SPEF1: Sperm Flagellar Protein 1
A gene encoding a protein essential for sperm flagellar structure and function, implicated in male infertility and ciliary disorders.
Gene Information Card
| Symbol | SPEF1 |
|---|---|
| Full Name | Sperm Flagellar Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 25876 ncbi.nlm.nih.gov/gene/25876 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y4P9 |
| OMIM ID | 610674 |
| HGNC ID | 26263 |
| Aliases | FLJ22604, MGC13170, SPEF1A, SPEF1B |
Description
SPEF1 (sperm flagellar protein 1) encodes a protein localized to the sperm flagellum and cilia. It is involved in flagellar assembly and motility, playing a critical role in male fertility. Mutations in SPEF1 are associated with primary ciliary dyskinesia and asthenozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss of SPEF1 disrupts ciliary axoneme structure, impairing mucociliary clearance | ClinVar, OMIM |
| Male infertility (asthenozoospermia) | Defective flagellar assembly reduces sperm motility | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 3.2 | Low |
| Lung | 2.1 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 1.5 | Low expression |
| HEK293 | 0.9 | Not detected |
| Sperm cells | 25.0 | High (specific) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Likely damaging |
| c.742_743del (p.Leu248fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing flagellar assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • cilium (GO:0005929) | • axoneme assembly (GO:0035082) |
| • epithelial cilium movement (GO:0003351) | • protein binding (GO:0005515) |
Pathways
• Ciliary motility
• Flagellar assembly
Protein Summary
SPEF1 is a 248-amino acid protein containing a coiled-coil domain and localizes to the axoneme of sperm flagella and motile cilia. It interacts with other flagellar proteins to stabilize microtubule doublets and regulate dynein arm function. Loss of SPEF1 leads to disorganized axonemes and impaired motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPEF1 Knockout HEK293 Cell Line | EDJ-KQ8276 | Human | 25876 | Details Get a Quote |
| SPEF1 Knockout HCT 116 Cell Line | EDJ-KQ34227 | Human | 25876 | Details Get a Quote |
| SPEF1 Knockout HeLa Cell Line | EDJ-KQ55840 | Human | 25876 | Details Get a Quote |
| SPEF1 Knockout A-549 Cell Line | EDJ-KQ64330 | Human | 25876 | Details Get a Quote |
