SUN5: Sad1 and UNC84 Domain Containing 5
A key component of the nuclear envelope involved in spermatogenesis and head-to-tail coupling of spermatozoa.
Gene Information Card
| Symbol | SUN5 |
|---|---|
| Full Name | Sad1 and UNC84 Domain Containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000196419 |
| UniProt ID | Q8N0Z2 |
| OMIM ID | 613875 |
| HGNC ID | 33663 |
| Aliases | SPAG4L, dJ1181N3.1, SUN5a, SUN5b |
Description
SUN5 encodes a member of the SUN (Sad1p, UNC-84) domain-containing protein family, which localizes to the inner nuclear membrane. The protein is essential for tethering the acrosome to the nuclear envelope during spermatogenesis and for proper head-to-tail coupling in spermatozoa. Mutations in SUN5 cause acephalic spermatozoa syndrome and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acephalic spermatozoa syndrome | Loss of SUN5 disrupts head-tail coupling, leading to decapitated sperm | OMIM #618112; ClinVar |
| Male infertility with asthenozoospermia | Impaired sperm motility due to defective nuclear envelope integrity | ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 2.1 | Low |
| Skin | 1.0 | Low |
| Prostate | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Enriched in spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.892C>T (p.Arg298*) | Nonsense | Rare | Premature stop, loss of SUN domain |
| c.1040_1041del (p.Glu347Valfs*2) | Frameshift | Rare | Truncated protein, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Most reported SUN5 mutations are loss-of-function, leading to truncated or absent protein, causing acephalic spermatozoa syndrome.
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)
| • GO:0005635 (GO:0005635) | • GO:0005637 (GO:0005637) |
| • GO:0007283 (GO:0007283) | • GO:0035039 (GO:0035039) |
| • GO:0045121 (GO:0045121) |
Pathways
• Nuclear envelope organization
• Spermatid development
Protein Summary
SUN5 is a 382-amino acid inner nuclear membrane protein containing an N-terminal transmembrane domain and a C-terminal SUN domain. It interacts with KASH domain proteins to form LINC complexes that connect the nucleus to the cytoskeleton. In sperm, SUN5 is critical for anchoring the acrosome to the nuclear envelope and for the formation of the head-tail coupling apparatus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUN5 Knockout HEK293 Cell Line | EDJ-KQ9805 | Human | 140732 | Details Get a Quote |
| SUN5 Knockout HeLa Cell Line | EDJ-KQ58455 | Human | 140732 | Details Get a Quote |
| SUN5 Knockout A-549 Cell Line | EDJ-KQ66940 | Human | 140732 | Details Get a Quote |
| SUN5 Knockout HCT 116 Cell Line | EDJ-KQ75343 | Human | 140732 | Details Get a Quote |
