SLC9C1: Solute Carrier Family 9 Member C1
A sodium/hydrogen exchanger essential for sperm motility and male fertility
Gene Information Card
| Symbol | SLC9C1 |
|---|---|
| Full Name | Solute carrier family 9 member C1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 285335 ncbi.nlm.nih.gov/gene/285335 |
| Ensembl ID | ENSG00000172123 |
| UniProt ID | Q4G0N8 |
| OMIM ID | 612738 |
| HGNC ID | 20610 |
| Aliases | sNHE, NHE-10, FLJ46207 |
Description
SLC9C1 encodes a sodium/hydrogen exchanger (NHE) predominantly expressed in the testis, specifically in sperm flagella. It is essential for sperm motility and male fertility by regulating intracellular pH and bicarbonate transport. The protein contains a voltage-sensing domain and a cyclic nucleotide-binding domain, enabling regulation by membrane potential and cAMP.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthenozoospermia (sperm motility defects) | Loss-of-function mutations impair pH regulation in sperm, leading to reduced motility | PMID: 23593029, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 22.5 | High |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | High | Endogenous expression in flagellum |
| HEK293 | Not detected | No endogenous expression; used for recombinant studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1282C>T (p.Arg428*) | Nonsense | Rare | Premature stop, loss of function |
| c.1670G>A (p.Arg557His) | Missense | Rare | Impaired pH regulation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt ion exchange activity lead to asthenozoospermia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • sodium:proton antiporter activity (GO:0015385) | • transmembrane transport (GO:0055085) |
| • plasma membrane (GO:0005886) | • sperm flagellum (GO:0036126) |
| • sodium ion transport (GO:0006814) | • proton transport (GO:0015992) |
Pathways
• Sperm motility and capacitation (Reactome: R-HSA-1300645)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
SLC9C1 (sNHE) is a 1106-amino acid transmembrane protein with 12 predicted transmembrane helices. It contains a voltage-sensing domain (VSD) and a cyclic nucleotide-binding domain (CNBD) at the C-terminus. The protein localizes to the sperm flagellum and mediates electroneutral Na+/H+ exchange, critical for pH homeostasis and sperm motility. UniProt ID: Q4G0N8.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC9C1 Knockout HEK293 Cell Line | EDJ-KQ15290 | Human | 285335 | Details Get a Quote |
| SLC9C1 Knockout HeLa Cell Line | EDJ-KQ59509 | Human | 285335 | Details Get a Quote |
| SLC9C1 Knockout A-549 Cell Line | EDJ-KQ67978 | Human | 285335 | Details Get a Quote |
| SLC9C1 Knockout HCT 116 Cell Line | EDJ-KQ76355 | Human | 285335 | Details Get a Quote |
