TERB1: Telomere Repeat Binding Bouquet Formation Protein 1
Essential meiotic telomere protein for homologous chromosome pairing and synapsis
Gene Information Card
| Symbol | TERB1 |
|---|---|
| Full Name | Telomere Repeat Binding Bouquet Formation Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 107441054 ncbi.nlm.nih.gov/gene/107441054 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617780 |
| HGNC ID | 26964 |
| Aliases | C16orf73, FLJ32709, MGC16384 |
Description
TERB1 (Telomere Repeat Binding Bouquet Formation Protein 1) is a meiosis-specific telomere-associated protein that anchors telomeres to the nuclear envelope during prophase I. It is critical for telomere-led chromosome movement, bouquet formation, and homologous chromosome pairing. TERB1 interacts with TERB2 and MAJIN to form a complex that bridges telomeric chromatin to the inner nuclear membrane. Loss of TERB1 function leads to meiotic arrest, defective synapsis, and male infertility in humans and mice.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 62 (SPGF62) | Biallelic loss-of-function mutations in TERB1 disrupt meiotic telomere attachment, causing meiotic arrest and azoospermia. | OMIM #619583; PubMed: 31515469 |
| Non-obstructive azoospermia | TERB1 mutations impair homologous chromosome pairing and synapsis, leading to spermatogenic arrest at the zygotene/pachytene stage. | ClinVar; PubMed: 31515469 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.3 | Low |
| Ovary | 0.2 | Low |
| Prostate | 0.1 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | N/A | High expression during meiotic prophase I |
| Spermatogonia | N/A | Not expressed |
| Somatic cells | N/A | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | Rare | Loss of function; truncation of C-terminal domain |
| c.1429C>T (p.Arg477*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1687C>T (p.Arg563*) | Nonsense | Rare | Loss of function; truncation of coiled-coil region |
Mutation functional classification
Loss of Function (LOF)
Biallelic nonsense mutations cause complete loss of TERB1 protein, leading to meiotic arrest and azoospermia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • telomeric region (GO:0000781) | • nucleus (GO:0005634) |
| • nuclear envelope (GO:0005635) | • chromosome (GO:0005694) |
| • homologous chromosome pairing (GO:0007129) | • meiotic telomere clustering (GO:0007131) |
| • cell differentiation (GO:0030154) | • replication fork protection (GO:0048478) |
Pathways
• Meiotic telomere attachment to nuclear envelope
• Bouquet formation in meiotic prophase I
• Homologous recombination and synapsis
Protein Summary
TERB1 is a 674-amino acid protein with a coiled-coil domain and a C-terminal region that binds telomeric repeats. It localizes to telomeres during meiotic prophase I and anchors them to the nuclear envelope via interaction with SUN1 and KASH5. TERB1 is essential for telomere-led chromosome movement, bouquet formation, and homologous chromosome pairing. It is expressed exclusively in testis, specifically in spermatocytes. Loss of TERB1 causes meiotic arrest and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TERB1 Knockout HEK293 Cell Line | EDJ-KQ15685 | Human | 283847 | Details Get a Quote |
| TERB1 Knockout HeLa Cell Line | EDJ-KQ59414 | Human | 283847 | Details Get a Quote |
| TERB1 Knockout A-549 Cell Line | EDJ-KQ67882 | Human | 283847 | Details Get a Quote |
| TERB1 Knockout HCT 116 Cell Line | EDJ-KQ76262 | Human | 283847 | Details Get a Quote |
