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Aliases for PLEKHO1 Gene

Aliases for PLEKHO1 Gene

  • Pleckstrin Homology Domain Containing O1 2 3 5
  • Osteoclast Maturation-Associated Gene 120 Protein 3 4
  • PH Domain-Containing Family O Member 1 3 4
  • Casein Kinase 2-Interacting Protein 1 3 4
  • CK2-Interacting Protein 1 3 4
  • C-Jun-Binding Protein 3 4
  • CKIP-1 3 4
  • CKIP1 3 4
  • OC120 3 4
  • JBP 3 4
  • Pleckstrin Homology Domain Containing, Family O Member 1 2
  • Pleckstrin Homology Domain-Containing Family O Member 1 3
  • CK2 Interacting Protein 1; HQ0024c Protein 3

External Ids for PLEKHO1 Gene

Previous GeneCards Identifiers for PLEKHO1 Gene

  • GC01P146935
  • GC01P148388
  • GC01P121502

Summaries for PLEKHO1 Gene

GeneCards Summary for PLEKHO1 Gene

PLEKHO1 (Pleckstrin Homology Domain Containing O1) is a Protein Coding gene. Diseases associated with PLEKHO1 include Colonic Benign Neoplasm. An important paralog of this gene is PLEKHO2.

UniProtKB/Swiss-Prot for PLEKHO1 Gene

  • Plays a role in the regulation of the actin cytoskeleton through its interactions with actin capping protein (CP). May function to target CK2 to the plasma membrane thereby serving as an adapter to facilitate the phosphorylation of CP by protein kinase 2 (CK2). Appears to target ATM to the plasma membrane. Appears to also inhibit tumor cell growth by inhibiting AKT-mediated cell-survival. Also implicated in PI3K-regulated muscle differentiation, the regulation of AP-1 activity (plasma membrane bound AP-1 regulator that translocates to the nucleus) and the promotion of apoptosis induced by tumor necrosis factor TNF. When bound to PKB, it inhibits it probably by decreasing PKB level of phosphorylation.

Gene Wiki entry for PLEKHO1 Gene

Additional gene information for PLEKHO1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHO1 Gene

Genomics for PLEKHO1 Gene

GeneHancer (GH) Regulatory Elements for PLEKHO1 Gene

Promoters and enhancers for PLEKHO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J150148 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 656.2 +3.2 3228 7.8 PKNOX1 ATF1 SIN3A IRF4 GLIS2 FOS ATF7 RUNX3 REST GLIS1 PLEKHO1 RPRD2 SEMA6C MTMR11 LOC102723955 LOC105371433 GC01P150114
GH01J150065 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.6 -82.2 -82220 3.8 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A GC01M150063 LOC105371427 VPS45 OTUD7B PRPF3 SETDB1 ARNT SF3B4 UBE2D3P3 HIST2H2AB
GH01J150156 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +12.7 12749 10.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B YBX1 IRF4 POLR2B ZNF766 LOC105371433 PLEKHO1 SV2A MTMR11 CA14 MCL1 PRPF3 MRPS21 ANP32E RPRD2
GH01J150213 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.8 +64.7 64658 1.5 PKNOX1 CLOCK SIN3A YY1 ELK1 ZNF207 ZNF143 RUNX3 RXRA NFYC GC01P150214 GC01P150215 SETDB1 SF3B4 ANP32E PIP5K1A PRPF3 RNU2-17P ARNT HIST2H2AB
GH01J150185 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +37.7 37687 2.3 PKNOX1 ATF1 FOXA2 YY1 GTF3C2 ZNF121 ZFP91 ATF7 RXRA ZNF592 SETDB1 PRPF3 GOLPH3L SF3B4 UBE2D3P3 ARNT APH1A HIST2H2AB RPRD2 ENSG00000253047
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEKHO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHO1 gene promoter:

Genomic Locations for PLEKHO1 Gene

Genomic Locations for PLEKHO1 Gene
chr1:150,149,183-150,164,720
(GRCh38/hg38)
Size:
15,538 bases
Orientation:
Plus strand
chr1:150,121,373-150,136,916
(GRCh37/hg19)

Genomic View for PLEKHO1 Gene

Genes around PLEKHO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHO1 Gene

Proteins for PLEKHO1 Gene

  • Protein details for PLEKHO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53GL0-PKHO1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family O member 1
    Protein Accession:
    Q53GL0
    Secondary Accessions:
    • Q336K5
    • Q8IZ51
    • Q9NRV3
    • Q9UL48

    Protein attributes for PLEKHO1 Gene

    Size:
    409 amino acids
    Molecular mass:
    46237 Da
    Quaternary structure:
    • Heterodimer or homodimer. Interacts with CK2 and actin capping subunits (capping protein CP-alpha and CP-beta). CKIP1 and CK2 together inhibit the activity of actin capping protein at the barbed ends of actin filaments. Interacts with ATM, IFP35, JUN, JUND, NMI and PI3K. Interacts with AKT1, AKT2 and AKT3 (each isozyme of PKB), PtdIns(3,5)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P2.
    SequenceCaution:
    • Sequence=AAF13461.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ13826.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLEKHO1 Gene

    Alternative splice isoforms for PLEKHO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHO1 Gene

Post-translational modifications for PLEKHO1 Gene

  • C-terminal fragments could be released during apoptosis via caspase-3-dependent cleavage.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHO1 Gene

No data available for DME Specific Peptides for PLEKHO1 Gene

Domains & Families for PLEKHO1 Gene

Gene Families for PLEKHO1 Gene

Protein Domains for PLEKHO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PLEKHO1: view

No data available for UniProtKB/Swiss-Prot for PLEKHO1 Gene

Function for PLEKHO1 Gene

Molecular function for PLEKHO1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of the actin cytoskeleton through its interactions with actin capping protein (CP). May function to target CK2 to the plasma membrane thereby serving as an adapter to facilitate the phosphorylation of CP by protein kinase 2 (CK2). Appears to target ATM to the plasma membrane. Appears to also inhibit tumor cell growth by inhibiting AKT-mediated cell-survival. Also implicated in PI3K-regulated muscle differentiation, the regulation of AP-1 activity (plasma membrane bound AP-1 regulator that translocates to the nucleus) and the promotion of apoptosis induced by tumor necrosis factor TNF. When bound to PKB, it inhibits it probably by decreasing PKB level of phosphorylation.
UniProtKB/Swiss-Prot Induction:
Up-regulated by IFNG/IFN-gamma and IL2/interleukin-2 or in C2C12 cells.

Phenotypes From GWAS Catalog for PLEKHO1 Gene

Gene Ontology (GO) - Molecular Function for PLEKHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20580715
genes like me logo Genes that share ontologies with PLEKHO1: view
genes like me logo Genes that share phenotypes with PLEKHO1: view

Animal Models for PLEKHO1 Gene

MGI Knock Outs for PLEKHO1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHO1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLEKHO1 Gene

Localization for PLEKHO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHO1 Gene

Cell membrane; Peripheral membrane protein. Nucleus. Cytoplasm. Note=Predominantly localized to the plasma membrane through the binding to phosphatidylinositol 3-phosphate (PubMed:14729969). In C2C12 cells, with the absence of growth factor, it is found in the nucleus (PubMed:14729969). It rapidly translocates to the plasma membrane after insulin stimulation (PubMed:14729969). In response to TNF, it translocates from the plasma membrane to the cytoplasm and then to the nucleus accompanied by cleavage by caspase-3 (PubMed:15706351). However, the subcellular location is highly dependent of the cell type, and this explains why it is found exclusively at the plasma membrane, in some type of cells (Probable). {ECO:0000269 PubMed:14729969, ECO:0000269 PubMed:15706351, ECO:0000305}.

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 PLEKHO1 gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 2
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLEKHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0032587 ruffle membrane IEA --
genes like me logo Genes that share ontologies with PLEKHO1: view

Pathways & Interactions for PLEKHO1 Gene

SuperPathways for PLEKHO1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007520 myoblast fusion IEA --
GO:0008360 regulation of cell shape IEA --
GO:0051451 myoblast migration IEA --
GO:0072673 lamellipodium morphogenesis IEA --
genes like me logo Genes that share ontologies with PLEKHO1: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHO1 Gene

Drugs & Compounds for PLEKHO1 Gene

No Compound Related Data Available

Transcripts for PLEKHO1 Gene

Unigene Clusters for PLEKHO1 Gene

Pleckstrin homology domain containing, family O member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHO1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHO1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - -
SP7: - -
SP8:
SP9:

Relevant External Links for PLEKHO1 Gene

GeneLoc Exon Structure for
PLEKHO1
ECgene alternative splicing isoforms for
PLEKHO1

Expression for PLEKHO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLEKHO1 Gene

This gene is overexpressed in Colon - Sigmoid (x4.6).

