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KCNMA1 Gene

protein-coding   GIFtS: 67
GCID: GC10M078629

Potassium Large Conductance Calcium-Activated Channel, Subfamily...


(Previous symbol: SLO)
  See KCNMA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Large Conductance Calcium-Activated Channel, Subfamily M,
Alpha Member 11 2
     BKCA Alpha Subunit2
SLO1 2 3 5     Calcium-Activated Potassium Channel Subunit Alpha-12
BK Channel Alpha Subunit1 2     k(VCA)alpha2
Calcium-Activated Potassium Channel, Subfamily M Subunit Alpha-12 3     mSLO12
Slo Homolog2 3     Maxi-K Channel HSLO2
Slowpoke Homolog2 3     Stretch-Activated Kca Channel2
KCa1.12 3     K(VCA)alpha3
MaxiK2 3     KCNMA3
hSlo2 3     Slo-alpha3
BKTM2     Slo13
SAKCA2     BK Channel3
SLO-ALPHA2     BKCA Alpha3
SLO12     Maxi K Channel3
bA205K10.12     

External Ids:    HGNC: 62841   Entrez Gene: 37782   Ensembl: ENSG000001561137   OMIM: 6001505   UniProtKB: Q127913   

Export aliases for KCNMA1 gene to outside databases

Previous GC identifers: GC10M077593 GC10M077847 GC10M078530 GC10M077989 GC10M077983 GC10M078314 GC10M072624


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNMA1 Gene:
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to
the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the
pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular
calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript
variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNMA1 Gene:
KCNMA1 (potassium large conductance calcium-activated channel, subfamily M, alpha member 1) is a protein-coding gene. Diseases associated with KCNMA1 include paroxysmal dyskinesia, and generalized epilepsy and paroxysmal dyskinesia. GO annotations related to this gene include actin binding and calcium-activated potassium channel activity. An important paralog of this gene is KCNT1.

UniProtKB/Swiss-Prot: KCMA1_HUMAN, Q12791
Function: Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that
mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens
the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It
therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability
in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the
cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level
of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In
cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell
and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative
splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both
iberiotoxin (IbTx) and charybdotoxin (CTX)

summary for KCNMA1 Gene:
Ca2+-activated potassium channels (KCa) are a group of 6/7-TM ion channels that selectively transport K+
ions across biological membranes. They are broadly classified into three subtypes, SK, IK and BK channels,
based on their conductance (small, intermediate and big conductance respectively). The small conductance KCa
channels (KCa2.1, 2.2 and 2.3, also known as SK1, SK2 and SK3 respectively) and the intermediate conductance
KCa channel (KCa3.1, also known as SK4) are voltage-insensitive and are activated by Ca2+-calmodulin. Both
play important roles in many processes involving Ca2+-dependent signalling in both electrically excitable
and non-excitable cells. The BK family of KCa channels (also known as Slo or Maxi-K channels) are also
voltage-sensitive and include KCa1.1 (Slo1), KCa4.1 (Slo2.2), KCa4.2 (Slo2.1) and KCa5.1 (Slo3). These
channels do not require calmodulin for activation as they contain three direct bivalent cation binding
sites.

Gene Wiki entry for KCNMA1 (Potassium large conductance calcium-activated channel, subfamily M, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNMA1 gene promoter:
         CREB   AhR   AP-1   deltaCREB   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNMA1 promoter sequence
   Search Chromatin IP Primers for KCNMA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNMA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22.3   Ensembl cytogenetic band:  10q22.3   HGNC cytogenetic band: 10q22

KCNMA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNMA1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M078629:  view genomic region     (about GC identifiers)

Start:
78,629,359 bp from pter      End:
79,398,353 bp from pter
Size:
768,995 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KCMA1_HUMAN, Q12791 (See protein sequence)
Recommended Name: Calcium-activated potassium channel subunit alpha-1  
Size: 1236 amino acids; 137560 Da
Subunit: Homotetramer; which constitutes the calcium-activated potassium channel. Interacts with RAB11B (By
similarity). Interacts with beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4. Interacts with gamma subunits
LRRC26, LRRC38, LRRC52 and LRRC55. Beta and gamma subunits are accessory, and modulate its activity
Miscellaneous: The protein was initially thought to contain two functionally distinct parts: The core channel
(from the N-terminus to the S9 segment) that mediates the channel activity, and the cytoplasmic tail (from the S9
segment to the C-terminus) that mediates the calcium sensing. The situation is however more complex, since the
core channel also contains binding sites for Ca(2+) and Mg(2+)
Sequence caution: Sequence=AAA50216.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part; Sequence=AAB65837.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=AAC50353.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAK91504.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD06365.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for KCNMA1:
2K44 (3D)        3MT5 (3D)        3NAF (3D)    
Secondary accessions: F8WA96 Q12886 Q12917 Q12921 Q12960 Q13150 Q5JQ23 Q5SQR9 Q96LG8 Q9UBB0
Q9UCX0 Q9UQK6
Alternative splicing: 7 isoforms:  Q12791-1   Q12791-2   Q12791-3   Q12791-4   Q12791-5   Q12791-6   Q12791-7   (Ref.13 (no nucleotide entry) sequence is in conflict in positions: 726-727:SF->FS)

