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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KCNU1
potassium calcium-activated channel subfamily U member 1
Chromosome 8 Β· 8p11.23
NCBI Gene: 157855Ensembl: ENSG00000215262.8HGNC: HGNC:18867UniProt: A8MYU2
16PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm flagellumpotassium ion transmembrane transportpotassium channel activityreproductive processtype 2 diabetes mellitusspermatogenic failure 79breast carcinomaBreast hypertrophy
✦AI Summary

KCNU1 (also known as SLO3) encodes a testis-specific potassium channel that is essential for male fertility and sperm function 1. The channel is activated by both intracellular pH increases and membrane voltage, mediating potassium efflux that underlies the primary spermatozoan K+ current 2. During sperm capacitation, KCNU1 channels mediate membrane hyperpolarization triggered by the alkaline environment encountered in the female reproductive tract, which is critical for preparing sperm for fertilization 3. The channel plays an indispensable role in the acrosome reaction, a key exocytotic process required for sperm-egg penetration and fusion 4. Functional studies demonstrate that human KCNU1 channels are modulated by LRRC52, a testis-specific accessory subunit, and their activity is sensitive to pH changes 2. Clinically, bi-allelic variants in KCNU1 cause male infertility characterized by impaired acrosome reactions, despite normal sperm quantity and morphology 5. These genetic defects can be overcome through intracytoplasmic sperm injection, providing a therapeutic option for affected individuals 5. The identification of KCNU1 mutations expands our understanding of genetic causes of male infertility and provides new diagnostic markers.

Sources cited
1
KCNU1 is a testis-specific potassium channel important for sperm physiology and fertility
PMID: 22441763
2
KCNU1 channels are activated by intracellular pH and voltage, mediate K+ current, and are modulated by LRRC52
PMID: 23129643
3
KCNU1 channels mediate membrane hyperpolarization during human sperm capacitation
PMID: 24737063
4
Ion channels including KCNU1 are pivotal for the acrosome reaction
PMID: 27194349
5
Bi-allelic KCNU1 variants cause male infertility with impaired acrosome reactions, treatable by ICSI
PMID: 35551387
Disease Associationsβ“˜21
type 2 diabetes mellitusOpen Targets
0.48Moderate
spermatogenic failure 79Open Targets
0.47Moderate
breast carcinomaOpen Targets
0.45Moderate
Breast hypertrophyOpen Targets
0.36Weak
Abnormality of the skeletal systemOpen Targets
0.35Weak
HypercholesterolemiaOpen Targets
0.32Weak
breast cancerOpen Targets
0.31Weak
breast neoplasmOpen Targets
0.31Weak
Abnormality of the breastOpen Targets
0.30Weak
schizophreniaOpen Targets
0.30Weak
breast diseaseOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.29Weak
estrogen-receptor positive breast cancerOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.27Weak
hypertrophic cardiomyopathyOpen Targets
0.26Weak
asthmaOpen Targets
0.26Weak
contractureOpen Targets
0.25Weak
benign chondrogenic neoplasmOpen Targets
0.23Weak
metabolic syndromeOpen Targets
0.21Weak
diabetic ketoacidosisOpen Targets
0.20Weak
Spermatogenic failure 79UniProt
Pathogenic Variants3
NM_001031836.3(KCNU1):c.1237A>T (p.Ile413Phe)Pathogenic
Spermatogenic failure 79
β˜†β˜†β˜†β˜†2023β†’ Residue 413
NM_001031836.3(KCNU1):c.2144A>G (p.His715Arg)Pathogenic
Spermatogenic failure 79
β˜†β˜†β˜†β˜†2023β†’ Residue 715
NM_001031836.3(KCNU1):c.1295+3A>CPathogenic
Spermatogenic failure 79
β˜†β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
KCNQ5Shared pathway100%KCNMB1Protein interaction98%KCNN2Protein interaction98%PRKG1Protein interaction98%PRKG2Protein interaction98%KCNMB2Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Heart
0%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KCNU1KCNQ5KCNMB1KCNN2PRKG1PRKG2KCNMB2
PROTEIN STRUCTURE
Preparing viewer…
PDB4HPF Β· 3.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.62–1.03]
RankingsWhere KCNU1 stands among ~20K protein-coding genes
  • #15,292of 20,598
    Most Researched16
  • #4,158of 5,498
    Most Pathogenic Variants3
  • #10,266of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedKCNU1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Ion channels in sperm physiology and male fertility and infertility.
PMID: 22441763
J Androl Β· 2012
1.00
2
An integrative analysis of DNA methylation and gene expression to predict lung adenocarcinoma prognosis.
PMID: 36105089
Front Genet Β· 2022
0.90
3
Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility.
PMID: 35551387
Hum Reprod Β· 2022
0.80
4
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.
PMID: 29855537
Sci Rep Β· 2018
0.70
5
Rediscovering sperm ion channels with the patch-clamp technique.
PMID: 21642646
Mol Hum Reprod Β· 2011
0.60