Protein differential expression in normal tissues from HIPED for PLEKHO1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.8), Blymphocyte (10.5), Fetal Brain (8.9), and Fetal gut (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLEKHO1 Gene



Protein tissue co-expression partners for PLEKHO1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHO1 Gene:

PLEKHO1

SOURCE GeneReport for Unigene cluster for PLEKHO1 Gene:

Hs.438824

mRNA Expression by UniProt/SwissProt for PLEKHO1 Gene:

Q53GL0-PKHO1_HUMAN
Tissue specificity: Abundantly expressed in skeletal muscle and heart, moderately in kidney, liver, brain and placenta and sparingly in the pancreas and lung. Easily detectable in cell lines such as MOLT-4, HEK293 and Jurkat.

Evidence on tissue expression from TISSUES for PLEKHO1 Gene

  • Lymph node(4.4)
  • Muscle(4.4)
  • Kidney(4.2)
  • Liver(4.2)
  • Nervous system(3.5)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with PLEKHO1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHO1 Gene

Orthologs for PLEKHO1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEKHO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHO1 34 33
  • 99.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHO1 34 33
  • 92.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHO1 34 33
  • 88.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plekho1 16 34 33
  • 88.34 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHO1 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekho1 33
  • 87.42 (n)
chicken
(Gallus gallus)
Aves PLEKHO1 34 33
  • 74.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHO1 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekho1 33
  • 68.87 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC562940 33
  • 64.31 (n)
plekho1b 34
  • 58 (a)
OneToMany
plekho1a 34
  • 36 (a)
OneToMany
Dr.29665 33
Species where no ortholog for PLEKHO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHO1 Gene

ENSEMBL:
Gene Tree for PLEKHO1 (if available)
TreeFam:
Gene Tree for PLEKHO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHO1: view image

Paralogs for PLEKHO1 Gene

Paralogs for PLEKHO1 Gene

genes like me logo Genes that share paralogs with PLEKHO1: view

Variants for PLEKHO1 Gene

Sequence variations from dbSNP and Humsavar for PLEKHO1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000077007 -- 150,153,758(+) G/A intron_variant
rs1000281247 -- 150,153,491(+) G/A intron_variant
rs1000892977 -- 150,152,390(+) C/T intron_variant
rs1000946285 -- 150,158,494(+) T/C intron_variant
rs1001491082 -- 150,152,703(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHO1 Gene

Variant ID Type Subtype PubMed ID
nsv1078943 CNV deletion 25765185
nsv1143465 CNV deletion 24896259

Variation tolerance for PLEKHO1 Gene

Residual Variation Intolerance Score: 61.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.07; 50.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHO1 Gene

Disorders for PLEKHO1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHO1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
colonic benign neoplasm
  • colon neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHO1

genes like me logo Genes that share disorders with PLEKHO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHO1 Gene

Publications for PLEKHO1 Gene

  1. The PH domain containing protein CKIP-1 binds to IFP35 and Nmi and is involved in cytokine signaling. (PMID: 17197158) Zhang L … He F (Cellular signalling 2007) 3 4 22 58
  2. The pleckstrin homology domain-containing protein CKIP-1 is involved in regulation of cell morphology and the actin cytoskeleton and interaction with actin capping protein. (PMID: 15831458) Canton DA … Litchfield DW (Molecular and cellular biology 2005) 3 4 22 58
  3. The Pleckstrin homology domain of CK2 interacting protein-1 is required for interactions and recruitment of protein kinase CK2 to the plasma membrane. (PMID: 15254037) Olsten ME … Litchfield DW (The Journal of biological chemistry 2004) 3 4 22 58
  4. Identification and characterization of CKIP-1, a novel pleckstrin homology domain-containing protein that interacts with protein kinase CK2. (PMID: 10799509) Bosc DG … Litchfield DW (The Journal of biological chemistry 2000) 2 3 4 58
  5. Casein kinase 2-interacting protein-1, a novel Akt pleckstrin homology domain-interacting protein, down-regulates PI3K/Akt signaling and suppresses tumor growth in vivo. (PMID: 17942896) Tokuda E … Tsuruo T (Cancer research 2007) 3 4 58

Products for PLEKHO1 Gene

Sources for PLEKHO1 Gene

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