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

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: mouse all
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Genomic context

Location:: 8p11.23

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (36784374..36936125)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (37060432..37212188)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (36641892..36793643)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

RH121708 (e-PCR)
- UniSTS:134449

SHGC-106159 (e-PCR)
- UniSTS:184663

SHGC-80739 (e-PCR)
- UniSTS:102272

WI-11522 (e-PCR)
- UniSTS:77185

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)

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

UniProtKB/TrEMBL

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

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

36784374..36936125

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DYE4
XM_011544424.3 → XP_011542726.1 potassium channel subfamily U member 1 isoform X1

UniProtKB/TrEMBL

B4DYE4

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
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
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

XR_001745486.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

37060432..37212188

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

E5RHP1
XM_054359858.1 → XP_054215833.1 potassium channel subfamily U member 1 isoform X2

UniProtKB/TrEMBL

B4DYE4
XM_054359857.1 → XP_054215832.1 potassium channel subfamily U member 1 isoform X1

UniProtKB/TrEMBL

B4DYE4
XM_054359860.1 → XP_054215835.1 potassium channel subfamily U member 1 isoform X4

UniProtKB/TrEMBL

E5RHP1
XM_054359861.1 → XP_054215836.1 potassium channel subfamily U member 1 isoform X5

UniProtKB/TrEMBL

E5RHP1