| Name | TBC1 domain family, member 3H |
| Description | Predicted to enable GTPase activator activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nAlthough none of the provided abstracts directly investigate TBC1D3H, an evaluation of their findings allows us to speculate on its potential role. Proteins in the TBC1 domain family typically act as GTPase‐activating proteins for Rab GTPases, thus modulating vesicular trafficking and intracellular signaling. In the context of adipocyte function and energy metabolism, several studies have highlighted key regulatory pathways that could intersect with the activity of TBC1D3H. For example, de novo lipogenesis and PPARγ activation—central processes in adipocyte differentiation and lipid storage—are controlled by enzymes such as fatty acid synthase and PexRAP, thereby influencing adiposity and energy expenditure."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " \n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nOther studies have emphasized the contribution of small GTPases in metabolic regulation. One report demonstrated that Rab4b, which governs endocytic trafficking in T cells, is downregulated in obesity, altering adipose tissue inflammation and insulin sensitivity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " A related investigation further delineated how regulators of peroxisomal lipid synthesis, such as PexRAP, can influence the balance between white and brown adipocyte gene programs, thereby modulating systemic energy homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, the importance of Rab GTPases in metabolic tissue function is underscored by findings that link decreased Rab4b expression with impaired GLUT4 trafficking and subsequent insulin resistance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Given that TBC1D3H belongs to the TBC1 family—proteins known to inactivate Rab GTPases—it is plausible to propose that TBC1D3H might similarly influence intracellular trafficking events that impact adipogenesis, lipid metabolism, and insulin signaling. Further focused research will be essential to delineate the specific mechanisms by which TBC1D3H could intersect with these pathways and potentially contribute to metabolic homeostasis.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Irfan J Lodhi, Li Yin, Anne P L Jensen-Urstad, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inhibiting adipose tissue lipogenesis reprograms thermogenesis and PPARγ activation to decrease diet-induced obesity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2012.06.013"}], "href": "https://doi.org/10.1016/j.cmet.2012.06.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22863804"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22863804"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jérôme Gilleron, Gwennaëlle Bouget, Stoyan Ivanov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rab4b Deficiency in T Cells Promotes Adipose Treg/Th17 Imbalance, Adipose Tissue Dysfunction, and Insulin Resistance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2018.11.083"}], "href": "https://doi.org/10.1016/j.celrep.2018.11.083"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30566860"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30566860"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Irfan J Lodhi, John M Dean, Anyuan He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PexRAP Inhibits PRDM16-Mediated Thermogenic Gene Expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2017.08.077"}], "href": "https://doi.org/10.1016/j.celrep.2017.08.077"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28930673"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28930673"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Vincent Kaddai, Teresa Gonzalez, Frédérique Keslair, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rab4b is a small GTPase involved in the control of the glucose transporter GLUT4 localization in adipocyte."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0005257"}], "href": "https://doi.org/10.1371/journal.pone.0005257"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19590752"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19590752"}]}]}]}
|
| Proteins | TBC3H_HUMAN |
| NCBI Gene ID | 729877 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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TBC1D3H has 1,134 functional associations with biological entities spanning 7 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 32 datasets.
Click the + buttons to view associations for TBC1D3H from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of TBC1D3H gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of TBC1D3H 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 TBC1D3H gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing TBC1D3H protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of TBC1D3H gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with TBC1D3H gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with TBC1D3H gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of TBC1D3H gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of TBC1D3H gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of TBC1D3H gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of TBC1D3H gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving TBC1D3H gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving TBC1D3H gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing TBC1D3H protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by TBC1D3H gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by TBC1D3H gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of TBC1D3H gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of TBC1D3H gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TBC1D3H gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of TBC1D3H gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of TBC1D3H gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TBC1D3H gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for TBC1D3H protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of TBC1D3H gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of TBC1D3H gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of TBC1D3H gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TBC1D3H gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of TBC1D3H gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of TBC1D3H gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of TBC1D3H gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of TBC1D3H protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| WikiPathways Pathways 2024 | pathways involving TBC1D3H protein from the WikiPathways Pathways 2024 dataset. | |