Explore the universe of human proteins at neXtProt for KCNMA1: NX_Q12791

Explore proteomics data for KCNMA1 at MOPED

Post-translational modifications: 

  • Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles, phosphorylation
    affects its activity1
  • Palmitoylation by ZDHHC22 and ZDHHC23 within the intracellular linker between the S0 and S1 transmembrane domains
    regulates localization to the plasma membrane. Depalmitoylated by LYPLA1 and LYPLAL1, leading to retard exit from
    the trans-Golgi network1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNMA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (9 alternative transcripts): 
    NP_001014797.1  NP_001154824.1  NP_001154825.1  NP_001258447.1  NP_001258448.1  NP_002238.2  NP_001258449.1  NP_001258450.1  
    NP_001258451.1  

    ENSEMBL proteins: 
     ENSP00000473714   ENSP00000361514   ENSP00000361485   ENSP00000361498   ENSP00000396608  
     ENSP00000385717   ENSP00000361517   ENSP00000361520   ENSP00000361480   ENSP00000402150  
     ENSP00000286628   ENSP00000286627   ENSP00000388370   ENSP00000402254   ENSP00000475086  
     ENSP00000474686   ENSP00000385552   ENSP00000346321   ENSP00000385806  
    Reactome Protein details: Q12791

    KCNMA1 Human Recombinant Protein Products:

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    antibodies-online peptides for KCNMA1

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    antibodies-online kits for KCNMA1 (17 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KCN: Potassium channels
    KCa: Voltage-gated ion channels / Potassium channels, calcium-activated

    IUPHAR Guide to PHARMACOLOGY protein family classification: KCa1.1
    Calcium-activated potassium channels

    Selected InterPro protein domains (see all 6):
     IPR024939 Ca-act_K_channel_Slo
     IPR005821 Ion_trans_dom
     IPR003148 RCK_N
     IPR003091 K_chnl
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q12791

    ProtoNet protein and cluster: Q12791

    2 Blocks protein domains:
    IPB002052 N-6 Adenine-specific DNA methylase
    IPB003929 Calcium-activated BK potassium channel alpha subunit signature


    UniProtKB/Swiss-Prot: KCMA1_HUMAN, Q12791
    Domain: The S0 segment is essential for the modulation by the accessory beta subunits KCNMB1, KCNMB2, KCNMB3 and
    KCNMB4
    Domain: The S4 segment, which is characterized by a series of positively charged amino acids at every third
    position, is part of the voltage-sensor
    Domain: The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the
    selectivity filter of the pore. It contains the signature sequence of potassium channels that displays
    selectivity to potassium
    Domain: The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers
    into functional potassium channel. It includes binding sites for Ca(2+) and Mg(2+) (By similarity)
    Domain: The calcium bowl constitutes one of the Ca(2+) sensors and probably acts as a Ca(2+)-binding site. There
    are however other Ca(2+) sensors regions required for activation of the channel
    Domain: The heme-binding motif mediates inhibition of channel activation by heme. Carbon monoxide-bound heme leads
    to increased channel activation
    Similarity: Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa1.1/KCNMA1
    sub-subfamily
    Similarity: Contains 1 RCK N-terminal domain


    Find genes that share domains with KCNMA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCMA1_HUMAN, Q12791
    Function: Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that
    mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens
    the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It
    therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability
    in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the
    cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level
    of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In
    cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell
    and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative
    splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both
    iberiotoxin (IbTx) and charybdotoxin (CTX)
    Enzyme regulation: Ethanol and carbon monoxide-bound heme increase channel activation. Heme inhibits channel
    activation

         Genatlas biochemistry entry for KCNMA1:
    potassium non voltage-gated,large conductance calcium activated channel Maxik,fundamental in the control of smooth
    muscle tone and neuronal excitability,pore forming alpha member 1,Drosophila slowpoke homolog,expressed in smooth
    muscle tissues like small intestine,colon,uterus,aorta

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA15703204
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity IDA11880513
    GO:0005267potassium channel activity ----
    GO:0005515protein binding IPI10692449
         
