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KCNH8 potassium voltage-gated channel subfamily H member 8 [ Homo sapiens (human) ]

Gene ID: 131096, updated on 13-Mar-2020

Summary

Official Symbol
KCNH8provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily H member 8provided by HGNC
Primary source
HGNC:HGNC:18864
See related
Ensembl:ENSG00000183960 MIM:608260
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
ELK; ELK1; elk3; Kv12.1
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 H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 4.2), adrenal (RPKM 1.5) and 13 other tissues See more
Orthologs

Genomic context

See KCNH8 in Genome Data Viewer
Location:
3p24.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (19148510..19535642)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (19189946..19577135)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376978 Neighboring gene uncharacterized LOC107986066 Neighboring gene RNA, U6 small nuclear 138, pseudogene Neighboring gene uncharacterized LOC105376981 Neighboring gene microRNA 4791 Neighboring gene uncharacterized LOC105376982 Neighboring gene uncharacterized LOC105376984 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 18 Neighboring gene EF-hand domain family member B

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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 plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
potassium voltage-gated channel subfamily H member 8
Names
ELK channel 3
ether-a-go-go-like potassium channel 1
ether-a-go-go-like potassium channel 3
hElk1
potassium channel, voltage gated eag related subfamily H, member 8
potassium voltage-gated channel, subfamily H (eag-related), member 8
voltage-gated potassium channel subunit Kv12.1

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_144633.3NP_653234.2  potassium voltage-gated channel subfamily H member 8

    See identical proteins and their annotated locations for NP_653234.2

    Status: REVIEWED

    Source sequence(s)
    AC015542, AC061958, AC099538, AC116098, AC135452, AC138315
    Consensus CDS
    CCDS2632.1
    UniProtKB/Swiss-Prot
    Q96L42
    Related
    ENSP00000328813.2, ENST00000328405.7
    Conserved Domains (7) summary
    COG0664
    Location:548685
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:551662
    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:239481
    Ion_trans; Ion transport protein
    pfam06757
    Location:848899
    Ins_allergen_rp; Insect allergen related repeat, nitrile-specifier detoxification
    pfam07885
    Location:421475
    Ion_trans_2; Ion channel
    pfam13426
    Location:29135
    PAS_9; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    19148510..19535642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453342.1XP_024309110.1  potassium voltage-gated channel subfamily H member 8 isoform X5

    Conserved Domains (2) summary
    cd00038
    Location:12123
    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 ...
    pfam06757
    Location:309360
    Ins_allergen_rp; Insect allergen related repeat, nitrile-specifier detoxification
  2. XM_017005698.2XP_016861187.1  potassium voltage-gated channel subfamily H member 8 isoform X1

  3. XM_024453341.1XP_024309109.1  potassium voltage-gated channel subfamily H member 8 isoform X5

    Conserved Domains (2) summary
    cd00038
    Location:12123
    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 ...
    pfam06757
    Location:309360
    Ins_allergen_rp; Insect allergen related repeat, nitrile-specifier detoxification
  4. XM_017005700.2XP_016861189.1  potassium voltage-gated channel subfamily H member 8 isoform X3

  5. XM_017005702.1XP_016861191.1  potassium voltage-gated channel subfamily H member 8 isoform X5

    Conserved Domains (2) summary
    cd00038
    Location:12123
    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 ...
    pfam06757
    Location:309360
    Ins_allergen_rp; Insect allergen related repeat, nitrile-specifier detoxification
  6. XM_017005699.1XP_016861188.1  potassium voltage-gated channel subfamily H member 8 isoform X2

  7. XM_017005701.2XP_016861190.1  potassium voltage-gated channel subfamily H member 8 isoform X4

RNA

  1. XR_001740010.2 RNA Sequence

    Related
    ENST00000452398.5
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