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    PLEKHO1 pleckstrin homology domain containing O1 [ Homo sapiens (human) ]

    Gene ID: 51177, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PLEKHO1provided by HGNC
    Official Full Name
    pleckstrin homology domain containing O1provided by HGNC
    Primary source
    HGNC:HGNC:24310
    See related
    Ensembl:ENSG00000023902 MIM:608335; AllianceGenome:HGNC:24310
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JBP; CKIP1; OC120; CKIP-1
    Summary
    Predicted to be involved in regulation of myoblast fusion. Predicted to act upstream of or within several processes, including lamellipodium morphogenesis; myoblast fusion; and myoblast migration. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in muscle cell projection membrane and ruffle membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 30.7), appendix (RPKM 29.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHO1 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150149646..150160065)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149274323..149284749)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150121836..150132260)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OTU deubiquitinase 7B Neighboring gene uncharacterized LOC124904413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1669 Neighboring gene ribosomal protein L6 pseudogene 31 Neighboring gene vacuolar protein sorting 45 homolog Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150122046-150122546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150131051-150131552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1297 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1673 Neighboring gene long intergenic non-protein coding RNA 2988 Neighboring gene Sharpr-MPRA regulatory region 9169 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8432 Neighboring gene RNA, 7SL, cytoplasmic 480, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CKIP-1 silencing suppresses OSCC via mitochondrial homeostasis-associated TFAM/cGAS-STING signalling axis. Xie JR, et al. J Cell Mol Med, 2024 Aug. PMID 39169452, Free PMC Article
    2. The Pleckstrin homology domain of CK2 interacting protein-1 is required for interactions and recruitment of protein kinase CK2 to the plasma membrane. Olsten ME, et al. J Biol Chem, 2004 Oct 1. PMID 15254037
    3. 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. Canton DA, et al. Mol Cell Biol, 2005 May. PMID 15831458, Free PMC Article
    4. N-terminal PH domain and C-terminal auto-inhibitory region of CKIP-1 coordinate to determine its nucleus-plasma membrane shuttling. Xi S, et al. FEBS Lett, 2010 Mar 19. PMID 20171213
    5. CKIP-1: a scaffold protein and potential therapeutic target integrating multiple signaling pathways and physiological functions. Nie J, et al. Ageing Res Rev, 2013 Jan. PMID 22878216

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CKIP-1 silencing suppresses OSCC via mitochondrial homeostasis-associated TFAM/cGAS-STING signalling axis.
      Title: CKIP-1 silencing suppresses OSCC via mitochondrial homeostasis-associated TFAM/cGAS-STING signalling axis.
    2. Associations of CKIP-1 and LOX-1 polymorphisms with the risk of type 2 diabetes mellitus with hypertension among Chinese adults.
      Title: Associations of CKIP-1 and LOX-1 polymorphisms with the risk of type 2 diabetes mellitus with hypertension among Chinese adults.
    3. CKIP-1 Promotes P. gingivalis-Induced Inflammation of Periodontal Soft Tissues by Inhibiting Autophagy.
      Title: CKIP-1 Promotes P. gingivalis-Induced Inflammation of Periodontal Soft Tissues by Inhibiting Autophagy.
    4. [Effect of CKIP-1 on hepatocyte apoptosis in nonalcoholic fatty liver disease].
      Title: [Effect of CKIP-1 on hepatocyte apoptosis in nonalcoholic fatty liver disease].
    5. High expression of the CKIP-1 gene might promote apoptosis through downregulation of the Ras/ERK signalling pathway in the intestinal type of gastric cancer.
      Title: High expression of the CKIP-1 gene might promote apoptosis through downregulation of the Ras/ERK signalling pathway in the intestinal type of gastric cancer.
    6. CKIP-1 could interact with Neuropilin-1 (NRP1).
      Title: CKIP-1 suppresses odontoblastic differentiation of dental pulp stem cells via BMP2 pathway and can interact with NRP1.
    7. The molecular functions of CKIP-1 in cell morphology, cell differentiation and cell apoptosis, the involved biological processes including bone formation, tumorigenesis and immune regulation are REVIEWED. The potential role of CKIP-1 in the treatment of human diseases such as osteoporosis, tumor, and atherosclerosis is indicated.
      Title: Physiological functions of CKIP-1: From molecular mechanisms to therapy implications.
    8. mechanistic investigations suggested that CKIP-1 sharply suppressed the activity of AKT by inhibiting the phosphorylation, markedly downregulated the phosphorylated GSK3beta at Ser9, and promoted beta-catenin degradation.
      Title: Casein Kinase 2 Interacting Protein-1 Suppresses Glioma Cell Proliferation via Regulating the AKT/GSK3β/β-Catenin Pathway.
    9. The results showed that PLEKHO1 knockdown significantly inhibited cell viability and facilitated apoptosis in vitro and impaired tumour formation in vivo.
      Title: PLEKHO1 knockdown inhibits RCC cell viability in vitro and in vivo, potentially by the Hippo and MAPK/JNK pathways.
    10. we firstly revealed the association of CKIP-1 rs2306235 polymorphism with an increased risk of CHF in Chinese Han populations.
      Title: Association of CKIP-1 P21A polymorphism with risk of chronic heart failure in a Chinese population.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lamellipodium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myoblast migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of myoblast fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in muscle cell projection membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in ruffle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family O member 1
    Names
    C-Jun-binding protein
    CK2 interacting protein 1; HQ0024c protein
    CK2-interacting protein 1
    PH domain-containing family O member 1
    casein kinase 2-interacting protein 1
    osteoclast maturation-associated gene 120 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001304722.2 → NP_001291651.1  pleckstrin homology domain-containing family O member 1 isoform b

      See identical proteins and their annotated locations for NP_001291651.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon in place of that of variant 1, which causes translation initiation at a downstream AUG. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AF192912, AK025937, BX394578, DA604331
      UniProtKB/Swiss-Prot
      Q53GL0

    2. NM_001304723.2 → NP_001291652.1  pleckstrin homology domain-containing family O member 1 isoform b

      See identical proteins and their annotated locations for NP_001291652.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks the first exon and retains intronic sequence at the 5' end compared to variant 1, which causes translation initiation at a downstream AUG. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AF192912, AK025937, BP329810, DB023901
      UniProtKB/Swiss-Prot
      Q53GL0

    3. NM_001304724.2 → NP_001291653.1  pleckstrin homology domain-containing family O member 1 isoform c

      See identical proteins and their annotated locations for NP_001291653.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate 3' exon and uses an alternate first exon in place of that of variant 1, which causes translation initiation at a downstream AUG. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AK025937, BC023533
      Consensus CDS
      CCDS76210.1
      UniProtKB/TrEMBL
      Q5T4P9
      Related
      ENSP00000358122.1, ENST00000369126.5

    4. NM_016274.6 → NP_057358.2  pleckstrin homology domain-containing family O member 1 isoform a

      See identical proteins and their annotated locations for NP_057358.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF192912, AK025937, HY006501
      Consensus CDS
      CCDS945.1
      UniProtKB/Swiss-Prot
      Q336K5, Q53GL0, Q8IZ51, Q9NRV3, Q9UL48
      UniProtKB/TrEMBL
      B4DY45
      Related
      ENSP00000358120.4, ENST00000369124.5
      Conserved Domains (1) summary
      cd13317
      Location:18 → 127
      PH_PLEKHO1_PLEKHO2; Pleckstrin homology domain-containing family O Pleckstrin homology domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      150149646..150160065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      149274323..149284749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53GL0.2 GenPept UniProtKB/Swiss-Prot:Q53GL0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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