| Name | telomere repeat binding bouquet formation protein 1 |
| Description | Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe meiotic telomere complex—comprised of MAJIN, TERB1, and TERB2—is essential for proper chromosome behavior during meiosis. Structural investigations have revealed that TERB1, in complex with TERB2, functions as a critical adaptor linking telomeric DNA to the inner nuclear envelope. This assembly helps to form a mature attachment plate that not only secures telomeres but also facilitates the transmission of forces from the cytoskeleton via the LINC complex, thereby driving rapid chromosome movements necessary for homologous pairing, synapsis, and successful recombination."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n \nIn parallel high-resolution studies, the crystal structure of the human TERB1-TERB2 subcomplex provided molecular-level insights into how TERB1 mediates the stable attachment of telomeres to the nuclear envelope. Disruption of the TERB1-TERB2 interaction has been shown in mouse models to abolish telomere tethering and precipitate aberrant homologous pairing and disordered synapsis during meiotic prophase I, underscoring TERB1’s indispensable role in maintaining the structural framework of meiotic chromosome dynamics."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n \nComplementary clinical studies have further implicated TERB1 in fertility. For example, genetic analysis in men with non‐obstructive azoospermia has uncovered rare, likely damaging variants in TERB1, in addition to mutations in other members of the telomere complex. Such variants are associated with germ cell maturation arrest, emphasizing that proper TERB1 function is crucial for meiosis and spermatogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "James M Dunce, Amy E Milburn, Manickam Gurusaran, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-018-07794-7"}], "href": "https://doi.org/10.1038/s41467-018-07794-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30559341"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30559341"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yan Wang, Yanyan Chen, Juan Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-019-08437-1"}], "href": "https://doi.org/10.1038/s41467-019-08437-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30718482"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30718482"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Albert Salas-Huetos, Frank Tüttelmann, Margot J Wyrwoll, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-020-02236-1"}], "href": "https://doi.org/10.1007/s00439-020-02236-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33211200"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33211200"}]}]}]}
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| NCBI Gene ID | 283847 |
| 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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TERB1 has 1,060 functional associations with biological entities spanning 6 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 19 datasets.
Click the + buttons to view associations for TERB1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TERB1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with TERB1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of TERB1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing TERB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with TERB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with TERB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving TERB1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing TERB1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of TERB1 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of TERB1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by TERB1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of TERB1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of TERB1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| Kinase Library Tyrosine Kinome Atlas | kinases that phosphorylate TERB1 protein from the Kinase Library Tyrosine Kinome Atlas dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of TERB1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of TERB1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of TERB1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TERB1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with TERB1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |