ODF1: Outer Dense Fiber of Sperm Tails 1
A key structural protein in sperm flagellum, essential for male fertility.
Gene Information Card
| Symbol | ODF1 |
|---|---|
| Full Name | Outer Dense Fiber of Sperm Tails 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 4956 ncbi.nlm.nih.gov/gene/4956 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q14990 |
| OMIM ID | 182878 |
| HGNC ID | 8115 |
| Aliases | ODF, ODF2, ODFP, ODF1A, ODF1B, ODF1C, ODF1D, ODF1E, ODF1F, ODF1G, ODF1H, ODF1I, ODF1J, ODF1K, ODF1L, ODF1M, ODF1N, ODF1O, ODF1P, ODF1Q, ODF1R, ODF1S, ODF1T, ODF1U, ODF1V, ODF1W, ODF1X, ODF1Y, ODF1Z |
Description
ODF1 encodes a major protein component of the outer dense fibers (ODFs) of the sperm tail. ODFs are cytoskeletal structures that surround the axoneme in the midpiece and principal piece of the sperm flagellum, providing elastic recoil and structural integrity essential for normal sperm motility and male fertility. The protein is testis-specific and expressed during spermiogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss-of-function mutations in ODF1 disrupt outer dense fiber assembly, impairing sperm flagellar structure and motility. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 89.2 | High |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | High | Testis-specific expression |
| HeLa | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
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.202C>T (p.Arg68*) | Nonsense | Rare | Premature stop, loss of function |
| c.346_347delAG (p.Arg116Glufs*13) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants in ODF1 lead to truncated or absent protein, causing defective sperm tail structure and male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spermatogenesis (Reactome: R-HSA-72086)
• Cilium Assembly (Reactome: R-HSA-5617833)
Protein Summary
ODF1 is a 54 kDa protein (UniProt Q14990) localized to the outer dense fibers of the sperm flagellum. It contains a leucine zipper domain and is involved in the structural organization of the sperm tail. The protein is testis-specific and essential for normal sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ODF1 Knockout HEK293 Cell Line | EDJ-KQ4601 | Human | 4956 | Details Get a Quote |
| ODF1 Knockout HeLa Cell Line | EDJ-KQ54039 | Human | 4956 | Details Get a Quote |
| ODF1 Knockout A-549 Cell Line | EDJ-KQ62527 | Human | 4956 | Details Get a Quote |
| ODF1 Knockout HCT 116 Cell Line | EDJ-KQ70998 | Human | 4956 | Details Get a Quote |
