SPMIP3
Sperm Microtubule Inner Protein 3
Gene Information Card
| Symbol | SPMIP3 |
|---|---|
| Full Name | Sperm Microtubule Inner Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NKD9 |
| OMIM ID | 618731 |
| HGNC ID | 37298 |
| Aliases | C1orf192, MIA2 |
Description
SPMIP3 (Sperm Microtubule Inner Protein 3) is a protein-coding gene located on chromosome 1q21.3. It encodes a component of the sperm flagellum, specifically localized to the inner microtubule structures. The protein is involved in sperm motility and male fertility. Mutations in SPMIP3 have been associated with asthenozoospermia and multiple morphological abnormalities of the sperm flagella (MMAF).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthenozoospermia | Loss-of-function mutations impair sperm flagellar structure and motility | PMID: 31589614 |
| Multiple morphological abnormalities of the sperm flagella (MMAF) | Biallelic variants disrupt microtubule inner protein assembly | PMID: 31589614 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular cell lines | N/A | Detected in spermatogenic cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | rare | Loss of start codon, likely loss of function |
| c.287G>A (p.Arg96Gln) | missense | rare | Impaired protein stability |
| c.424C>T (p.Arg142*) | nonsense | rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated or absent protein, causing flagellar defects.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • sperm flagellum |
| • cilium assembly | • spermatogenesis |
Pathways
• Spermatogenesis
• Cilium assembly
Protein Summary
SPMIP3 encodes a 246-amino acid protein that localizes to the inner microtubule sheath of the sperm flagellum. It is essential for proper flagellar structure and sperm motility. The protein contains a coiled-coil domain and interacts with other microtubule-associated proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPMIP3 Knockout HEK293 Cell Line | EDJ-KQ4401 | Human | 200159 | Details Get a Quote |
| SPMIP3 Knockout HeLa Cell Line | EDJ-KQ58999 | Human | 200159 | Details Get a Quote |
| SPMIP3 Knockout A-549 Cell Line | EDJ-KQ67483 | Human | 200159 | Details Get a Quote |
| SPMIP3 Knockout HCT 116 Cell Line | EDJ-KQ75879 | Human | 200159 | Details Get a Quote |
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