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

Gene ID: 157855, updated on 17-Sep-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

General gene information

Markers

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

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_001031836.3NP_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:141323
    Ion_trans; Ion transport protein
    pfam03493
    Location:469557
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:230317
    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_011544426.3XP_011542728.1  potassium channel subfamily U member 1 isoform X3

    UniProtKB/TrEMBL
    E5RHP1
    Conserved Domains (3) summary
    pfam00520
    Location:141323
    Ion_trans; Ion transport protein
    pfam03493
    Location:469557
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:230317
    Ion_trans_2; Ion channel
  2. XM_017013144.3XP_016868633.1  potassium channel subfamily U member 1 isoform X2

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

    Conserved Domains (3) summary
    pfam00520
    Location:141323
    Ion_trans; Ion transport protein
    pfam03493
    Location:469548
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:230317
    Ion_trans_2; Ion channel
  4. XM_024447080.2XP_024302848.1  potassium channel subfamily U member 1 isoform X4

    UniProtKB/TrEMBL
    E5RHP1
    Conserved Domains (2) summary
    pfam00520
    Location:103323
    Ion_trans; Ion transport protein
    pfam03493
    Location:469557
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
  5. XM_011544427.3XP_011542729.1  potassium channel subfamily U member 1 isoform X5

    UniProtKB/TrEMBL
    E5RHP1
    Conserved Domains (3) summary
    pfam00520
    Location:141323
    Ion_trans; Ion transport protein
    pfam03493
    Location:469557
    BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    pfam07885
    Location:230317
    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_054359859.1XP_054215834.1  potassium channel subfamily U member 1 isoform X3

    UniProtKB/TrEMBL
    E5RHP1
  2. XM_054359858.1XP_054215833.1  potassium channel subfamily U member 1 isoform X2

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

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

    UniProtKB/TrEMBL
    E5RHP1
  5. XM_054359861.1XP_054215836.1  potassium channel subfamily U member 1 isoform X5

    UniProtKB/TrEMBL
    E5RHP1

RNA

  1. XR_008487815.1 RNA Sequence