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    KCNU1 potassium calcium-activated channel subfamily U member 1 [ Homo sapiens (human) ]

    Gene ID: 157855, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCNU1provided by HGNC
    Official Full Name
    potassium calcium-activated channel subfamily U member 1provided by HGNC
    Primary source
    HGNC:HGNC:18867
    See related
    Ensembl:ENSG00000215262 MIM:615215; AllianceGenome:HGNC:18867
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KCa5; Slo3; KCNMC1; KCa5.1; Kcnma3; SPGF79
    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 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]
    Expression
    Restricted expression toward testis (RPKM 4.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNU1 in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (36784374..36936125)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (37060432..37212188)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (36641892..36793643)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23 pseudogene 10 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:36483643-36484316 Neighboring gene MPRA-validated peak6993 silencer Neighboring gene RNA, 5S ribosomal pseudogene 264 Neighboring gene mitochondrial ribosomal protein S7 pseudogene 1 Neighboring gene uncharacterized LOC105379375 Neighboring gene TPT1 pseudogene 8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:36780820-36782019 Neighboring gene NANOG hESC enhancer GRCh37_chr8:36807536-36808072 Neighboring gene uncharacterized LOC105379376 Neighboring gene ribosomal protein L26 pseudogene 25

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility. Liu R, et al. Hum Reprod, 2022 Jun 30. PMID 35551387
    2. Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations. Lv M, et al. Reprod Biol Endocrinol, 2022 Jan 3. PMID 34980136, Free PMC Article
    3. A genetic variant of the sperm-specific SLO3 K(+) channel has altered pH and Ca(2+) sensitivities. Geng Y, et al. J Biol Chem, 2017 May 26. PMID 28377504, Free PMC Article
    4. The Ca2+-activated K+ current of human sperm is mediated by Slo3. Brenker C, et al. Elife, 2014 Mar 26. PMID 24670955, Free PMC Article
    5. Functional and structural analysis of the human SLO3 pH- and voltage-gated K+ channel. Leonetti MD, et al. Proc Natl Acad Sci U S A, 2012 Nov 20. PMID 23129643, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transmembrane determinants of voltage-gating differences between BK (Slo1) and Slo3 channels.
      Title: Transmembrane determinants of voltage-gating differences between BK (Slo1) and Slo3 channels.
    2. Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility.
      Title: Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility.
    3. Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.
      Title: Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.
    4. results suggest that sperm-specific genes can evolve rapidly and that natural genetic variation may have led to a SLO3 variant that differs from wild type in both pH and intracellular Ca(2+) sensitivities.
      Title: A genetic variant of the sperm-specific SLO3 K(+) channel has altered pH and Ca(2+) sensitivities.
    5. The authors conclude that Slo3 represents the principal K(+) channel in human sperm that carries the Ca(2+)-activated IKSper current.
      Title: The Ca2+-activated K+ current of human sperm is mediated by Slo3.
    6. These results present insights into the function of a protein expected to be critical for human reproduction and provide a framework to study the mechanism of pH gating in SLO3 channels.
      Title: Functional and structural analysis of the human SLO3 pH- and voltage-gated K+ channel.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 79
    MedGen: C5774290 OMIM: 620196 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables large conductance calcium-activated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in reproductive process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    potassium channel subfamily U member 1
    Names
    Calcium-activated potassium channel subunit alpha-3
    Calcium-activated potassium channel, subfamily M subunit alpha-3
    Slowpoke homolog 3
    potassium channel, subfamily U, member 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001031836.3 → NP_001027006.2  potassium channel subfamily U member 1

      See identical proteins and their annotated locations for NP_001027006.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
      Source sequence(s)
      AC124076, AC138136, BC028701, DC401954
      Consensus CDS
      CCDS55220.1
      UniProtKB/Swiss-Prot
      A8MYU2, B4DYE4
      Related
      ENSP00000382770.3, ENST00000399881.8
      Conserved Domains (3) summary
      pfam00520
      Location:141 → 323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469 → 557
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
      pfam07885
      Location:230 → 317
      Ion_trans_2; Ion channel

    RNA

    1. NR_134267.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302391, BC028701, DC401954
      Related
      ENST00000522372.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      36784374..36936125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544426.3 → XP_011542728.1  potassium channel subfamily U member 1 isoform X3

      UniProtKB/TrEMBL
      E5RHP1
      Conserved Domains (3) summary
      pfam00520
      Location:141 → 323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469 → 557
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
      pfam07885
      Location:230 → 317
      Ion_trans_2; Ion channel

    2. XM_017013144.3 → XP_016868633.1  potassium channel subfamily U member 1 isoform X2

    3. XM_011544424.3 → XP_011542726.1  potassium channel subfamily U member 1 isoform X1

      Conserved Domains (3) summary
      pfam00520
      Location:141 → 323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469 → 548
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
      pfam07885
      Location:230 → 317
      Ion_trans_2; Ion channel

    4. XM_024447080.2 → XP_024302848.1  potassium channel subfamily U member 1 isoform X4

      UniProtKB/TrEMBL
      E5RHP1
      Conserved Domains (2) summary
      pfam00520
      Location:103 → 323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469 → 557
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit

    5. XM_011544427.3 → XP_011542729.1  potassium channel subfamily U member 1 isoform X5

      UniProtKB/TrEMBL
      E5RHP1
      Conserved Domains (3) summary
      pfam00520
      Location:141 → 323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469 → 557
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
      pfam07885
      Location:230 → 317
      Ion_trans_2; Ion channel

    RNA

    1. XR_001745486.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      37060432..37212188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359859.1 → XP_054215834.1  potassium channel subfamily U member 1 isoform X3

    2. XM_054359858.1 → XP_054215833.1  potassium channel subfamily U member 1 isoform X2

    3. XM_054359857.1 → XP_054215832.1  potassium channel subfamily U member 1 isoform X1

    4. XM_054359860.1 → XP_054215835.1  potassium channel subfamily U member 1 isoform X4

    5. XM_054359861.1 → XP_054215836.1  potassium channel subfamily U member 1 isoform X5

    RNA

    1. XR_008487815.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MYU2.2 GenPept UniProtKB/Swiss-Prot:A8MYU2

    Gene LinkOut

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