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

Gene ID: 157855, updated on 22-Aug-2020

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
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
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

Genomic context

See KCNU1 in Genome Data Viewer
Location:
8p11.23
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (36784374..36936125)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (36641842..36793643)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23 pseudogene 10 Neighboring gene RNA, 5S ribosomal pseudogene 264 Neighboring gene mitochondrial ribosomal protein S7 pseudogene 1 Neighboring gene uncharacterized LOC105379375 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 8 Neighboring gene uncharacterized LOC105379376 Neighboring gene ribosomal protein L26 pseudogene 25

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

Associated conditions

Description Tests
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
GeneReviews: Not available

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT large conductance calcium-activated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
reproductive process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm-egg recognition TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

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)

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
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011544426.2XP_011542728.1  potassium channel subfamily U member 1 isoform X3

    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_017013144.2XP_016868633.1  potassium channel subfamily U member 1 isoform X2

  3. XM_011544424.2XP_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_024447080.1XP_024302848.1  potassium channel subfamily U member 1 isoform X4

    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_011544427.2XP_011542729.1  potassium channel subfamily U member 1 isoform X5

    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_001745486.2 RNA Sequence

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