National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory
Protein Information |
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| Protein Name | Telomere repeats-binding bouquet formation protein 1 |
| Accession Code | Q8NA31 |
| Gene | TERB1 |
| Organism | Homo sapiens | Human (Taxonomy: 9606) |
| Part of Reference Proteome? | Yes |
| Sequence (Length: 727) |
Structure Viewer (PDB: 6J07) |
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Description |
Position in the Nuclear Envelope |
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| Location | Location ID | Description |
| Nuclear Envelope | SL-0178 | The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space. |
| Nuclear Inner Membrane | SL-0179 | The inner membrane of the nucleus is the membrane which separates the nuclear matrix from the intermembrane space. In mammals, the inner nuclear membrane is associated with heterochromatin and the nuclear lamina. |
| Nuclear Membrane | SL-0182 | The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane. | Membrane Topology |
| Topology | Source | Annotation Type |
| Unknown | UniProt | Sequence Analysis | Assigned Ontology terms |
Description |
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| Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1- TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment'. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity. {By SimilarityUniProtKB:Q8C0V1}. | Assigned Ontology terms |
Description |
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| Spermatogenic failure 60 (SPGF60) [MIM:619646]: An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to sperm maturation arrest before the pachytene stage. {Experimental EvidencePubMed:33211200}. Note=The disease is caused by variants affecting the gene represented in this entry. | Database Associations |
| OMIM | 617332 619646 |
| DisGeNET | |
Interactions with other proteins (1 interactors) |
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National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory