Kcnc1 MGI Mouse Gene Detail - MGI:96667 - potassium voltage gated channel, Shaw-related subfamily, member 1

Kcnc1 Gene Detail

Symbol

Kcnc1
Name

potassium voltage gated channel, Shaw-related subfamily, member 1
Synonyms

C230009H10Rik, Kcr2-1, KShIIIB, Kv3.1, KV4, NGK2, Shaw

Feature Type

protein coding gene
IDs

MGI:96667
NCBI Gene: 16502
Gene Overview

MyGene.info: KCNC1

Sequence Map

Chr7:46396497-46438704 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

42208 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 30.10 cM
Mapping Data

9 experiments

Human Ortholog

KCNC1, potassium voltage-gated channel subfamily C member 1

Vertebrate Orthologs

9

Human Ortholog

KCNC1, potassium voltage-gated channel subfamily C member 1
Orthology source: HomoloGene, HGNC
Synonyms

EPM7, KV3.1, KV4, NGK2
Links

HGNC:6233

NCBI Gene ID: 3746

neXtProt AC: NX_P48547
Chr Location

11p15; chr11:17735910-17864288 (+) GRCh38.p2

HomoloGene

Vertebrate Homology Class 68134
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish
HCOP

human homology predictions: KCNC1
Protein SuperFamily

potassium voltage-gated channel, alpha subunit, subfamilies A/C/D/F/G/S
Gene Tree

Kcnc1

Diseases

1 with human KCNC1 associations

				Human Disease	Mouse Models
				Epilepsy, Progressive Myoclonic 7; EPM7 OMIM: 616187

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

17 phenotypes from multigenic genotypes
19 phenotype references

All Mutations and Alleles

3
Targeted

3
Incidental Mutations

APF , CvDC

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All GO Annotations

36
GO References

9

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

24
Tissues

15
cDNA Data

49
Literature Summary

12

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO
Other Vertebrate Links

Xenbase kcnc1

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Kcnc1 interacts with 435 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

48
RefSeq

10
UniProt

5
CCDS

CCDS21278.1, CCDS52252.1
UniGene

249386

			Length	Strain/Species	Flank
genomic	OTTMUSG00000034762	VEGA Gene Model \| MGI Sequence Detail	42208	C57BL/6J	± kb
transcript	OTTMUST00000088338	VEGA \| MGI Sequence Detail	3156	Not Applicable
polypeptide	OTTMUSP00000048127	VEGA \| MGI Sequence Detail	585	Not Applicable

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SNPs within 2kb

405 from dbSNP Build 142

RFLP

3

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UniProt

5 Sequences
Protein Ontology

PR:000000781 voltage-gated potassium channel KCNC1
InterPro Domains

IPR000210 BTB/POZ domain

IPR005821 Ion transport domain

IPR003131 Potassium channel tetramerisation-type BTB domain

IPR003968 Potassium channel, voltage dependent, Kv

IPR003974 Potassium channel, voltage dependent, Kv3

IPR005403 Potassium channel, voltage dependent, Kv3.1

IPR011333 SKP1/BTB/POZ domain

IPR027359 Voltage-dependent channel, four helix bundle domain

IPR028325 Voltage-gated potassium channel

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All nucleic 53

cDNA 50

Primer pair 3

Microarray probesets 8

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MGD-MRK-11571, MGD-MRK-11580, MGD-MRK-14399, MGI:2443956

Summaries

All 72

Developmental Gene Expression 12

Gene Ontology 9

Phenotypes 19
Earliest

J:40342 Yokoyama S, et al., Potassium channels from NG108-15 neuroblastoma-glioma hybrid cells. Primary structure and functional expression from cDNAs. FEBS Lett. 1989 Dec 18;259(1):37-42
Latest

J:233469 Vogt D, et al., The parvalbumin/somatostatin ratio is increased in Pten mutant mice and by human PTEN ASD alleles. Cell Rep. 2015 May 12;11(6):944-56

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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