Kcnc1 potassium voltage gated channel, Shaw-related subfamily, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcnc1provided by MGI
Official Full Name: potassium voltage gated channel, Shaw-related subfamily, member 1provided by MGI
Primary source: MGI:MGI:96667
See related: Ensembl:ENSMUSG00000058975 AllianceGenome:MGI:96667
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: KV4; NGK2; Shaw; Kv3.1; Kcr2-1; KShIIIB; C230009H10Rik
Summary: Enables kinesin binding activity and transmembrane transporter binding activity. Predicted to be involved in several processes, including positive regulation of potassium ion transmembrane transport; potassium ion transmembrane transport; and protein tetramerization. Located in axolemma; dendrite membrane; and neuronal cell body membrane. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; hindlimb muscle; and liver. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy 7. Orthologous to human KCNC1 (potassium voltage-gated channel subfamily C member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 44.0), frontal lobe adult (RPKM 12.4) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 30.1 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (46045643..46088130)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (46396219..46438706)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ankyrin-R regulates fast-spiking interneuron excitability through perineuronal nets and Kv3.1b K(+) channels.
Title: Ankyrin-R regulates fast-spiking interneuron excitability through perineuronal nets and Kv3.1b K(+) channels.
Kv3.1 channels stimulate adult neural precursor cell proliferation and neuronal differentiation.
Title: Kv3.1 channels stimulate adult neural precursor cell proliferation and neuronal differentiation.
The resting (closed) Kv3.1 channel conformation forms the high-affinity state for gambierol.
Title: The ladder-shaped polyether toxin gambierol anchors the gating machinery of Kv3.1 channels in the resting state.
high-affinity multimeric binding between the Kv3.1 T1 domain and KIF5B requires three basic residues in the KIF5B tail. Kv3.1 T1 competes with the motor domain and microtubules, but not with kinesin light chain 1 (KLC1), for binding to the KIF5B tail.
Title: Activation of conventional kinesin motors in clusters by Shaw voltage-gated K+ channels.
Although all Kv3 transcripts were significantly expressed at embryonic age in whole brain extracts, only Kv3.1, Kv3.2 and Kv3.4 subunit proteins were present, suggesting a novel role for Kv3 channels at this developmental stage.
Title: Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.
Block of Kv3.1 channels hinders spike repolarization and severely depresses evoked fast firing in deep cerebellar nuclear neurons.
Title: BK and Kv3.1 potassium channels control different aspects of deep cerebellar nuclear neurons action potentials and spiking activity.
Mice lacking both Kcnc1 and Kcnc2 genes fail to express the Kv3.1 and Kv3.2 channels in in the suprachiasmatic nucleus.
Title: Fast delayed rectifier potassium current: critical for input and output of the circadian system.
These results provide evidence that acoustically driven auditory activity can selectively regulate high-threshold potassium currents in the MNTB of normal hearing mice, likely due to an increased membrane expression of Kv3.1b channels.
Title: Sound stimulation modulates high-threshold K(+) currents in mouse auditory brainstem neurons.
As Kcnc1, but not Kcnc3, alleles are lost, mutant mice exhibit increasing gait ataxia accompanied by spike broadening and deceleration in deep cerebellar nuclei. neurons.
Title: Rescue of motor coordination by Purkinje cell-targeted restoration of Kv3.3 channels in Kcnc3-null mice requires Kcnc1.
Kv3.1 expressed in both GAD- and GAD+ cells, albeit at different densities and distribution. They likely contribute to the distinct biophysical properties of both GAD- and GAD+ neurons in the dentate nucleus.
Title: Subcellular localization of the voltage-gated potassium channels Kv3.1b and Kv3.3 in the cerebellar dentate nucleus of glutamic acid decarboxylase 67-green fluorescent protein transgenic mice.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Kcnc1 (e-PCR), detects polymorphism
- UniSTS:143656

