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

Gene ID: 3755, updated on 11-Apr-2024

Summary

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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
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Genomic context

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Location:
20q13.13
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (51003656..51023107, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (52774233..52793754, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (49620193..49639644, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ADNP antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18108 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 1, catalytic Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49575528-49576138 Neighboring gene molybdenum cofactor synthesis 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49606180-49607142 Neighboring gene Sharpr-MPRA regulatory region 8647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49620535-49621036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49637285-49637848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:49651184-49652168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49674148-49674648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49693483-49693982 Neighboring gene NANOG hESC enhancer GRCh37_chr20:49703630-49704209 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:49709053-49710038 Neighboring gene uncharacterized LOC105372661 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:49735490-49736325 Neighboring gene uncharacterized LOC105372662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49737507-49738012 Neighboring gene ribosomal protein SA pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Isolation, characterization, and mapping of two human potassium channels. Su K, et al. Biochem Biophys Res Commun, 1997 Dec 29. PMID 9434767
  2. Kv2.1 and electrically silent Kv6.1 potassium channel subunits combine and express a novel current. Post MA, et al. FEBS Lett, 1996 Dec 9. PMID 8980147
  3. Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH). Kühnisch J, et al. Clin Oral Investig, 2014. PMID 23918034
  4. Mutation of histidine 105 in the T1 domain of the potassium channel Kv2.1 disrupts heteromerization with Kv6.3 and Kv6.4. Mederos Y Schnitzler M, et al. J Biol Chem, 2009 Feb 13. PMID 19074135
  5. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. Gutman GA, et al. Pharmacol Rev, 2005 Dec. PMID 16382104

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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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Markers

Homology

Clone Names

  • MGC12878

Gene Ontology Provided by GOA

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables potassium channel activity NAS
Non-traceable Author Statement
more info
 PubMed 
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 transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
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 delayed rectifier potassium channel activity 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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
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
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)

  1. NM_002237.4 → NP_002228.2  potassium voltage-gated channel subfamily G member 1

    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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    51003656..51023107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_047440142.1 → XP_047296098.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  3. 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

  4. XM_047440141.1 → XP_047296097.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  5. 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

  6. 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

  7. 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

  8. XM_047440143.1 → XP_047296099.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  9. 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

  10. 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

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    52774233..52793754 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  2. XM_054323420.1 → XP_054179395.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  3. XM_054323423.1 → XP_054179398.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  4. XM_054323424.1 → XP_054179399.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  5. XM_054323419.1 → XP_054179394.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  6. XM_054323418.1 → XP_054179393.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  7. XM_054323422.1 → XP_054179397.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  8. XM_054323415.1 → XP_054179390.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  9. XM_054323421.1 → XP_054179396.1  potassium voltage-gated channel subfamily G member 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K3S4, O43528, Q5JXL5, Q9BRC1, Q9UIX4

  10. 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

  1. 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UIX4.1 GenPept UniProtKB/Swiss-Prot:Q9UIX4

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