TBC1D30 Gene

Name	TBC1 domain family, member 30
Description	Enables GTPase activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Located in ciliary basal body; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTBC1D30 appears to function as a regulator of vesicular trafficking events that are critical during spermiogenesis, particularly in the formation and maturation of the acrosome. In developing spermatids, acrosome biogenesis involves the coordinated delivery of proteins from the endoplasmic reticulum and Golgi apparatus to the nascent acrosomal vesicle—a process exemplified by the trafficking of the MN9 antigen, which moves through a distinct “Golgi‐head cap tract” to reach the acrosomal membranes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nA parallel can be drawn with other acrosome-associated factors. For instance, the acrosome formation associated factor Afaf is localized in both early endosomal compartments and the plasma membrane, suggesting a vesicle‐mediated delivery mechanism during the early stages of acrosome development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Moreover, studies on the acrosomal membrane protein equatorin (Eqtn) underscore the importance of precise vesicular targeting and membrane integration, not only in acrosome biogenesis but also in the subsequent acrosome reaction during fertilization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFurther, the progressive membrane remodeling observed during the acrosome reaction—with sequential stages marked by the redistribution and reduction in molecular mass of key proteins such as equatorin—highlights the role of tightly regulated vesicle fusion events."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " In this context, TBC1D30, as a member of the TBC-domain protein family known to act as a GTPase-activating protein for Rab GTPases, is well positioned to modulate the dynamics of vesicle docking and fusion. Its function is proposed to ensure that vesicular trafficking from the Golgi and endosomal systems is efficiently coordinated, thereby contributing to both the biogenesis of the acrosome and the execution of the acrosome reaction essential for successful fertilization."}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "K Toshimori, I Tanii, S Araki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the antigen recognized by a monoclonal antibody MN9: unique transport pathway to the equatorial segment of sperm head during spermiogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Tissue Res (1992)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/BF00645047"}], "href": "https://doi.org/10.1007/BF00645047"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "1486600"}], "href": "https://pubmed.ncbi.nlm.nih.gov/1486600"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yin-Chuan Li, Xiao-Qian Hu, Ke-Ying Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Afaf, a novel vesicle membrane protein, is related to acrosome formation in murine testis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2006.06.010"}], "href": "https://doi.org/10.1016/j.febslet.2006.06.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16831425"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16831425"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xiao-Qian Hu, Shao-Yang Ji, Yin-Chuan Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Acrosome formation-associated factor is involved in fertilization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Fertil Steril (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.fertnstert.2009.01.067"}], "href": "https://doi.org/10.1016/j.fertnstert.2009.01.067"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19285662"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19285662"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jianxiu Hao, Min Chen, Shaoyang Ji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Equatorin is not essential for acrosome biogenesis but is required for the acrosome reaction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2014.01.080"}], "href": "https://doi.org/10.1016/j.bbrc.2014.01.080"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24480441"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24480441"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Chizuru Ito, Kenji Yamatoya, Keiichi Yoshida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deletion of Eqtn in mice reduces male fertility and sperm-egg adhesion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Reproduction (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1530/REP-18-0394"}], "href": "https://doi.org/10.1530/REP-18-0394"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30328350"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30328350"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Keiichi Yoshida, Chizuru Ito, Kenji Yamatoya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A model of the acrosome reaction progression via the acrosomal membrane-anchored protein equatorin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Reproduction (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1530/REP-09-0434"}], "href": "https://doi.org/10.1530/REP-09-0434"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20032212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20032212"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Chizuru Ito, Kenji Yamatoya, Keiichi Yoshida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Integration of the mouse sperm fertilization-related protein equatorin into the acrosome during spermatogenesis as revealed by super-resolution and immunoelectron microscopy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Tissue Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00441-013-1605-y"}], "href": "https://doi.org/10.1007/s00441-013-1605-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23564009"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23564009"}]}]}]}
Proteins	TBC30_HUMAN
NCBI Gene ID	23329
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TBC1D30 has 4,696 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 104 datasets.

Click the + buttons to view associations for TBC1D30 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of TBC1D30 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 TBC1D30 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with TBC1D30 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 TBC1D30 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TBC1D30 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 TBC1D30 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 TBC1D30 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of TBC1D30 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TBC1D30 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TBC1D30 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 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 TBC1D30 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with TBC1D30 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with TBC1D30 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of TBC1D30 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 TBC1D30 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with TBC1D30 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 TBC1D30 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TBC1D30 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 TBC1D30 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 TBC1D30 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of TBC1D30 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 TBC1D30 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with TBC1D30 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing TBC1D30 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of TBC1D30 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of TBC1D30 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Kinase Perturbations	kinase perturbations changing expression of TBC1D30 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.