    Find genes that share ontologies with KCNMA1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNMA1:
     Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcnma1):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size/body 
     hearing/vestibular/ear  mortality/aging  muscle  nervous system  renal/urinary system 
     reproductive system 

    Find genes that share phenotypes with KCNMA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for KCNMA1: Kcnma1tm1Ruth Kcnma1tm1Rwa

       genOway: Develop your customized and physiologically relevant rodent model for KCNMA1

    miRNA
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    miRTarBase miRNAs that target KCNMA1:
    hsa-mir-211-5p (MIRT005943)

    Block miRNA regulation of human, mouse, rat KCNMA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNMA1 (see all 101):
    hsa-miR-582-3p hsa-miR-26a-2* hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-485-3p hsa-miR-3138 hsa-miR-3921
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCMA1_HUMAN, Q12791: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    cytoskeleton1
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane TAS--
    GO:0005901caveola IDA15703204
    GO:0008076voltage-gated potassium channel complex IDA7573516

    Find genes that share ontologies with KCNMA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNMA1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    2Insulin secretion
    Insulin secretion0.36
    Ca2+ activated K+ channels0.00
    3Nitric oxide stimulates guanylate cyclase
    Nitric oxide stimulates guanylate cyclase
    cGMP effects0.00
    4Transmission across Chemical Synapses
    Neuronal System0.68
    5Hemostasis
    Hemostasis0.43


    Find genes that share SuperPaths with KCNMA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for KCNMA1
        Ca2+ activated K+ channels
    cGMP effects


    4 Kegg Pathways  (Kegg details for KCNMA1):
        Vascular smooth muscle contraction
    Insulin secretion
    Salivary secretion
    Pancreatic secretion

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNMA1: 
              Hypertension in human mouse rat
              Neuronal Ion Channels in human mouse rat
              Circadian Rhythms in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNMA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNMA1 (Q127913 ENSP000002866274) via UniProtKB, MINT, STRING, and/or I2D (see all 224)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    ENSG00000227739P074373I2D: score=1 
    ENSG00000229684P074373I2D: score=1 
    ENSG00000232421P074373I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA15528406
    GO:0006811ion transport ----
    GO:0006813potassium ion transport IDA11245614
    GO:0006970response to osmotic stress IDA10840032
    GO:0007268synaptic transmission TAS--

    Find genes that share ontologies with KCNMA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for KCNMA1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PaxillineSERCA ATPase blocker. Also potent BKCa channel blocker[57186-25-1]
    TRAM 34Highly selective KCa3.1 channel blocker[289905-88-0]
    CyPPAActivator of KCa2.2 and KCa2.3 channels[73029-73-9]
    ApaminKCa2 channel blocker (small conductance)[24345-16-2]
    IberiotoxinKCa channel blocker (big conductance)[129203-60-7]

    5 HMDB Compounds for KCNMA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Carbon monoxideCarbon monoxide (see all 2)124-38-9--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Hydrochlorothiazide3,4-Dihydrochlorothiazide (see all 89)58-93-5--
    PotassiumK+ (see all 16)7440-09-7--

    9 DrugBank Compounds for KCNMA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ChlorzoxazoneChloroxazone (see all 3)95-25-0target--10712246 20505091 16859676
    Diazoxide-- 364-98-7targetother2541731 16446048 12726817
    Cromoglicic acidAcide Cromoglicique [INN-French] (see all 7)16110-51-3targetinhibitor17139284 17016423
    EnfluraneAnesthetic 347 (see all 7)13838-16-9targetinhibitor10794813 1446749
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7targetinhibitor10794813 10592235
    HydroflumethiazideDihydroflumethazide (see all 6)135-09-1targetother/unknown17139284 17016423
    Miconazole-- 22916-47-8targetinhibitor8760033 1376313
    BendroflumethiazideBendrofluazide (see all 9)73-48-3targetinducer14766795
    HydrochlorothiazideDihydrochlorothiazid (see all 10)58-93-5targetother/unknown14766795

    9 IUPHAR Ligands for KCNMA1 (KCa1.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    slotoxin
    Pore BlockerAntagonist8.811576530
    BMS204352
    ActivatorNone6.511283675
    NS1643
    ActivatorAgonist5.24 - 5.688938721
    17beta-estradiol
    ActivatorNone5.610489376
    iberiotoxin
    InhibitorNone5.6--
    tetraethylammonium
    InhibitorNone5.6--
    NS1619
    ActivatorNone5.6--
    NS004
    ActivatorNone5.6--
    charybdotoxin
    InhibitorNone5.6--

