KCNU1 (potassium calcium-activated channel subfamily U member 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 157855
Gene name Potassium calcium-activated channel subfamily U member 1
Gene symbol KCNU1
Synonyms (NCBI Gene)
KCNMC1KCa5KCa5.1Kcnma3SPGF79Slo3
Chromosome 8
Chromosome location 8p11.23
Summary 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
miRNA miRNA information provided by mirtarbase database.
3
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miRTarBase ID miRNA Experiments Reference
MIRT1082516 hsa-miR-3908 CLIP-seq
MIRT1082516 hsa-miR-3908 CLIP-seq
MIRT1082516 hsa-miR-3908 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23 Show/Hide all (23)
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GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005267 Function Potassium channel activity IBA
GO:0005267 Function Potassium channel activity IEA
GO:0005267 Function Potassium channel activity IMP 34980136, 35551387
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
615215 18867 ENSG00000215262
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8MYU2
Protein name Potassium channel subfamily U member 1 (Calcium-activated potassium channel subunit alpha-3) (Calcium-activated potassium channel, subfamily M subunit alpha-3) (KCa5) (Slowpoke homolog 3)
Protein function Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+) (PubMed:23129643, PubMed:24670955, PubMed:36649421, PubMed:38267364, PubMed:9452476). Represents the primary spermatozoan K(+)
PDB 4HPF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 98 → 323 Ion transport protein Family
PF03493 BK_channel_a 462 → 557 Calcium-activated BK potassium channel alpha subunit Family
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:34980136, ECO:0000269|PubMed:35551387, ECO:0000269|PubMed:9452476}.
Sequence 
MFQTKLRNETWEDLPKMSCTTEIQAAFILSSFVTFFSGLIILLIFRLIWRSVKKWQIIKG
TGIILELFTSGTIARSHVRSLHFQGQFRDHIEMLLSAQTFVGQVLVILVFVLSIGSLIIY
FINSADPVGSCSSYEDKTIPIDLVFNAFFSFYFGLRFMAADDKIKFWLEMNSIVDIFTIP
PTFISYYLKSNWLGLRFLRALRLLELPQILQILRAIKTSNSVKFSKLLSIILSTWFTAAG
FIHLVENSGDPWLKGRNSQNISYFESIYLVMATTSTVGFGDVVAKTSLGRTFIMFFTLGS
LILFANYIPEMVELFANKRKYTSSYEALKGKKFIVVCGNITVDSVTAFLRNFLRDKSGEI
NTEIVFLGETPPSLELETIFKCYLAYTTFISGSAMKWEDLRRVAVESAEACLIIANPLCS
DSHAEDISNIMRVLSIKNYDSTTRIIIQILQSHNKVYLPKIPSWNWDTGDNIICFAELKL
GFIAQGCLVPGLCTFLTSLFVEQNKKVMPKQTWKKHFLNSMKNKILTQRLSDDFAGMSFP
EVARLCFLKMHLLLIAIEYKSLFTDGFCGLILNPPPQVRIRKNTLGFFIAETPKDVRRAL
FYCSVCHDDVFIPELITNCGCKSRSRQHITVPSVKRMKKCLKGISSRISGQDSPPRVSAS
TSSISNFTTRTLQHDVEQDSDQLDSSGMFHWCKPTSLDKVTLKRTGKSKYKFRNHIVACV
FGDAHSAPMGLRNFVMPLRASNYTRKELKDIVFIGSLDYLQREWRFLWNFPQIYILPGCA
LYSGDLHAANIEQCSMCAVLSPPPQPSSNQTLVDTEAIMATLTIGSLQIDSSSDPSPSVS
EETPGYTNGHNEKSNCRKVPILTELKNPSNIHFIEQLGGLEGSLQETNLHLSTAFSTGTV
FSGSFLDSLLATAFYNYHVLELLQMLVTGGVSSQLEQHLDKDKVYGVADSCTSLLSGRNR
CKLGLLSLHETILSDVNPRNTFGQLFCGSLDLFGILCVGLYRIIDEEELNPENKRFVITR
PANEFKLLPSDLVFCAIPFSTACYKRNEEFSLQKSYEIVNKASQTTETHSDTNCPPTIDS
VTETLYSPVYSYQPRTNSLSFPKQIAWNQSRTNSIISSQIPLGDNAKENERKTSDEVYDE
DPFAYSEPL
Sequence length 1149
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
cGMP-PKG signaling pathway Sperm Motility And Taxes
Vascular smooth muscle contraction  
Insulin secretion  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic failure 79 Pathogenic rs377269265, rs2536049981, rs764919521 RCV003152321
RCV003152322
RCV003152323
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (15)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 21254220
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 25751625, 27117709, 29059683, 32139696, 32887889, 34290314, 34594039, 37340002
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 25342443, 25751625, 27117709, 29058716, 29059683, 32139696, 32887889, 33037222, 34290314, 34594039, 35414113, 37340002
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONTRACTURE — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthenozoospermia Asthenozoospermia Pubtator 34980136 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 34980136 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus CTD_human_DG 28869590
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Infertility Male Male infertility Pubtator 34980136, 36649421 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 34980136 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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LRRC23 2 shared diseasesCorneal astigmatism, Spermatogenic failure 4 shared evidence sourcesGWAS catalog (Corneal astigmatism), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Corneal astigmatism, Spermatogenic failure — evidence mostly GWAS catalog. DNAH2 2 shared diseasesDiabetes mellitus, Spermatogenic failure 5 shared evidence sourcesGWAS catalog (Diabetes mellitus), GenCC (Spermatogenic failure), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Diabetes mellitus, Spermatogenic failure — evidence mostly GWAS catalog. ZC3H11B 2 shared diseasesCorneal astigmatism, Diabetes mellitus 2 shared evidence sourcesGWAS catalog (Corneal astigmatism), GWAS catalog (Diabetes mellitus) Related via 2 shared diseases including Corneal astigmatism, Diabetes mellitus — evidence mostly GWAS catalog. DNAH8 2 shared diseasesDiabetes mellitus, Spermatogenic failure 5 shared evidence sourcesGWAS catalog (Diabetes mellitus), GenCC (Spermatogenic failure), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Diabetes mellitus, Spermatogenic failure — evidence mostly GWAS catalog. RCCD1 3 shared diseasesDiabetes mellitus, Estrogen-receptor negative breast cancer, Gastric cancer 3 shared evidence sourcesGWAS catalog (Diabetes mellitus), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Gastric cancer) Related via 3 shared diseases including Diabetes mellitus, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog.
Cancer Linked via 2 of 5 related genesDNAH2, RCCD1 Heart failure Linked via 2 of 5 related genesDNAH2, DNAH8 Osteoarthritis Linked via 2 of 5 related genesZC3H11B, DNAH8 Hyperopia Linked via 1 of 5 related genesLRRC23 Atrial fibrillation Linked via 1 of 5 related genesDNAH2