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FLASH GENE
Symbol KCNB1 contributors: mct - updated : 09-06-2015
HGNC name potassium voltage-gated channel, Shab-related subfamily, member 1
HGNC id 6231
Corresponding disease
EIEE26 epileptic encephalopathy, early infantile, 26
Location 20q13.13      Physical location : 47.988.504 - 48.099.181
Synonym name
  • delayed rectifier potassium channel Kv2.1
  • potassium channel protein DRK1
  • potassium voltage-gated channel subfamily B member 1
  • h-DRK1 K(+) channel
  • Synonym symbol(s) DRK1, KV2.1, h-DRK1, EIEE26, KV2.1, h-DRK1
    DNA
    TYPE functioning gene
    STRUCTURE 110.68 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    motif
    text structure alternative usage of two highly GC-rich promoters (P1, P2, P1 were mainly detected in brain, P2 transcripts were highly expressed in heart and brain)
    MAPPING cloned Y linked N status confirmed
    Physical map
    SULF2 20q12-q13.1 Homo sapiens similar to glucosamine-6-sulfatases (SULF2), mRNA. SRMP1 20q13.13 spermidine synthase pseudogene 1 LOC388798 20 LOC388798 PREX1 20q12-q13 LOC388798 ARFGEF2 20q13.13 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) SNAP23P 20 synaptosomal-associated protein, 23kDa pseudogene CSE1L 20q13 CSE1 chromosome segregation 1-like (yeast) STAU 20q13.1 staufen, RNA binding protein (Drosophila) ARPC3B 20q13.13 actin related protein 2/3 complex, subunit 3B, 21kDa DDX27 20q13.13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 KIAA1404 20q13.13 KIAA1404 protein KCNB1 20q13.1 potassium voltage-gated channel, Shab-related subfamily, member 1 PTGIS 20q13.1-q13.3 prostaglandin I2 (prostacyclin) synthase B4GALT5 20q13.1-q13.2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 SNRPFP1 20 small nuclear ribonucleoprotein polypeptide F pseudogene 1 SLC9A8 20q13.13 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8 SPATA2 20q13.1-q13.2 spermatogenesis associated 2 ZNF313 20q13.13 zinc finger protein 313 LOC391256 20 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) SNAI1 20q13.2 snail homolog 1 (Drosophila) LOC149738 20q13.13 hypothetical LOC149738 UBE2V1 20q13.2 ubiquitin-conjugating enzyme E2 variant 1 CEBPB 20q13.1 CCAAT/enhancer binding protein (C/EBP), beta COX6CP2 20 cytochrome c oxidase subunit VIc pseudogene 2 PTPN1 20q13.1-q13.2 protein tyrosine phosphatase, non-receptor type 1 LOC200230 20q13.13 similar to KIAA0386 C20orf175 20 chromosome 20 open reading frame 175 RPL36P2 20q13.1 ribosomal protein L36 pseudogene 2 PARD6B 20q13.13 par-6 partitioning defective 6 homolog beta (C. elegans) BCAS4 20q13.13-q13.2 breast carcinoma amplified sequence 4 TMSL6 20 thymosin-like 6 ADNP 20q13.3-q13.2 activity-dependent neuroprotector PSMD10P 20q13.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 pseudogene DPM1 20q13.13 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3756 95.7 858 - 2002 12060745
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreasislet of Langerhans    Homo sapiens
    Nervousbrainforebraincerebral cortex predominantly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
     nervecranial nerve  highly
    Visualeye   predominantly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • six putative membrane-spanning domains
  • an hydrophobic pore including the P domain with the K+ channel signature
  • flanked by TM domains 5 and 6, sensitive to changes in membrane potential
  • two phosphotyrosine sites, Y686 and Y810, in the cytoplasmic domains, crucial to regulating diverse aspects of KCNB1 channel function
  • conjugated PhosphoP
    mono polymer heteromer , complex
    HOMOLOGY
    interspecies homolog to rattus Kcnb1 (94.1pc)
    homolog to murine Kcnb1 (93.8pc)
    Homologene
    FAMILY
  • potassium channel family
  • B (Shab) subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
  • possible involvement in pituitary cell excitability and secretory activity regulated by osmolarity
  • regulates pancreatic beta-cell excitability and insulin secretion
  • a role of KCNB1 is to communicate membrane potential to cytoplasmic signaling systems much like L-type Ca2+ channels link plasma membrane potential to cytoplasmic sarcoplasmic reticulum Ca2+ release in skeletal muscle
  • important in the brain for determining activity-dependent excitability
  • in most central neurons, plays a key role in regulating neuronal membrane excitability
  • regulates insulin secretion in beta-cells and KCNB2 modulates somatostatin release in delta-cells
  • accumulation of KCNB1 oligomers in the membrane disrupts planar lipid raft integrity and causes apoptosis via activating the SRC/JNK signaling pathway
  • homeostatic suppression of elevated neuronal activity by KCNB1 plays potentially a central role in regulating neuronal network function
  • conducts a major delayed rectifier current in the brain, pancreas and cardiovascular system and is a key player in apoptotic programs associated with oxidative stress
  • primary delayed-rectifier K(+) channel in the mammalian brain, induces the formation of ER-plasma-membrane junctions
  • KCNB1-induced ER-plasma-membrane junctions functions as a scaffolding site for both membrane trafficking and Ca(2+) signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text ion transport
    PATHWAY
    metabolism
    signaling
    a component
  • heteromultimer with KCNG2, KCNG3, KCNG4, KCNS1, KCNS2, KCNS3 and KCNV2
  • mutations of His105 of KCNB1 disrupt heteromrization with KCNG3 and KCNG4
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TGFB1 enhances KCNB1 potassium channel protein expression and promotes maturation of cerebellar granule neurons
  • SUMO pathway regulates neuronal excitability via KCNB1 in a direct and graded manner
  • novel regulation of KCNB1 by GDF15 mediated through the TGFBR2-activated AKT1/MTOR pathway, which is a previously uncharacterized SMAD-independent mechanism of GDF15 signalling
  • novel role for neuronal CCNE1 in regulating the phosphorylation status and localization of KCNB1 channels, a likely component of signaling cascades leading to ischemic preconditioning
  • cell & other
    REGULATION
    inhibited by SUMOylation
    Other modulated by KCNS1
    physiological modulation of KCNB1 during glucose-induced insulin secretion by cellular metabolism including MgATP production and/or channel phosphorylation/dephosphorylation
    regulated through protein phosphatase-1 in response to increases in synaptic activity
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE26
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in certain types of cardiomyopathy
    Susceptibility
    Variant & Polymorphism SNP SNP rs756529 is associated with left ventricular hypertrophy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • pancreatic &
  • 946;-cells from Kv2.1(-/-) mice possess reduced Kv current and display greater glucose-stimulated insulin secretion (GSIS) relative to WT beta-cells