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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
  • 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 2.7.1.68 4 61
  • PIP5KIbeta 3 4
  • STM7 3 4
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Beta 2
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Beta 3
  • EC 2.7.1 61
  • 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. Among its related pathways are Immune response CCR3 signaling in eosinophils and Phospholipase D signaling pathway. 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 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

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIP5K1B Gene

Genomics for PIP5K1B Gene

Regulatory Elements for PIP5K1B Gene

Enhancers for PIP5K1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G068744 1.5 Ensembl ENCODE dbSUPER 17.3 +42.9 42939 6.8 PKNOX1 ATF1 CREB3L1 ARNT E2F7 TCF12 ELK1 GATA2 FOS NCOA1 FAM122A PIP5K1B PRKACG RNU6-820P GC09P068746
GH09G068777 1.6 FANTOM5 ENCODE dbSUPER 14.1 +74.9 74870 4.4 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 PIP5K1B FAM122A FAM189A2 LOC100421655
GH09G068951 1 FANTOM5 ENCODE 21.2 +246.8 246822 1.3 JUNB TBX21 SP1 IKZF1 EED ZNF143 ETV6 RELB IKZF2 CREM PIP5K1B PRKACG FAM122A TJP2 GC09M068936 RNU6-820P LOC101927069
GH09G068773 0.8 dbSUPER 26 +69.8 69815 2.1 HDAC1 BRD4 LEF1 PKNOX1 CEBPG FOSL1 IRF9 ZNF316 FOS TRIM24 PIP5K1B PRKACG FAM189A2 FAM122A GC09P068746
GH09G068728 1.2 ENCODE dbSUPER 17.2 +26.6 26579 6.6 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 SP5 MXD4 MIER2 PPARG PIP5K1B FAM122A PRKACG GC09P068746 GC09M068708
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIP5K1B on UCSC Golden Path with GeneCards custom track

Promoters for PIP5K1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000235512 683 2201 WRNIP1 ARID4B ZNF2 ZNF48 GLIS2 GATA2 ZNF207 SP3 MXD4 JUNB

Genomic Location for PIP5K1B Gene

Chromosome:
9
Start:
68,705,217 bp from pter
End:
69,009,176 bp from pter
Size:
303,960 bases
Orientation:
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:
    O14986-PI51B_HUMAN
    Recommended name:
    Phosphatidylinositol 4-phosphate 5-kinase type-1 beta
    Protein Accession:
    O14986
    Secondary Accessions:
    • A8K9L9
    • B4DIG7
    • P78518
    • P78519
    • Q5T5K6
    • Q5T5K8
    • Q5T5K9
    • Q5VZ00
    • Q7KYT5
    • Q8NHQ5
    • Q92749

    Protein attributes for PIP5K1B Gene

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

    Alternative splice isoforms for PIP5K1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIP5K1B Gene

Selected DME Specific Peptides for PIP5K1B Gene

O14986:
  • DFRFKTYAP
  • HKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYC
  • RDVLMQDFYVVES
  • NIRIVVMNN
  • PSEGSNLTPAHH
  • IMDYSLL
  • KTLQRDC
  • EPLIELSNPGASGS
  • LPSSSTFTLE
  • GIIDILQ
  • KGAIQLGIGYTVG
  • KKLEHSWKALV
  • VVMNNVLPR
  • NEEKTYKKT
  • DLKGSTYKRRAS
  • DGDTVSVHRP
  • RPDLVPSTPSLFEAASLATT
  • DYSLLLG
  • PTFKDLDFLQD
  • AFRYFRELFGI
  • VLESFKIMDYSLLLG
  • LYSTAMESIQG

Post-translational modifications for PIP5K1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PIP5K1B Gene

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

Function for PIP5K1B Gene

Molecular function for PIP5K1B Gene

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 3utr 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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.
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).

Enzyme Numbers (IUBMB) for PIP5K1B Gene

Gene Ontology (GO) - Molecular Function for PIP5K1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000285 1-phosphatidylinositol-3-phosphate 5-kinase activity TAS --
GO:0005515 protein binding IPI 20442317
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016307 phosphatidylinositol phosphate kinase activity IEA --
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

Inhibitory RNA 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

COMPARTMENTS
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 2

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

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

Unigene Clusters for PIP5K1B Gene

Phosphatidylinositol-4-phosphate 5-kinase, type I, beta:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
PIP5K1B
ECgene alternative splicing isoforms for
PIP5K1B

Expression for PIP5K1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PIP5K1B Gene



Protein tissue co-expression partners for PIP5K1B Gene

NURSA nuclear receptor signaling pathways regulating expression of PIP5K1B Gene:

PIP5K1B

SOURCE GeneReport for Unigene cluster for PIP5K1B Gene:

Hs.534371

mRNA Expression by UniProt/SwissProt for PIP5K1B Gene:

O14986-PI51B_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia PIP5K1B 34 35
  • 99.51 (n)
oppossum
(Monodelphis domestica)
Mammalia PIP5K1B 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIP5K1B 34 35
  • 92.46 (n)
dog
(Canis familiaris)
Mammalia PIP5K1B 34 35
  • 91.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIP5K1B 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pip5k1b 34
  • 88.06 (n)
mouse
(Mus musculus)
Mammalia Pip5k1b 34 16 35
  • 88 (n)
chicken
(Gallus gallus)
Aves PIP5K1B 34 35
  • 79.94 (n)
lizard
(Anolis carolinensis)
Reptilia PIP5K1B 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pip5k1b 34
  • 74.55 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398687 34
zebrafish
(Danio rerio)
Actinopterygii pip5k1bb 34 35
  • 69.13 (n)
pip5k1ba 35
  • 67 (a)
OneToMany
Dr.14775 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13867 34
fruit fly
(Drosophila melanogaster)
Insecta sktl 36 35
  • 53 (a)
PIP5K59B 35
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ppk-1 36 35
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSS4 35
  • 19 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os03g0262000 34
  • 48.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02295 34
  • 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

ENSEMBL:
Gene Tree for PIP5K1B (if available)
TreeFam:
Gene Tree for PIP5K1B (if available)

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 from dbSNP and Humsavar for PIP5K1B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000002117 -- 68,928,835(+) ATGCT(A/G)TAGGT intron-variant
rs1000002476 -- 68,747,402(+) GTGCG(C/T)GCTGT intron-variant
rs1000004611 -- 69,009,154(+) TGAGA(C/G)AAATA utr-variant-3-prime
rs1000018184 -- 68,794,687(+) TGAGT(G/T)CTGTA intron-variant
rs1000026704 -- 68,840,954(+) TGCAG(C/T)TCTTT intron-variant

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)

Relevant External Links for PIP5K1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIP5K1B

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

Disorders for PIP5K1B Gene

Relevant External Links for PIP5K1B

Genetic Association Database (GAD)
PIP5K1B
Human Genome Epidemiology (HuGE) Navigator
PIP5K1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIP5K1B

No disorders were found for PIP5K1B Gene.

No data available for MalaCards , 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 M.A. … Chamberlain S. (Genomics 1997) 2 3 4 22 64
  2. The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. (PMID: 8841185) Carvajal J.J. … Chamberlain S. (Nat. Genet. 1996) 2 3 4 22 64
  3. Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family. (PMID: 8955136) Loijens J.C. … Anderson R.A. (J. Biol. Chem. 1996) 3 4 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3 46 64

Products for PIP5K1B Gene

Sources for PIP5K1B Gene

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