Human Gene GALNT8 (uc001qng.3)
  Description: Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (GALNT8), mRNA.
RefSeq Summary (NM_002235): Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr12:4,918,342-4,960,278 Size: 41,937 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr12:4,919,208-4,920,797 Size: 1,590 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsGene Alleles
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:4,918,342-4,960,278)mRNA (may differ from genome)Protein (529 aa)
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neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCNA6_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily A member 6; AltName: Full=Voltage-gated potassium channel HBK2; AltName: Full=Voltage-gated potassium channel subunit Kv1.6;
FUNCTION: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.
SUBUNIT: Heterotetramer of potassium channel proteins (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DOMAIN: The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
SIMILARITY: Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.6/KCNA6 sub-subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GALNT8
CDC HuGE Published Literature: GALNT8

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -466.20866-0.538 Picture PostScript Text
3' UTR -1236.933522-0.351 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR005821 - Ion_trans_dom
IPR003091 - K_chnl
IPR003968 - K_chnl_volt-dep_Kv
IPR003972 - K_chnl_volt-dep_Kv1
IPR004053 - K_chnl_volt-dep_Kv1.6
IPR003131 - T1-type_BTB

Pfam Domains:
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain
PF07885 - Ion channel

SCOP Domains:
54695 - POZ domain
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on P17658
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0034765 regulation of ion transmembrane transport
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0034705 potassium channel complex
GO:0043679 axon terminus


-  Descriptions from all associated GenBank mRNAs
  X17622 - Human HBK2 mRNA for potassium channel protein.
JD450435 - Sequence 431459 from Patent EP1572962.
JD151885 - Sequence 132909 from Patent EP1572962.
JD090556 - Sequence 71580 from Patent EP1572962.
JD277384 - Sequence 258408 from Patent EP1572962.
JD156854 - Sequence 137878 from Patent EP1572962.
JD469153 - Sequence 450177 from Patent EP1572962.
JD187652 - Sequence 168676 from Patent EP1572962.
JD460630 - Sequence 441654 from Patent EP1572962.
JD481502 - Sequence 462526 from Patent EP1572962.
JD336435 - Sequence 317459 from Patent EP1572962.
JD387682 - Sequence 368706 from Patent EP1572962.
JD057549 - Sequence 38573 from Patent EP1572962.
BC069355 - Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6, mRNA (cDNA clone MGC:97136 IMAGE:7262373), complete cds.
CU686765 - Synthetic construct Homo sapiens gateway clone IMAGE:100022660 5' read KCNA6 mRNA.
HQ447440 - Synthetic construct Homo sapiens clone IMAGE:100070768; CCSB013954_02 potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6) gene, encodes complete protein.
KJ891497 - Synthetic construct Homo sapiens clone ccsbBroadEn_00891 KCNA6 gene, encodes complete protein.
JD270603 - Sequence 251627 from Patent EP1572962.
JD196762 - Sequence 177786 from Patent EP1572962.
JD429533 - Sequence 410557 from Patent EP1572962.
JD521588 - Sequence 502612 from Patent EP1572962.
JD047825 - Sequence 28849 from Patent EP1572962.
JD554157 - Sequence 535181 from Patent EP1572962.
JD336905 - Sequence 317929 from Patent EP1572962.
JD378105 - Sequence 359129 from Patent EP1572962.
JD158084 - Sequence 139108 from Patent EP1572962.
JD549590 - Sequence 530614 from Patent EP1572962.
JD488981 - Sequence 470005 from Patent EP1572962.
JD411405 - Sequence 392429 from Patent EP1572962.
JD263004 - Sequence 244028 from Patent EP1572962.
JD421023 - Sequence 402047 from Patent EP1572962.
JD308739 - Sequence 289763 from Patent EP1572962.
JD060383 - Sequence 41407 from Patent EP1572962.
JD157853 - Sequence 138877 from Patent EP1572962.
JD214369 - Sequence 195393 from Patent EP1572962.
JD040767 - Sequence 21791 from Patent EP1572962.
JD053909 - Sequence 34933 from Patent EP1572962.
JD379002 - Sequence 360026 from Patent EP1572962.
JD359432 - Sequence 340456 from Patent EP1572962.
JD101594 - Sequence 82618 from Patent EP1572962.
JD367767 - Sequence 348791 from Patent EP1572962.
JD456661 - Sequence 437685 from Patent EP1572962.
JD501938 - Sequence 482962 from Patent EP1572962.
JD177860 - Sequence 158884 from Patent EP1572962.
JD559693 - Sequence 540717 from Patent EP1572962.
JD048171 - Sequence 29195 from Patent EP1572962.
JD352854 - Sequence 333878 from Patent EP1572962.
JD219531 - Sequence 200555 from Patent EP1572962.
JD098716 - Sequence 79740 from Patent EP1572962.
JD356080 - Sequence 337104 from Patent EP1572962.
JD172070 - Sequence 153094 from Patent EP1572962.
JD314305 - Sequence 295329 from Patent EP1572962.
AK057863 - Homo sapiens cDNA FLJ25134 fis, clone CBR06934.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P17658 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: KCNA6, KCNA6_HUMAN, NM_002235, NP_002226, P17658
UCSC ID: uc001qng.3
RefSeq Accession: NM_002235
Protein: P17658 (aka KCNA6_HUMAN or CIK6_HUMAN)
CCDS: CCDS8534.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: yes RNA accession: NM_002235.3
exon count: 2CDS single in 3' UTR: no RNA size: 5982
ORF size: 1590CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2806.00frame shift in genome: no % Coverage: 99.93
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.