EHBP1L1 Gene

Name	EH domain binding protein 1-like 1
Description	Predicted to act upstream of or within several processes, including enucleation; erythrocyte differentiation; and mitochondrion localization. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n EHBP1L1 is a multifunctional protein that plays key roles in intracellular vesicle trafficking and membrane recycling across diverse tissues and cell types. In immune cells, EHBP1L1 participates in macropinocytosis by facilitating the formation of recycling tubules; its activity is tightly regulated by LRRK2‐mediated phosphorylation of Rab10, which functions to stall fast vesicle recycling and promote downstream signaling responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In polarized epithelial cells, EHBP1L1 acts as an adaptor that directly binds to GTP‐loaded Rab8 and Bin1, partnering with dynamin to generate membrane curvature and mediate apical protein transport. Loss of EHBP1L1 disrupts this process, resulting in the mis-sorting of apical proteins and consequent microvilli defects."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its involvement in vesicle trafficking, genetic studies have linked variants in EHBP1L1 with metabolic disorders such as nonalcoholic fatty liver disease (NAFLD)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", and proteomic studies have implicated EHBP1L1 as part of a TBC1D1-associated complex regulating insulin-stimulated GLUT4 trafficking in muscle cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Furthermore, EHBP1L1 exhibits tissue-specific expression in the testis where its transcripts and protein are detected predominantly in spermatocytes and spermatids. In these cells, EHBP1L1 likely contributes to vesicular transport events and actin cytoskeletal remodeling during acrosome biogenesis, with its dynamic localization suggesting a temporally restricted function during spermatogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, epigenetic profiling has revealed that methylation changes at the EHBP1L1 locus correlate with clinical outcomes in clear cell renal cell carcinoma, supporting a potential prognostic role for EHBP1L1 in cancer."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these studies underscore the diverse yet interconnected roles of EHBP1L1 – from orchestrating endosomal recycling processes to modulating cell-specific functions – highlighting its importance in both normal physiology and disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Zhiyong Liu, Enquan Xu, Hien Tran Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LRRK2 and Rab10 coordinate macropinocytosis to mediate immunological responses in phagocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.2020104862"}], "href": "https://doi.org/10.15252/embj.2020104862"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32853409"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32853409"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Atsuhiro Nakajo, Shin-ichiro Yoshimura, Hiroko Togawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201508086"}], "href": "https://doi.org/10.1083/jcb.201508086"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26833786"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26833786"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xiao-Rui Shang, Jie-Yun Song, Fang-Hong Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GWAS-Identified Common Variants With Nonalcoholic Fatty Liver Disease in Chinese Children."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pediatr Gastroenterol Nutr (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MPG.0000000000000662"}], "href": "https://doi.org/10.1097/MPG.0000000000000662"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25522307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25522307"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sharon C Hook, Alexandra Chadt, Kate J Heesom, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-020-74661-1"}], "href": "https://doi.org/10.1038/s41598-020-74661-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33087848"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33087848"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Massimo Venditti, Aldo Donizetti, Francesco Aniello, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EH domain binding protein 1-like 1 (EHBP1L1), a protein with calponin homology domain, is expressed in the rat testis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zygote (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1017/S0967199420000301"}], "href": "https://doi.org/10.1017/S0967199420000301"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32795384"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32795384"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Massimo Venditti, Sergio Minucci "}, {"type": "b", "children": [{"type": "t", "text": "Differential Expression and Localization of EHBP1L1 during the First Wave of Rat Spermatogenesis Suggest Its Involvement in Acrosome Biogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomedicines (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/biomedicines10010181"}], "href": "https://doi.org/10.3390/biomedicines10010181"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35052860"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35052860"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jin-Huan Wei, Ahmed Haddad, Kai-Jie Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A CpG-methylation-based assay to predict survival in clear cell renal cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms9699"}], "href": "https://doi.org/10.1038/ncomms9699"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26515236"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26515236"}]}]}]}
Proteins	EH1L1_HUMAN
NCBI Gene ID	254102
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

EHBP1L1 has 6,498 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 113 datasets.

Click the + buttons to view associations for EHBP1L1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

EHBP1L1 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 EHBP1L1 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 EHBP1L1 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 RNA-seq	tissue samples with high or low expression of EHBP1L1 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 EHBP1L1 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 EHBP1L1 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 EHBP1L1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of EHBP1L1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of EHBP1L1 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 EHBP1L1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with EHBP1L1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with EHBP1L1 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 EHBP1L1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of EHBP1L1 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 EHBP1L1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of EHBP1L1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing EHBP1L1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of EHBP1L1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing EHBP1L1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing EHBP1L1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing EHBP1L1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with EHBP1L1 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 EHBP1L1 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 EHBP1L1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with EHBP1L1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with EHBP1L1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with EHBP1L1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with EHBP1L1 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 EHBP1L1 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 EHBP1L1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with EHBP1L1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with EHBP1L1 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 EHBP1L1 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 EHBP1L1 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 EHBP1L1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with EHBP1L1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at EHBP1L1 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 EHBP1L1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of EHBP1L1 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 EHBP1L1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with EHBP1L1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.