SPMIP4
Sperm Microtubule Inner Protein 4
Gene Information Card
| Symbol | SPMIP4 |
|---|---|
| Full Name | Sperm Microtubule Inner Protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000203727 |
| UniProt ID | A0A1B0GTV4 |
| OMIM ID | 618889 |
| HGNC ID | 53657 |
| Aliases | CFAP97D1, C1orf168 |
Description
SPMIP4 (Sperm Microtubule Inner Protein 4) is a protein-coding gene located on chromosome 1q21.3. It encodes a component of the sperm flagellum involved in microtubule inner structure and sperm motility. Mutations in SPMIP4 are associated with male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 48 | Loss-of-function mutations in SPMIP4 disrupt sperm flagellar inner microtubule structure, impairing motility. | ClinVar, OMIM |
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 |
|---|---|---|
| Sperm | N/A | Expressed in flagellum |
| Testis cell lines | N/A | Limited data |
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.325C>T (p.Arg109*) | nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in SPMIP4 cause loss of protein function, leading to sperm flagellar defects.
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)
| • microtubule inner protein | • sperm flagellum |
| • motile cilium |
Pathways
• Cilium assembly
• Spermatogenesis
Protein Summary
SPMIP4 is a 219-amino acid protein localized to the inner microtubule doublets of the sperm flagellum. It is essential for flagellar stability and sperm motility. Loss of SPMIP4 leads to disorganized axonemal structure and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPMIP4 Knockout HEK293 Cell Line | EDJ-KQ8625 | Human | 136895 | Details Get a Quote |
| SPMIP4 Knockout A-549 Cell Line | EDJ-KQ36032 | Human | 136895 | Details Get a Quote |
| SPMIP4 Knockout HCT 116 Cell Line | EDJ-KQ36034 | Human | 136895 | Details Get a Quote |
| SPMIP4 Knockout HeLa Cell Line | EDJ-KQ58369 | Human | 136895 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
