Human Gene KCNAB1 (uc011bon.1)
  Description: Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.
RefSeq Summary (NM_172160): 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 includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015].
Transcript (Including UTRs)
   Position: hg19 chr3:155,838,337-156,256,927 Size: 418,591 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr3:155,838,401-156,254,536 Size: 416,136 Coding Exon Count: 13 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:155,838,337-156,256,927)mRNA (may differ from genome)Protein (390 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHuman Cortex Gene ExpressionLynxMalacards
MGIOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  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): KCNAB1
CDC HuGE Published Literature: KCNAB1
Positive Disease Associations: Aging , Aging traits , Waist-Hip Ratio
Related Studies:
  1. Aging
    Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics. [PubMed 17903295]
    Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.
  2. Aging traits
    Lunetta ,et al. 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study, BMC medical genetics 2007 8 Suppl 1 : S13. [PubMed 17903295]
    Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip.
  3. Waist-Hip Ratio
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: KCNAB1
Diseases sorted by gene-association score: episodic ataxia (10), epilepsy, familial temporal lobe, 3 (10), episodic ataxia/myokymia syndrome (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.92 RPKM in Artery - Tibial
Total median expression: 227.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  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 -6.7064-0.105 Picture PostScript Text
3' UTR -595.662391-0.249 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
IPR001395 - Aldo/ket_red
IPR005399 - K_chnl_volt-dep_bsu_KCNAB-rel
IPR005400 - K_chnl_volt-dep_bsu_KCNAB1
IPR023210 - NADP_OxRdtase_dom

Pfam Domains:
PF00248 - Aldo/keto reductase family

SCOP Domains:
51430 - NAD(P)-linked oxidoreductase

ModBase Predicted Comparative 3D Structure on B7Z8E5
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 Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006813 potassium ion transport
GO:0055085 transmembrane transport

Cellular Component:
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  L47665 - Homo sapiens K+ channel beta-subunit (Kvb1.3) mRNA, complete cds.
AK292693 - Homo sapiens cDNA FLJ76959 complete cds, highly similar to Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.
AK303287 - Homo sapiens cDNA FLJ59247 complete cds, highly similar to Voltage-gated potassium channel subunit beta-1.
AK292999 - Homo sapiens cDNA FLJ75026 complete cds, highly similar to Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 2, mRNA.
L39833 - Homo sapiens (clone hKvBeta3) K+ channel beta subunit mRNA, complete cds.
U16953 - Human potassium channel beta3 subunit mRNA, complete cds.
KJ897791 - Synthetic construct Homo sapiens clone ccsbBroadEn_07185 KCNAB1 gene, encodes complete protein.
BC043166 - Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1, mRNA (cDNA clone MGC:44147 IMAGE:5286833), complete cds.
AK127240 - Homo sapiens cDNA FLJ45307 fis, clone BRHIP3004416, highly similar to Voltage-gated potassium channel subunit beta-1.
AK057059 - Homo sapiens cDNA FLJ32497 fis, clone SKNSH2000250, highly similar to Voltage-gated potassium channel subunit beta-1.
X83127 - H.sapiens mRNA for voltage gated potassium channels, beta subunit.
U33428 - Human K+ channel beta 1a subunit mRNA, alternatively spliced, complete cds.
HQ448541 - Synthetic construct Homo sapiens clone IMAGE:100071976; CCSB010548_01 potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1) gene, encodes complete protein.
AY780786 - Homo sapiens potassium voltage-gated channel beta subunit (KCNAB1) mRNA, complete cds, alternatively spliced.
AK296728 - Homo sapiens cDNA FLJ52197 complete cds, highly similar to Voltage-gated potassium channel subunit beta-1.
U17968 - Human voltage-gated potassium channel beta subunit mRNA, partial cds.
CU692144 - Synthetic construct Homo sapiens gateway clone IMAGE:100020873 5' read KCNAB1 mRNA.
JD203867 - Sequence 184891 from Patent EP1572962.
JD068524 - Sequence 49548 from Patent EP1572962.
JD094978 - Sequence 76002 from Patent EP1572962.
JD283178 - Sequence 264202 from Patent EP1572962.
JD188443 - Sequence 169467 from Patent EP1572962.
JD245608 - Sequence 226632 from Patent EP1572962.
JD244562 - Sequence 225586 from Patent EP1572962.
JD348780 - Sequence 329804 from Patent EP1572962.
JD235189 - Sequence 216213 from Patent EP1572962.
JD044663 - Sequence 25687 from Patent EP1572962.
JD248908 - Sequence 229932 from Patent EP1572962.
JD284937 - Sequence 265961 from Patent EP1572962.
JD330021 - Sequence 311045 from Patent EP1572962.
JD510634 - Sequence 491658 from Patent EP1572962.
JD206320 - Sequence 187344 from Patent EP1572962.
JD421367 - Sequence 402391 from Patent EP1572962.
JD360341 - Sequence 341365 from Patent EP1572962.
JD281146 - Sequence 262170 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK303287, B7Z8E5, B7Z8E5_HUMAN, NM_172160, NP_751892
UCSC ID: uc011bon.1
RefSeq Accession: NM_172160
Protein: B7Z8E5

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK303287.1
exon count: 13CDS single in 3' UTR: no RNA size: 1805
ORF size: 1173CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2532.50frame shift in genome: no % Coverage: 100.00
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.