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

    Gene ID: 3755, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See KCNG1 in Genome Data Viewer
    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_000020.11Genomic 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 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 (23) 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 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 
    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)

    1. 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

    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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