ZNF740 PIP5K1B FAM122A PRKACG ENSG00000236733 lnc-FAM122A-1
GH09J068751 Promoter/Enhancer 0.6 EPDnew dbSUPER 511.8 +46.7 46682 0.1 HLF PIP5K1B FAM122A RNU6-820P PRKACG lnc-FAM122A-1
GH09J068952 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +246.3 246284 4.6 SP1 CTCF RAD21 CTBP1 TRIM22 BCL11A TCF12 SRF SPI1 BATF PIP5K1B PRKACG FAM122A TJP2 lnc-PRKACG-5 LOC101927069
GH09J068806 Enhancer 0.8 Ensembl dbSUPER 31.1 +100.7 100684 2.6 CTBP1 PBX2 NCOR1 TAL1 NR2F1 HDAC2 NR2F6 MEIS2 KLF1 ZBTB40 PIP5K1B FAM122A ENSG00000236733 PRKACG LOC100421655 lnc-PRKACG-6 ENSG00000236998
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIP5K1B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIP5K1B

Top Transcription factor binding sites by QIAGEN in the PIP5K1B gene promoter:
  • c-Myb
  • C/EBPbeta
  • E47
  • FOXI1
  • GATA-6
  • HFH-3
  • Nkx2-5
  • Pax-2
  • Pax-2a
  • Pax-2b

Genomic Locations for PIP5K1B Gene

Genomic Locations for PIP5K1B Gene
303,960 bases
Plus strand
303,518 bases
Plus strand

Genomic View for PIP5K1B Gene

Genes around PIP5K1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIP5K1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIP5K1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIP5K1B Gene

Proteins for PIP5K1B Gene

  • Protein details for PIP5K1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphatidylinositol 4-phosphate 5-kinase type-1 beta
    Protein Accession:
    Secondary Accessions:
    • A8K9L9
    • B4DIG7
    • P78518
    • P78519
    • Q5T5K6
    • Q5T5K8
    • Q5T5K9
    • Q5VZ00
    • Q7KYT5
    • Q8NHQ5
    • Q92749

    Protein attributes for PIP5K1B Gene

    540 amino acids
    Molecular mass:
    61036 Da
    Quaternary structure:
    • Interacts with RAC1, AJUBA, PLD1, PLD2 and ARF1.

    Alternative splice isoforms for PIP5K1B Gene


neXtProt entry for PIP5K1B Gene

Selected DME Specific Peptides for PIP5K1B Gene


Post-translational modifications for PIP5K1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PIP5K1B Gene

Gene Families for PIP5K1B Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PIP5K1B Gene

  • Phosphatidylinositol-4-phosphate 5-kinase

Suggested Antigen Peptide Sequences for PIP5K1B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54445, highly similar to Phosphatidylinositol-4-phosphate 5-kinasetype-1 beta (EC (B4DIG7_HUMAN)
  • Type I phosphatidylinositol-4-phosphate 5-kinase beta (PI51B_HUMAN)
  • Type I phosphatidylinositol-4-phosphate 5-kinase beta (Q7KYT4_HUMAN)
  • Type I phosphatidylinositol-4-phosphate 5-kinase beta (Q7KYT6_HUMAN)
genes like me logo Genes that share domains with PIP5K1B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PIP5K1B Gene

Function for PIP5K1B Gene

Molecular function for PIP5K1B Gene

UniProtKB/Swiss-Prot Function:
Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:14425, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58178, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=;.
GENATLAS Biochemistry:
phosphatidylinositol-4-phosphate-5-kinase,type 1 beta,sequence,widely expressed,with an open reading frame of 1620bp,extending upon 220kb,overlapping D9S887,D9S888,D9S889,with the 3'utr of PRKACG contributing to exon 17,extending distally in the Friedreich critical region strongly homolog to yeast MSS4,putatively involved in signal transduction,excluded as a candidate gene for FRDA

Enzyme Numbers (IUBMB) for PIP5K1B Gene

Phenotypes From GWAS Catalog for PIP5K1B Gene

Gene Ontology (GO) - Molecular Function for PIP5K1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20442317
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016307 phosphatidylinositol phosphate kinase activity IEA --
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity NAS 8955136
genes like me logo Genes that share ontologies with PIP5K1B: view
genes like me logo Genes that share phenotypes with PIP5K1B: view

Animal Models for PIP5K1B Gene

MGI Knock Outs for PIP5K1B:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PIP5K1B Gene

Localization for PIP5K1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIP5K1B Gene

Endomembrane system. Note=Associated with membranes. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIP5K1B gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIP5K1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001931 uropod IDA 20442317
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PIP5K1B: view

Pathways & Interactions for PIP5K1B Gene

genes like me logo Genes that share pathways with PIP5K1B: view

Pathways by source for PIP5K1B Gene

3 GeneGo (Thomson Reuters) pathways for PIP5K1B Gene
  • G-protein signaling RAC1 in cellular process
  • Immune response CD28 signaling
  • Inhibitory action of Lipoxins on neutrophil migration
7 Qiagen pathways for PIP5K1B Gene
  • Actin-Based Motility by Rho Family GTPases
  • Aldosterone Signaling in Epithelial Cells
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
  • Integrin Pathway
  • Rac1 Pathway

SIGNOR curated interactions for PIP5K1B Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PIP5K1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0014066 regulation of phosphatidylinositol 3-kinase signaling TAS --
GO:0016310 phosphorylation IEA --
GO:0046488 phosphatidylinositol metabolic process IEA --
GO:0046854 phosphatidylinositol phosphorylation IEA --
genes like me logo Genes that share ontologies with PIP5K1B: view

Drugs & Compounds for PIP5K1B Gene

(2) Additional Compounds for PIP5K1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PIP5K1B: view

Transcripts for PIP5K1B Gene

mRNA/cDNA for PIP5K1B Gene

8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIP5K1B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: - - - - -
SP2: -
SP3: -
SP4: - -
SP5: - - - - - -
SP6: -

Relevant External Links for PIP5K1B Gene

GeneLoc Exon Structure for

Expression for PIP5K1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIP5K1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIP5K1B Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.1) and Heart - Left Ventricle (x4.0).

