SPMIP5: Sperm Microtubule Inner Protein 5 – Gene Overview and Functional Insights
A comprehensive biomedical reference on SPMIP5, covering genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SPMIP5 |
|---|---|
| Full Name | Sperm Microtubule Inner Protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000288673 |
| UniProt ID | A0A1W2PRU5 |
| OMIM ID | Not available |
| HGNC ID | 53827 |
| Aliases | C10orf90, bA157L9.1 |
Description
SPMIP5 (Sperm Microtubule Inner Protein 5) is a protein-coding gene located on chromosome 10q26.13. It encodes a protein that is part of the sperm microtubule inner protein family, which is involved in the structural organization of the sperm flagellum and axoneme. The gene is expressed predominantly in testis and is implicated in sperm motility and male fertility. Mutations in SPMIP5 may contribute to asthenozoospermia or other sperm motility disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthenozoospermia | Mutations in SPMIP5 may disrupt microtubule inner protein function, leading to impaired sperm flagellar movement. | ClinVar: limited clinical significance; functional studies suggest role in sperm motility. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian Tube | 1.2 | Low |
| Skin | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| K562 | 0.3 | Low expression |
| Testis-derived cell lines | 10.2 | High expression (e.g., TCam-2) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Potential impact on protein stability; not yet linked to disease. |
| c.567delC (p.Leu190TrpfsTer5) | Frameshift | Rare | Predicted loss-of-function; may affect sperm motility. |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein likely result in loss of function, impairing microtubule inner protein assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects; SPMIP5 is likely haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • sperm flagellum |
| • axoneme | • cilium assembly |
Pathways
• Spermatogenesis
• Cilium assembly and function
Protein Summary
The SPMIP5 protein is a component of the sperm flagellar microtubule inner proteins, which are essential for the stability and function of the axoneme. It is localized to the inner side of microtubules in the sperm tail and is involved in the regulation of sperm motility. The protein contains conserved domains that interact with tubulin and other axonemal components. Its expression is highly enriched in testis, consistent with its role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPMIP5 Knockout HEK293 Cell Line | EDJ-KQ10366 | Human | 143379 | Details Get a Quote |
| SPMIP5 Knockout HeLa Cell Line | EDJ-KQ58484 | Human | 143379 | Details Get a Quote |
| SPMIP5 Knockout A-549 Cell Line | EDJ-KQ66973 | Human | 143379 | Details Get a Quote |
| SPMIP5 Knockout HCT 116 Cell Line | EDJ-KQ75372 | Human | 143379 | Details Get a Quote |
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