KCNG1 potassium voltage-gated channel modifier subfamily G member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNG1provided by HGNC
Official Full Name: potassium voltage-gated channel modifier subfamily G member 1provided by HGNC
Primary source: HGNC:HGNC:6248
See related: Ensembl:ENSG00000026559 MIM:603788; AllianceGenome:HGNC:6248
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: K13; kH2; KCNG; KV6.1
Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]
Expression: Biased expression in endometrium (RPKM 3.9), placenta (RPKM 2.0) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (51003656..51023107, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (52774233..52793754, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (49620193..49639644, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH). 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of KCNG1 by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed
Knockdown of potassium voltage-gated channel, subfamily G, member 1 (KCNG1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement 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	IDA Inferred from Direct Assay more info	PubMed
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 regulatory subunit KCNG1; potassium voltage-gated channel subfamily G member 1

Names: potassium channel KH2; potassium channel Kv6.1; potassium channel, voltage gated modifier subfamily G, member 1; potassium voltage-gated channel, subfamily G, member 1; voltage-gated potassium channel subunit Kv6.1

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_002237.4 → NP_002228.2 voltage-gated potassium channel regulatory subunit KCNG1

See identical proteins and their annotated locations for NP_002228.2

Status: REVIEWED

Source sequence(s)

AF033383, BC046629, BG029104, CN301212, CN480356, DA684016

Consensus CDS

CCDS13436.1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

UniProtKB/TrEMBL

Q86Y85

Related

ENSP00000360626.4, ENST00000371571.5

Conserved Domains (2) summary

cd18421
Location:60 → 173

BTB_POZ_KCNG1_2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G members, KCNG1 and KCNG2

pfam00520
Location:227 → 471

Ion_trans; Ion transport protein

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

51003656..51023107 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528800.3 → XP_011527102.1 potassium voltage-gated channel subfamily G member 1 isoform X1

See identical proteins and their annotated locations for XP_011527102.1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

UniProtKB/TrEMBL

Q86Y85

Conserved Domains (2) summary

cd18421
Location:60 → 173

BTB_POZ_KCNG1_2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G members, KCNG1 and KCNG2

pfam00520
Location:227 → 471

Ion_trans; Ion transport protein
XM_047440142.1 → XP_047296098.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_011528802.3 → XP_011527104.1 potassium voltage-gated channel subfamily G member 1 isoform X1

See identical proteins and their annotated locations for XP_011527104.1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

UniProtKB/TrEMBL

Q86Y85

Conserved Domains (2) summary

cd18421
Location:60 → 173

BTB_POZ_KCNG1_2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G members, KCNG1 and KCNG2

pfam00520
Location:227 → 471

Ion_trans; Ion transport protein
XM_047440141.1 → XP_047296097.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_011528801.2 → XP_011527103.1 potassium voltage-gated channel subfamily G member 1 isoform X1

See identical proteins and their annotated locations for XP_011527103.1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

UniProtKB/TrEMBL

Q86Y85

Conserved Domains (2) summary

cd18421
Location:60 → 173

BTB_POZ_KCNG1_2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G members, KCNG1 and KCNG2

pfam00520
Location:227 → 471

Ion_trans; Ion transport protein
XM_011528806.3 → XP_011527108.1 potassium voltage-gated channel subfamily G member 1 isoform X1

See identical proteins and their annotated locations for XP_011527108.1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

UniProtKB/TrEMBL

Q86Y85

Conserved Domains (2) summary

cd18421
Location:60 → 173

BTB_POZ_KCNG1_2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G members, KCNG1 and KCNG2

pfam00520
Location:227 → 471

Ion_trans; Ion transport protein
XM_011528804.2 → XP_011527106.1 potassium voltage-gated channel subfamily G member 1 isoform X1

See identical proteins and their annotated locations for XP_011527106.1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

UniProtKB/TrEMBL

Q86Y85

Conserved Domains (2) summary

cd18421
Location:60 → 173

BTB_POZ_KCNG1_2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G members, KCNG1 and KCNG2

pfam00520
Location:227 → 471

Ion_trans; Ion transport protein
XM_047440143.1 → XP_047296099.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_011528803.3 → XP_011527105.1 potassium voltage-gated channel subfamily G member 1 isoform X1

See identical proteins and their annotated locations for XP_011527105.1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

UniProtKB/TrEMBL

Q86Y85

Conserved Domains (2) summary

cd18421
Location:60 → 173

BTB_POZ_KCNG1_2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G members, KCNG1 and KCNG2

pfam00520
Location:227 → 471

Ion_trans; Ion transport protein
XM_006723785.4 → XP_006723848.1 potassium voltage-gated channel subfamily G member 1 isoform X1

See identical proteins and their annotated locations for XP_006723848.1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

UniProtKB/TrEMBL

Q86Y85

Conserved Domains (2) summary

cd18421
Location:60 → 173

BTB_POZ_KCNG1_2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G members, KCNG1 and KCNG2

pfam00520
Location:227 → 471

Ion_trans; Ion transport protein

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

52774233..52793754 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323417.1 → XP_054179392.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323420.1 → XP_054179395.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323423.1 → XP_054179398.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323424.1 → XP_054179399.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323419.1 → XP_054179394.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323418.1 → XP_054179393.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323422.1 → XP_054179397.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323415.1 → XP_054179390.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323421.1 → XP_054179396.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4
XM_054323416.1 → XP_054179391.1 potassium voltage-gated channel subfamily G member 1 isoform X1

UniProtKB/Swiss-Prot

A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_172318.2: Suppressed sequence

Description

NM_172318.2: This RefSeq was temporarily suppressed because its source, BC006367.1, was from a cancerous cell line. The remaining transcript data that support this splice variant are of incomplete length.