BE106226 (e-PCR)
- UniSTS:246178

NoName (e-PCR)
- UniSTS:495284

RH27338 (e-PCR)
- UniSTS:85691

Y07521 (e-PCR)
- UniSTS:125909

UniSTS:531455 (e-PCR)
- UniSTS:531455

Kcnc1 (e-PCR), detects polymorphism
- UniSTS:531455

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables delayed rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables delayed rectifier potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables kinesin binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	ISO Inferred from Sequence Orthology more info
enables voltage-gated potassium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
involved_in corpus callosum development	IEA Inferred from Electronic Annotation more info
involved_in globus pallidus development	IEA Inferred from Electronic Annotation more info
involved_in optic nerve development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein tetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein tetramerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in response to amine	IEA Inferred from Electronic Annotation more info
involved_in response to auditory stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to fibroblast growth factor	IEA Inferred from Electronic Annotation more info
involved_in response to light intensity	IEA Inferred from Electronic Annotation more info
involved_in response to nerve growth factor	IEA Inferred from Electronic Annotation more info
involved_in response to potassium ion	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axolemma	IDA Inferred from Direct Assay more info	PubMed
is_active_in axon terminus	IBA Inferred from Biological aspect of Ancestor more info
located_in calyx of Held	IEA Inferred from Electronic Annotation more info
is_active_in calyx of Held	ISO Inferred from Sequence Orthology more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection membrane	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in neuronal cell body membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	ISO Inferred from Sequence Orthology more info
part_of voltage-gated potassium channel complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: voltage-gated potassium channel KCNC1; potassium voltage-gated channel subfamily C member 1

Names: voltage-gated potassium channel subunit Kv3.1; voltage-gated potassium channel subunit Kv4

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_001112739.2 → NP_001106210.1 voltage-gated potassium channel KCNC1 isoform 1

See identical proteins and their annotated locations for NP_001106210.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

AC020786, AC090652, AK162964, BB750064, CJ130517

Consensus CDS

CCDS52252.1

UniProtKB/TrEMBL

Q3TR92

Related

ENSMUSP00000124938.2, ENSMUST00000160433.3

Conserved Domains (2) summary

cd18414
Location:6 → 122

BTB_KCNC1_3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC1 and KCNC3

pfam00520
Location:189 → 447

Ion_trans; Ion transport protein
NM_008421.3 → NP_032447.1 voltage-gated potassium channel KCNC1 isoform 2

See identical proteins and their annotated locations for NP_032447.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two exons and its 3' exon extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC020786, AC090652

Consensus CDS

CCDS21278.1

UniProtKB/Swiss-Prot

E9PVV3, P15388

UniProtKB/TrEMBL

Q3UHB6

Related

ENSMUSP00000025202.7, ENSMUST00000025202.8

Conserved Domains (2) summary

cd18414
Location:6 → 122

BTB_KCNC1_3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC1 and KCNC3

pfam00520
Location:189 → 447

Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

46045643..46088130

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540646.2 → XP_006540709.1 potassium voltage-gated channel subfamily C member 1 isoform X1

Conserved Domains (2) summary

cd18414
Location:6 → 122

BTB_KCNC1_3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC1 and KCNC3

pfam00520
Location:189 → 447

Ion_trans; Ion transport protein
XM_006540647.2 → XP_006540710.1 potassium voltage-gated channel subfamily C member 1 isoform X2

See identical proteins and their annotated locations for XP_006540710.1

UniProtKB/TrEMBL

Q3TR92

Conserved Domains (2) summary

cd18414
Location:6 → 122

BTB_KCNC1_3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC1 and KCNC3

pfam00520
Location:189 → 447

Ion_trans; Ion transport protein
XM_006540648.2 → XP_006540711.1 potassium voltage-gated channel subfamily C member 1 isoform X3

Conserved Domains (2) summary

cd18414
Location:6 → 122

BTB_KCNC1_3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC1 and KCNC3

pfam00520
Location:189 → 447

Ion_trans; Ion transport protein