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

Gene ID: 51177, updated on 2-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
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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 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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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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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.

Chemical Information
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