CATSPER1
Cation Channel Sperm Associated 1
Gene Information Card
| Symbol | CATSPER1 |
|---|---|
| Full Name | Cation Channel Sperm Associated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 117144 ncbi.nlm.nih.gov/gene/117144 |
| Ensembl ID | ENSG00000175294 |
| UniProt ID | Q8NEC5 |
| OMIM ID | 606389 |
| HGNC ID | 17116 |
| Aliases | CATSPER, CatSper1, FLJ20645 |
Description
CATSPER1 encodes a subunit of the CatSper calcium channel complex, which is essential for sperm hyperactivation and male fertility. The channel is sperm-specific and mediates calcium influx required for flagellar motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss-of-function mutations in CATSPER1 disrupt calcium ion entry into sperm, impairing hyperactivated motility and fertilization capacity. | ClinVar; OMIM 606389 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Testis (sperm) | High | Specific |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | High | CatSper channel expression is restricted to sperm flagellum |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.539G>A (p.Arg180His) | Missense | Rare | Likely loss of function; associated with asthenozoospermia |
| c.539G>T (p.Arg180Leu) | Missense | Rare | Likely loss of function; impairs calcium conductance |
Mutation functional classification
Loss of Function (LOF)
Most CATSPER1 mutations are loss-of-function, leading to reduced or absent calcium influx in sperm 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)
| • voltage-gated calcium channel activity | • calcium ion transmembrane transport |
| • sperm motility | • spermatogenesis |
| • flagellum |
Pathways
• Sperm motility and hyperactivation
• Calcium signaling pathway
Protein Summary
CATSPER1 is a 785-amino acid protein that forms part of the sperm-specific CatSper calcium channel. It contains six transmembrane domains and a long intracellular N-terminus. The channel is essential for calcium-dependent sperm hyperactivation and male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPER1 Knockout HEK293 Cell Line | EDJ-KQ7593 | Human | 117144 | Details Get a Quote |
| CATSPER1 Knockout A-549 Cell Line | EDJ-KQ32931 | Human | 117144 | Details Get a Quote |
| CATSPER1 Knockout HCT 116 Cell Line | EDJ-KQ32932 | Human | 117144 | Details Get a Quote |
| CATSPER1 Knockout HeLa Cell Line | EDJ-KQ32933 | Human | 117144 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
