KCNU1 Gene

HGNC Family Ion channels
Name potassium channel, subfamily U, member 1
Description This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KCNU1, which encodes a sperm‐specific potassium channel belonging to the potassium/calcium‐activated channel subfamily U, is emerging as a critical regulator of fertilization. Functional studies in both humans and mice indicate that KCNU1 plays a pivotal role in normal sperm physiology by contributing to the membrane events that lead to an effective acrosome reaction—a key exocytotic process essential for the penetration of the egg’s protective layers. Notably, males harboring bi‐allelic KCNU1 variants (either through a missense or a splice‐site mutation) exhibit normal sperm counts and morphology yet suffer from impaired acrosome reactions and reduced progressive motility, culminating in infertility. In mouse models, the Kcnu1 null mutation likewise results in defects in sperm function that underlie reproductive failure, while assisted reproductive techniques such as intracytoplasmic sperm injection can bypass these deficiencies. Collectively, these results underscore the importance of KCNU1 in orchestrating the potassium fluxes necessary for membrane hyperpolarization events that trigger the acrosome reaction, thereby ensuring successful sperm–egg interaction and fertilization.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n References:."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ruyi Liu, Zheng Yan, Yong Fan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Reprod (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/humrep/deac102"}], "href": "https://doi.org/10.1093/humrep/deac102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35551387"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35551387"}]}]}]}
Synonyms KCNMA3, SLO3, KCNMC1, KCA5, KCA5.1
Proteins KCNU1_HUMAN
NCBI Gene ID 157855
API
Download Associations
Predicted Functions View KCNU1's ARCHS4 Predicted Functions.
Co-expressed Genes View KCNU1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View KCNU1's ARCHS4 Predicted Functions.

Functional Associations

KCNU1 has 2,481 functional associations with biological entities spanning 7 categories (molecular profile, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 78 datasets.

Click the + buttons to view associations for KCNU1 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles tissues with high or low expression of KCNU1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of KCNU1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of KCNU1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of KCNU1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of KCNU1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of KCNU1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CCLE Cell Line Gene Expression Profiles cell lines with high or low expression of KCNU1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNU1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of KCNU1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of KCNU1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of KCNU1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing KCNU1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing KCNU1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with KCNU1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with KCNU1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of KCNU1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with KCNU1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
CTD Gene-Chemical Interactions chemicals interacting with KCNU1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
dbGAP Gene-Trait Associations traits associated with KCNU1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by KCNU1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DGIdb Drug Targets 2026 interacting drugs for KCNU1 protein from the DGIdb Drug Targets 2026 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores diseases associated with KCNU1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with KCNU1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with KCNU1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with KCNU1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with KCNU1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with KCNU1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at KCNU1 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNU1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of KCNU1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells PubMedIDs of publications reporting gene signatures containing KCNU1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GAD Gene-Disease Associations diseases associated with KCNU1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with KCNU1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of KCNU1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of KCNU1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of KCNU1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of KCNU1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GlyGen Glycosylated Proteins ligands (chemical) binding KCNU1 protein from the GlyGen Glycosylated Proteins dataset.
GO Biological Process Annotations 2015 biological processes involving KCNU1 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2025 biological processes involving KCNU1 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing KCNU1 protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Cellular Component Annotations 2025 cellular components containing KCNU1 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by KCNU1 gene from the curated GO Molecular Function Annotations 2015 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by KCNU1 gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by KCNU1 gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of KCNU1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of KCNU1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
Guide to Pharmacology Chemical Ligands of Receptors ligands (chemical) binding KCNU1 receptor from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with KCNU1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
GWASdb SNP-Disease Associations diseases associated with KCNU1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
GWASdb SNP-Phenotype Associations phenotypes associated with KCNU1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
HMDB Metabolites of Enzymes interacting metabolites for KCNU1 protein from the curated HMDB Metabolites of Enzymes dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with KCNU1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for KCNU1 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of KCNU1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of KCNU1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of KCNU1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
KEGG Pathways 2026 pathways involving KCNU1 protein from the KEGG Pathways 2026 dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of KCNU1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of KCNU1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by KCNU1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of KCNU1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by KCNU1 gene mutations from the MPO Gene-Phenotype Associations dataset.
NURSA Protein Complexes protein complexs containing KCNU1 protein recovered by IP-MS from the NURSA Protein Complexes dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of KCNU1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of KCNU1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
Reactome Pathways 2014 pathways involving KCNU1 protein from the Reactome Pathways dataset.
Reactome Pathways 2024 pathways involving KCNU1 protein from the Reactome Pathways 2024 dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of KCNU1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of KCNU1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of KCNU1 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of KCNU1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of KCNU1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of KCNU1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of KCNU1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of KCNU1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with KCNU1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with KCNU1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.