RABEP1 Gene

Name	rabaptin, RAB GTPase binding effector protein 1
Description	Enables protein domain specific binding activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in endocytic vesicle and endosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRABEP1, also known as Rabaptin‐5, plays a central role in regulating early endosomal dynamics and membrane trafficking. It functions as an effector that links cargo transport from the trans‐Golgi network to endosomes, interacting with clathrin adaptor proteins such as the GGAs to facilitate tethering and fusion events (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Structural studies have further revealed that Rabaptin‐5 relieves the autoinhibition of its partner Rabex‐5—its guanine nucleotide exchange factor—by binding via coiled‐coil domains, thereby exposing the substrate‐binding site required for Rab5 activation and subsequent early endosomal fusion (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Moreover, RNA interference screens indicate that loss of RABEP1 slows the maturation of pathogen-containing vacuoles, highlighting its importance in endosomal development (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its essential role in endosome fusion, RABEP1 is subject to diverse regulatory mechanisms that extend its influence to receptor trafficking and cell migration. For example, proteomic analyses identified RABEP1 as a direct target of miR‐373, where translational inhibition rather than mRNA degradation downregulates its expression in breast cancer, linking it to metastatic progression (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In addition, phosphorylation events mediated by protein kinase D modulate RABEP1 function, affecting the recycling of ion channels such as K(V)10.1 and, consequently, influencing cell motility (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nRABEP1’s role is further refined by its interactions with other proteins that control its stability and endocytic function. Intersectin‐2Long, for instance, binds to RABEP1 and promotes its degradation, thereby antagonizing its capacity to enhance endosome aggregation and modulate endocytosis (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Genetic studies have also linked variants in RABEP1 with metabolic changes, such as lower fasting glucose levels, suggesting that its function may have broader physiological implications beyond vesicular trafficking (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Rafael Mattera, Cecilia N Arighi, Robert Lodge, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/emboj/cdg015"}], "href": "https://doi.org/10.1093/emboj/cdg015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12505986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12505986"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Zhe Zhang, Tianlong Zhang, Shanshan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular mechanism for Rabex-5 GEF activation by Rabaptin-5."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.02687"}], "href": "https://doi.org/10.7554/eLife.02687"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24957337"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24957337"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Simone Kälin, David T Hirschmann, Dominik P Buser, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rabaptin5 is recruited to endosomes by Rab4 and Rabex5 to regulate endosome maturation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.174664"}], "href": "https://doi.org/10.1242/jcs.174664"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26430212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26430212"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Laura S Burrack, J Wade Harper, Darren E Higgins "}, {"type": "b", "children": [{"type": "t", "text": "Perturbation of vacuolar maturation promotes listeriolysin O-independent vacuolar escape during Listeria monocytogenes infection of human cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Microbiol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1462-5822.2009.01338.x"}], "href": "https://doi.org/10.1111/j.1462-5822.2009.01338.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19500109"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19500109"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Guang-Rong Yan, Song-Hui Xu, Zi-Lu Tan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Global identification of miR-373-regulated genes in breast cancer by quantitative proteomics."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proteomics (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/pmic.201000539"}], "href": "https://doi.org/10.1002/pmic.201000539"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21271679"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21271679"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Milena Ninkovic, Mišo Mitkovski, Tobias Kohl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2012.07.055"}], "href": "https://doi.org/10.1016/j.febslet.2012.07.055"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22841712"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22841712"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Xiaoxu Yang, Feng Yan, Zhicheng He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ITSN2L Interacts with and Negatively Regulates RABEP1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms161226091"}], "href": "https://doi.org/10.3390/ijms161226091"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26633357"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26633357"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Aurélie Delacrétaz, Adna Zdralovic, Frederik Vandenberghe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2017.07.005"}], "href": "https://doi.org/10.1016/j.gene.2017.07.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28694205"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28694205"}]}]}]}
Synonyms	RABPT5, RAB5EP
Proteins	RABE1_HUMAN
NCBI Gene ID	9135
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

RABEP1 has 7,359 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 131 datasets.

Click the + buttons to view associations for RABEP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

RABEP1 Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by RABEP1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RABEP1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of RABEP1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse 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 RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of RABEP1 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 RABEP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with RABEP1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with RABEP1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with RABEP1 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 RABEP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of RABEP1 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 RABEP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing RABEP1 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 RABEP1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing RABEP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing RABEP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing RABEP1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with RABEP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with RABEP1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with RABEP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 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 RABEP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with RABEP1 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 RABEP1 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 RABEP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.