FSIP1 Gene - Fibrous Sheath Interacting Protein 1
A gene encoding a protein involved in sperm flagellar function and male fertility
Gene Information Card
| Symbol | FSIP1 |
|---|---|
| Full Name | Fibrous Sheath Interacting Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 161835 ncbi.nlm.nih.gov/gene/161835 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8N9N8 |
| OMIM ID | 618615 |
| HGNC ID | 23306 |
| Aliases | FSIP1, FLJ22662, MGC13170 |
Description
FSIP1 (Fibrous Sheath Interacting Protein 1) is a protein-coding gene located on chromosome 15q21.1. The encoded protein is a component of the fibrous sheath, a cytoskeletal structure in the sperm flagellum essential for sperm motility and male fertility. FSIP1 interacts with other fibrous sheath proteins and is involved in sperm tail assembly and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Defects in FSIP1 disrupt fibrous sheath integrity, impairing sperm motility | ClinVar, OMIM |
| Spermatogenic failure | Loss of FSIP1 function leads to abnormal sperm flagella morphology | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 3.1 | Low |
| Prostate | 2.8 | Low |
| Ovary | 1.5 | Low |
| Lung | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | 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 FSIP1 lead to truncated or absent protein, disrupting fibrous sheath formation and sperm motility.
Gain of Function (GOF)
No gain-of-function mutations reported for FSIP1.
Dominant Negative (DN)
No dominant-negative mutations reported for FSIP1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005929 - cilium | • GO:0036126 - sperm flagellum |
| • GO:0005515 - protein binding | • GO:0007286 - spermatid development |
| • GO:0030317 - flagellated sperm motility |
Pathways
• Spermatogenesis
• Cilium assembly and flagellum organization
Protein Summary
The FSIP1 protein is a 584-amino acid polypeptide localized to the fibrous sheath of the sperm flagellum. It interacts with other fibrous sheath components such as AKAP4 and AKAP3, contributing to the structural integrity and signaling functions required for sperm motility. FSIP1 is highly expressed in testis and is essential for male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FSIP1 Knockout MDA-MB-231 Cell Line | EDJ-KQ78067 | Human | 161835 | Details Get a Quote |
| FSIP1 Knockout HEK293 Cell Line | EDJ-KQ13526 | Human | 161835 | Details Get a Quote |
| FSIP1 Knockout A-549 Cell Line | EDJ-KQ43136 | Human | 161835 | Details Get a Quote |
| FSIP1 Knockout HCT 116 Cell Line | EDJ-KQ43137 | Human | 161835 | Details Get a Quote |
| FSIP1 Knockout HeLa Cell Line | EDJ-KQ43138 | Human | 161835 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