Protein differential expression in normal tissues from HIPED for PIP5K1B Gene

This gene is overexpressed in Testis (39.5) and Retina (23.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIP5K1B Gene

Protein tissue co-expression partners for PIP5K1B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIP5K1B

SOURCE GeneReport for Unigene cluster for PIP5K1B Gene:


mRNA Expression by UniProt/SwissProt for PIP5K1B Gene:

Tissue specificity: Detected in heart, pancreas, brain, kidney, skeletal muscle and lung.

Evidence on tissue expression from TISSUES for PIP5K1B Gene

  • Nervous system(4.5)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with PIP5K1B: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PIP5K1B Gene

Orthologs for PIP5K1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIP5K1B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PIP5K1B 31 30
  • 99.51 (n)
(Monodelphis domestica)
Mammalia PIP5K1B 31
  • 93 (a)
(Bos Taurus)
Mammalia PIP5K1B 31 30
  • 92.46 (n)
(Canis familiaris)
Mammalia PIP5K1B 31 30
  • 91.85 (n)
(Ornithorhynchus anatinus)
Mammalia PIP5K1B 31
  • 90 (a)
(Rattus norvegicus)
Mammalia Pip5k1b 30
  • 88.06 (n)
(Mus musculus)
Mammalia Pip5k1b 17 31 30
  • 88 (n)
(Gallus gallus)
Aves PIP5K1B 31 30
  • 79.94 (n)
(Anolis carolinensis)
Reptilia PIP5K1B 31
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pip5k1b 30
  • 74.55 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398687 30
(Danio rerio)
Actinopterygii pip5k1bb 31 30
  • 69.13 (n)
pip5k1ba 31
  • 67 (a)
Dr.14775 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13867 30
fruit fly
(Drosophila melanogaster)
Insecta sktl 31 32
  • 32 (a)
PIP5K59B 31
  • 32 (a)
(Caenorhabditis elegans)
Secernentea ppk-1 31 32
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSS4 31
  • 19 (a)
(Oryza sativa)
Liliopsida Os03g0262000 30
  • 48.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02295 30
  • 45.97 (n)
Species where no ortholog for PIP5K1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIP5K1B Gene

Gene Tree for PIP5K1B (if available)
Gene Tree for PIP5K1B (if available)
Evolutionary constrained regions (ECRs) for PIP5K1B: view image

Paralogs for PIP5K1B Gene

Paralogs for PIP5K1B Gene

(7) SIMAP similar genes for PIP5K1B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PIP5K1B: view

Variants for PIP5K1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIP5K1B Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
770386 Benign: not provided 68,780,097(+) C/G FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs55897616 - p.Ala415Thr

Additional dbSNP identifiers (rs#s) for PIP5K1B Gene

Structural Variations from Database of Genomic Variants (DGV) for PIP5K1B Gene

Variant ID Type Subtype PubMed ID
dgv7665n100 CNV gain 25217958
dgv7666n100 CNV gain 25217958
esv2422258 CNV duplication 17116639
esv2664413 CNV deletion 23128226
esv2759693 CNV gain 17122850
esv2761530 CNV loss 21179565
esv3302888 CNV tandem duplication 20981092
esv3573238 CNV loss 25503493
esv3576657 CNV gain 25503493
esv3620546 CNV gain 21293372
esv3620547 CNV loss 21293372
esv3620548 CNV loss 21293372
esv3620550 CNV loss 21293372
esv3891677 CNV gain 25118596
esv3891678 CNV gain 25118596
esv3891679 CNV gain 25118596
nsv1026962 CNV gain 25217958
nsv466393 CNV gain 19166990
nsv466397 CNV gain 19166990
nsv472324 CNV novel sequence insertion 20440878
nsv477003 CNV novel sequence insertion 20440878
nsv614547 CNV gain 21841781
nsv614548 CNV gain 21841781
nsv614549 CNV gain 21841781
nsv614550 CNV gain 21841781
nsv614551 CNV loss 21841781
nsv6548 CNV deletion 18451855

Variation tolerance for PIP5K1B Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIP5K1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIP5K1B Gene

Disorders for PIP5K1B Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIP5K1B Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
friedreich ataxia
  • fa
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PIP5K1B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PIP5K1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIP5K1B Gene

Publications for PIP5K1B Gene

  1. Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity. (PMID: 9177790) Pook MA … Chamberlain S (Genomics 1997) 2 3 4 23 54
  2. The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. (PMID: 8841185) Carvajal JJ … Chamberlain S (Nature genetics 1996) 2 3 4 23 54
  3. Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family. (PMID: 8955136) Loijens JC … Anderson RA (The Journal of biological chemistry 1996) 3 4 23 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) Köttgen A … Fox CS (Nature genetics 2010) 3 41 54

Products for PIP5K1B Gene

  • Signalway ELISA kits for PIP5K1B
  • Signalway Proteins for PIP5K1B

Sources for PIP5K1B Gene