TSGA10IP
Testis Specific 10 Interacting Protein
Gene Information Card
| Symbol | TSGA10IP |
|---|---|
| Full Name | Testis Specific 10 Interacting Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 149465 ncbi.nlm.nih.gov/gene/149465 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | Q5T5A4 |
| OMIM ID | 617733 |
| HGNC ID | 28478 |
| Aliases | C11orf64, TSGA10IP1 |
Description
TSGA10IP (Testis Specific 10 Interacting Protein) is a protein-coding gene located on chromosome 11q13.1. It encodes a protein that interacts with TSGA10 and is involved in spermatogenesis and ciliary function. The gene is expressed in testis and other tissues, and its dysfunction has been linked to male infertility and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Disruption of TSGA10 interaction impairs spermatogenesis | PMID: 25954031 |
| Ciliopathy | Defective ciliary assembly due to altered TSGA10IP function | PMID: 25954031 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 2.1 | Low |
| Lung | 1.5 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.4 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg109* leads to premature truncation and loss of protein function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) |
Pathways
• Ciliopathy pathway
• Spermatogenesis
Protein Summary
The TSGA10IP protein is a 45 kDa cytoplasmic protein that interacts with TSGA10. It localizes to the cilium and is essential for ciliary assembly and sperm flagellum formation. Loss of function leads to impaired spermatogenesis and ciliary defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSGA10IP Knockout HEK293 Cell Line | EDJ-KQ11758 | Human | 254187 | Details Get a Quote |
| TSGA10IP Knockout HeLa Cell Line | EDJ-KQ59251 | Human | 254187 | Details Get a Quote |
| TSGA10IP Knockout A-549 Cell Line | EDJ-KQ67720 | Human | 254187 | Details Get a Quote |
| TSGA10IP Knockout HCT 116 Cell Line | EDJ-KQ76102 | Human | 254187 | Details Get a Quote |
