KASH5: A Key Meiotic Telomere Attachment Protein
Essential for homologous chromosome pairing and fertility
Gene Information Card
| Symbol | KASH5 |
|---|---|
| Full Name | KASH domain containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 80063 ncbi.nlm.nih.gov/gene/80063 |
| Ensembl ID | ENSG00000105675 |
| UniProt ID | Q8N7Z5 |
| OMIM ID | 617535 |
| HGNC ID | 26979 |
| Aliases | CCDC155, KASH5, SUN5 |
Description
KASH5 (KASH domain containing 5) encodes a nuclear envelope protein that localizes to the outer nuclear membrane. It is a component of the LINC (Linker of Nucleoskeleton and Cytoskeleton) complex, where it interacts with SUN1 and SUN2 to connect telomeres to the cytoskeleton during meiosis. This tethering is essential for homologous chromosome pairing, synapsis, and recombination. KASH5 is predominantly expressed in testis and is critical for male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 8 (SPGF8) | Loss-of-function mutations in KASH5 disrupt telomere attachment, leading to meiotic arrest and azoospermia. | OMIM #617535; PMID: 24706826 |
| Non-obstructive azoospermia | Biallelic KASH5 variants cause meiotic arrest at zygotene/pachytene stage. | PMID: 24706826 |
| Primary ovarian insufficiency (POI) | Homozygous KASH5 mutations reported in females with premature ovarian failure. | PMID: 24706826 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Ovary | 2.1 | Low |
| Spleen | 0.8 | Not detected |
| Brain | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 25.0 | Enriched in meiotic cells |
| HEK293 | 0.1 | Low expression |
| HeLa | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.715C>T (p.Arg239*) | Nonsense | Rare | Loss of function; truncation of KASH domain |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Impaired SUN1 binding |
| c.1234_1235del (p.Lys412Glufs*2) | Frameshift | Rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause meiotic arrest and infertility.
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)
Pathways
• Meiotic telomere attachment (LINC complex)
• Homologous recombination
Protein Summary
KASH5 is a 553-amino acid protein with an N-terminal coiled-coil domain and a C-terminal KASH domain that anchors it to the outer nuclear membrane. It forms a complex with SUN1/SUN2 at the inner nuclear membrane, bridging the nuclear envelope to connect telomeres to microtubules. This interaction is essential for telomere-led chromosome movement during meiotic prophase I, facilitating homologous pairing and recombination. KASH5 is testis-enriched and its loss leads to meiotic arrest and infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KASH5 Knockout HEK293 Cell Line | EDJ-KQ9975 | Human | 147872 | Details Get a Quote |
| KASH5 Knockout HeLa Cell Line | EDJ-KQ58589 | Human | 147872 | Details Get a Quote |
| KASH5 Knockout A-549 Cell Line | EDJ-KQ67076 | Human | 147872 | Details Get a Quote |
| KASH5 Knockout HCT 116 Cell Line | EDJ-KQ75480 | Human | 147872 | Details Get a Quote |
