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

Summary

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, Oct 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
[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].
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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

D1S3340 (e-PCR)
- UniSTS:14320

A005Z14 (e-PCR)
- UniSTS:9723

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)

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
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
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
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