PLEKHB1 Gene

HGNC Family	Pleckstrin homology domain containing (PLEKH)
Name	pleckstrin homology domain containing, family B (evectins) member 1
Description	Predicted to enable protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent evidence highlights a critical role for pleckstrin homology (PH) domain‐containing proteins in neuronal integrity. In models of neurodegeneration, studies demonstrate that rapid axon degeneration (e.g., in Wallerian degeneration) depends on molecules such as PHR1, a protein that shares domain features with PLEKHB1. In parallel, genomic studies in attention‐deficit/hyperactivity disorder (ADHD) identified a brain‐specific PH domain‐containing protein—PLEKHB1—with an established function in primary sensory neurons; copy number variations affecting this gene were found in affected individuals, suggesting that altered PLEKHB1 dosage may contribute to neurodevelopmental and behavioral phenotypes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFurther insights into the function of PH domain‐containing proteins in the nervous system come from work characterizing Phr1 in the olfactory system. This research shows that Phr1, which is highly expressed in primary sensory neurons, encodes an integral membrane protein featuring an N‐terminal PH domain and a C‐terminal transmembrane region—properties that it shares with PLEKHB1, suggesting common roles in sensory signal modulation and membrane-associated signaling. Complementary studies have identified strong interactions between PH domain proteins and viral capsid proteins, implying that these molecules could modulate host–pathogen interactions in central nervous system disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition, although research on DNA damage and inflammatory pathways in Alzheimer’s disease does not directly address PLEKHB1, the work underscores the importance of neuronal regulatory networks in which PH domain‐containing proteins are likely to participate. Together, these findings suggest that PLEKHB1, along with its homologs, plays a multifaceted role in primary sensory neuron function, influencing processes from axonal degeneration and sensory circuit formation to potential responses during central nervous system infections and neuroinflammatory challenges."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Laura Conforti, Jonathan Gilley, Michael P Coleman "}, {"type": "b", "children": [{"type": "t", "text": "Wallerian degeneration: an emerging axon death pathway linking injury and disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Rev Neurosci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nrn3680"}], "href": "https://doi.org/10.1038/nrn3680"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24840802"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24840802"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "K-P Lesch, S Selch, T J Renner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2010.29"}], "href": "https://doi.org/10.1038/mp.2010.29"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20308990"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20308990"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Bruce Tan, David Brown, Shunbin Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Laryngoscope (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/lary.20779"}], "href": "https://doi.org/10.1002/lary.20779"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20301200"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20301200"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ying Zhou, Zhiqin Zhang, Hongluan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "In vitro interaction between coxsackievirus B3 VP1 protein and human pleckstrin homology domain retinal protein (PHR1)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Virus Genes (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11262-015-1241-6"}], "href": "https://doi.org/10.1007/s11262-015-1241-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26318175"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26318175"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Mula A, Yan Bai, Bingcheng Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MiR-669b-5p inhibits the Alzheimer's disease development via regulation of CHEK2 in Neuro2a APPSwe/Δ9 cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Biol (Noisy-le-grand) (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.14715/cmb/2023.69.9.17"}], "href": "https://doi.org/10.14715/cmb/2023.69.9.17"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37807326"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37807326"}]}]}]}
Synonyms	KPL1, PHR1, PHRET1
Proteins	PKHB1_HUMAN
NCBI Gene ID	58473
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PLEKHB1 has 6,023 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 103 datasets.

Click the + buttons to view associations for PLEKHB1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PLEKHB1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PLEKHB1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PLEKHB1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PLEKHB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PLEKHB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PLEKHB1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PLEKHB1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PLEKHB1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PLEKHB1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PLEKHB1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PLEKHB1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PLEKHB1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PLEKHB1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PLEKHB1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PLEKHB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PLEKHB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PLEKHB1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PLEKHB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PLEKHB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PLEKHB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PLEKHB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PLEKHB1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PLEKHB1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with PLEKHB1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PLEKHB1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PLEKHB1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PLEKHB1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PLEKHB1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PLEKHB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PLEKHB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PLEKHB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PLEKHB1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PLEKHB1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PLEKHB1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PLEKHB1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with PLEKHB1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with PLEKHB1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PLEKHB1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with PLEKHB1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing PLEKHB1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of PLEKHB1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.