Aliases for PIP5K1B Gene

Aliases for PIP5K1B Gene

  • Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Beta 2 3 5
  • STM7 2 3 4
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Beta 3 4
  • 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 50
  • PIP5KIbeta 3 4
  • MSS4 2 3
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Beta 2
  • EC 2.7.1 50
  • PIP5K1B 5

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 2 and Friedreich Ataxia. Among its related pathways are RET signaling and Integrin Pathway. 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

  • 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 transduction, vesicle trafficking, actin cytoskeleton dynamics, cell adhesion, and cell motility (By similarity). PtdIns(4,5)P2 can directly act as a second messenger or can be utilized as a precursor to generate other second messengers: inositol 1,4,5-trisphosphate (IP3), diacylglycerol (DAG) or phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3/PIP3) (By similarity). Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of phospholipase PLD2. Together with PIP5K1A, is required, after stimulation by G-protein coupled receptors, for the synthesis of IP3 that will induce 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 , Rfam classification and piRNA Summary for PIP5K1B Gene

Genomics for PIP5K1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIP5K1B Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr9:68,705,240-69,009,176
(GRCh38/hg38)
Size:
303,937 bases
Orientation:
Plus strand

Previous Assembly
chr9:71,320,156-71,624,092
(GRCh37/hg19 by Entrez Gene)
Size:
303,937 bases
Orientation:
Plus strand

chr9:71,320,575-71,624,092
(GRCh37/hg19 by Ensembl)
Size:
303,518 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

Gene Families for PIP5K1B Gene

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

Protein Domains for PIP5K1B Gene

InterPro:
Blocks:
  • 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 2.7.1.68) (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:
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 transduction, vesicle trafficking, actin cytoskeleton dynamics, cell adhesion, and cell motility (By similarity). PtdIns(4,5)P2 can directly act as a second messenger or can be utilized as a precursor to generate other second messengers: inositol 1,4,5-trisphosphate (IP3), diacylglycerol (DAG) or phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3/PIP3) (By similarity). Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of phospholipase PLD2. Together with PIP5K1A, is required, after stimulation by G-protein coupled receptors, for the synthesis of IP3 that will induce stable platelet adhesion (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 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=2.7.1.68; Evidence={ECO:0000250|UniProtKB:P70181};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phospho-1D-myo-inositol 4-phosphate + ATP = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phospho-1D-myo-inositol 4,5-bisphosphate + ADP + H(+); Xref=Rhea:RHEA:40363, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77136, ChEBI:CHEBI:77137, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P70181};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phospho-1D-myo-inositol 4-phosphate + ATP = 1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phospho-1D-myo-inositol 4,5-bisphosphate + ADP + H(+); Xref=Rhea:RHEA:40367, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77139, ChEBI:CHEBI:77140, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P70181};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phospho-1D-myo-inositol + ATP = 1-octadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phospho-1D-myo-inositol 5-phosphate + ADP + H(+); Xref=Rhea:RHEA:40379, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77163, ChEBI:CHEBI:77164, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P70181};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phospho-1D-myo-inositol + ATP = 1-octadecanoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phospho-1D-myo-inositol 5-phosphate + ADP + H(+); Xref=Rhea:RHEA:40383, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77158, ChEBI:CHEBI:77159, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P70181};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phospho-1D-myo-inositol 5-phosphate + ADP + H(+); Xref=Rhea:RHEA:40375, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77160, ChEBI:CHEBI:133606, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P70181};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phospho-1D-myo-inositol + ATP = 1,2-di(9Z,12Z)-octadecadienoyl-sn-glycero-3-phospho-1D-myo-inositol 5-phosphate + ADP + H(+); Xref=Rhea:RHEA:40387, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77165, ChEBI:CHEBI:77167, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:P70181};.
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:0000166 nucleotide binding IEA --
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP5K1B

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

Cytoplasm, cytosol. Cell membrane. 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
plasma membrane 3
nucleus 2
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:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0012505 endomembrane system 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 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP5K1B

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

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:

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(4.6)
  • Kidney(4.4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PIP5K1B: view

Primer products for research

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 29 30
  • 99.51 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIP5K1B 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PIP5K1B 29 30
  • 92.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIP5K1B 29 30
  • 91.85 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PIP5K1B 30
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pip5k1b 29
  • 88.06 (n)
Mouse
(Mus musculus)
Mammalia Pip5k1b 29 16 30
  • 88 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PIP5K1B 29 30
  • 79.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PIP5K1B 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pip5k1b 29
  • 74.55 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398687 29
Zebrafish
(Danio rerio)
Actinopterygii pip5k1bb 29 30
  • 69.13 (n)
OneToMany
pip5k1ba 30
  • 67 (a)
OneToMany
Dr.14775 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13867 29
Fruit Fly
(Drosophila melanogaster)
Insecta sktl 30 31
  • 32 (a)
ManyToMany
PIP5K59B 30
  • 32 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ppk-1 30 31
  • 41 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSS4 30
  • 19 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os03g0262000 29
  • 48.62 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 64 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU02295 29
  • 45.97 (n)
Species where no ortholog for PIP5K1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PIP5K1B: view image
Alliance of Genome Resources:
Additional Orthologs for PIP5K1B

Paralogs for PIP5K1B Gene

Paralogs for PIP5K1B Gene

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

  • PI51B_HUMAN
  • B4DIG7_HUMAN
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
rs3750377 Benign: not provided 68,780,097(+) C/G
NM_138333.5(PABIR1):c.-68C>G
FIVE_PRIME_UTR_VARIANT,INTRON
rs55897616 -- p.Ala415Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIP5K1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
PIP5K1B
Leiden Open Variation Database (LOVD)
PIP5K1B

SNP Genotyping and Copy Number Assays for research

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

Disorders for PIP5K1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for PIP5K1B Gene - From: COP

Disorder Aliases PubMed IDs
friedreich ataxia 2
  • frda2
friedreich ataxia
  • frda
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PIP5K1B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 22
  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 22
  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 22
  4. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) Köttgen A … Fox CS (Nature genetics 2010) 3 40
  5. 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 40

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Sources for PIP5K1B Gene