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KCNH3 potassium voltage-gated channel subfamily H member 3 [ Homo sapiens (human) ]

Gene ID: 23416, updated on 18-Aug-2020

Summary

Official Symbol
KCNH3provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily H member 3provided by HGNC
Primary source
HGNC:HGNC:6252
See related
Ensembl:ENSG00000135519 MIM:604527
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
BEC1; ELK2; Kv12.2
Summary
The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
Expression
Biased expression in brain (RPKM 7.0), testis (RPKM 0.9) and 2 other tissues See more
Orthologs

Genomic context

See KCNH3 in Genome Data Viewer
Location:
12q13.12
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (49538541..49558337)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49932834..49952091)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C22 Neighboring gene spermatogenesis associated serine rich 2 Neighboring gene FGFR1 oncogene partner 2 pseudogene Neighboring gene uncharacterized LOC105369761 Neighboring gene microspherule protein 1 Neighboring gene family with sequence similarity 186 member B Neighboring gene RNA, U6 small nuclear 834, pseudogene Neighboring gene RNA polymerase II subunit K pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 binds to the C-terminus (amino acids 973-1083) of BEC1 in vitro and in living cells. Overexpression of BEC1 inhibits HIV-1 particle release from 293T cells. This requires the C-terminus of BEC1 PubMed

Go to the HIV-1, Human Interaction Database

General gene information

Markers

Homology

Clone Names

  • KIAA1282

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
potassium voltage-gated channel subfamily H member 3
Names
ELK channel 2
brain-specific eag-like channel 1
ether-a-go-go K(+) channel family member
ether-a-go-go-like potassium channel 2
potassium channel, voltage gated eag related subfamily H, member 3
potassium voltage-gated channel, subfamily H (eag-related), member 3
voltage-gated potassium channel subunit Kv12.2

NCBI Reference Sequences (RefSeq)

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_001314030.2NP_001300959.1  potassium voltage-gated channel subfamily H member 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the end of a 5' exon and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AB033108, AC020612, AW248597, BC144254
    UniProtKB/Swiss-Prot
    Q9ULD8
    Conserved Domains (4) summary
    smart00086
    Location:3675
    PAC; Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
    cd00038
    Location:522632
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:186451
    Ion_trans; Ion transport protein
    pfam07885
    Location:392446
    Ion_trans_2; Ion channel
  2. NM_012284.3NP_036416.1  potassium voltage-gated channel subfamily H member 3 isoform 1

    See identical proteins and their annotated locations for NP_036416.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB033108, AC020612, AW248597
    Consensus CDS
    CCDS8786.1
    UniProtKB/Swiss-Prot
    Q9ULD8
    Related
    ENSP00000257981.5, ENST00000257981.7
    Conserved Domains (5) summary
    cd00038
    Location:582692
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    cd00130
    Location:42133
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00520
    Location:246511
    Ion_trans; Ion transport protein
    pfam07885
    Location:452506
    Ion_trans_2; Ion channel
    pfam08447
    Location:42123
    PAS_3; PAS fold

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    49538541..49558337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538085.2XP_011536387.1  potassium voltage-gated channel subfamily H member 3 isoform X1

    Conserved Domains (5) summary
    cd00038
    Location:582692
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    cd00130
    Location:42133
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00520
    Location:246511
    Ion_trans; Ion transport protein
    pfam07885
    Location:452506
    Ion_trans_2; Ion channel
    pfam08447
    Location:42123
    PAS_3; PAS fold
  2. XM_011538086.2XP_011536388.1  potassium voltage-gated channel subfamily H member 3 isoform X2

    Conserved Domains (4) summary
    smart00086
    Location:3675
    PAC; Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
    cd00038
    Location:522632
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:186451
    Ion_trans; Ion transport protein
    pfam07885
    Location:392446
    Ion_trans_2; Ion channel
  3. XM_017019096.1XP_016874585.1  potassium voltage-gated channel subfamily H member 3 isoform X3

  4. XM_017019097.1XP_016874586.1  potassium voltage-gated channel subfamily H member 3 isoform X4

RNA

  1. XR_001748644.1 RNA Sequence

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