    Selected Novoseek inferred chemical compound relationships for KCNMA1 gene (see all 92)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iberiotoxin 93.6 58 12807996 (3), 16817201 (2), 14569058 (2), 16527820 (2) (see all 43)
    potassium 85.8 55 17151195 (3), 10196543 (2), 15649626 (2), 9687354 (2) (see all 44)
    paxilline 85.7 10 19068078 (2), 18445052 (1), 16817201 (1), 19778436 (1) (see all 9)
    charybdotoxin 85.4 45 19499912 (4), 7545007 (3), 9053774 (2), 9002422 (2) (see all 23)
    maxipost 83.9 3 18473808 (1), 12636425 (1), 15100177 (1)
    ns 1619 83 8 12962728 (2), 17359538 (2), 18706395 (1), 8137869 (1) (see all 6)
    tetraethylammonium 81 31 1698974 (3), 9374660 (2), 15867133 (2), 14557280 (1) (see all 19)
    apamin 73.5 8 9002422 (2), 15746700 (1), 1560367 (1), 12793981 (1) (see all 7)
    pimaric acid 73.1 5 12237330 (2), 17318194 (2)
    calcium 69.4 268 12405981 (5), 19096717 (5), 8386529 (4), 19778436 (4) (see all 99)



    Find genes that share compounds with KCNMA1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for KCNMA1 gene (9 alternative transcripts): 
    NM_001014797.2  NM_001161352.1  NM_001161353.1  NM_001271518.1  NM_001271519.1  NM_002247.3  NM_001271520.1  NM_001271521.1  
    NM_001271522.1  

    Unigene Cluster for KCNMA1:

    Potassium large conductance calcium-activated channel, subfamily M, alpha member 1
    Hs.144795  [show with all ESTs]
    Unigene Representative Sequence: NM_001014797
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000604624 ENST00000372437 ENST00000372408(uc001jxk.1 uc009xrt.1)
    ENST00000372421 ENST00000457953 ENST00000404771 ENST00000372440 ENST00000372443(uc001jxj.2 uc021ptu.1)
    ENST00000372403 ENST00000434208(uc001jxl.1) ENST00000286628 ENST00000286627(uc001jxo.3 uc001jxn.3 uc001jxm.3 uc001jxq.3)
    ENST00000468471 ENST00000475352 ENST00000450795 ENST00000428546 ENST00000484507
    ENST00000484343
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KCNMA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNMA1 (see all 101):
    hsa-miR-582-3p hsa-miR-26a-2* hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-485-3p hsa-miR-3138 hsa-miR-3921
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    Additional mRNA sequence: 

    AB113382.1 AB113575.1 AB209488.1 AB524033.1 AF025999.1 AF118141.1 AF349445.1 AK024857.1 
    AK055362.1 AK124355.1 AK128392.1 AK310379.1 AY040849.1 AY445624.1 BC009695.1 BC024965.1 
    BC062659.1 BC137115.1 BC137137.1 BC144496.1 BX648925.1 CR627384.1 U02632.1 U11058.2 
    U11717.1 U13913.1 U23767.1 

    23 DOTS entries:

    DT.453941  DT.101979677  DT.86855756  DT.87014905  DT.100671940  DT.97825317  DT.95168596  DT.100662664 
    DT.102843455  DT.97768238  DT.102843456  DT.121231376  DT.121231461  DT.40112863  DT.97798446  DT.102843460 
    DT.40241280  DT.91765337  DT.91944601  DT.95168595  DT.97783626  DT.312503  DT.86855833 

    Selected AceView cDNA sequences (see all 199):

    AI147610 AW068320 AA719180 AK128392 AK124355 AI335943 AB113382 BU727321 
    AA251861 BM128429 BC009695 BG198117 AI298419 AA137034 AF025999 AF118141 
    CK820040 AW444947 BG204095 U11058 BM997062 BG195833 BE219872 BQ188847 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KCNMA1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:        -     -     -           -           -                       -                                   -     -                                   -         
    SP2:                                                                                                                                                  -         
    SP3:                                -                                                                                                                           
    SP4:                                            -                                                                                                               
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34
    SP1:              -                                                               
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for KCNMA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    KCNMA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTAGCCAC
    KCNMA1 Expression
    About this image


    KCNMA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Mature Granulosa Cells Antral Follicle
     
     Neurons
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Skeletal Muscle (Muscoskeletal System)
    KCNMA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNMA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.144795

    UniProtKB/Swiss-Prot: KCMA1_HUMAN, Q12791
    Tissue specificity: Widely expressed. Except in myocytes, it is almost ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNMA1: 
              Hypertension in human mouse rat
              Neuronal Ion Channels in human mouse rat
              Circadian Rhythms in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCNMA1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnma11 , 5 potassium large conductance calcium-activated channel, more1, 5 93.58(n)1
    99.43(a)1
      14 (12.92 cM)5
    165311  NM_001253364.11  NP_001240293.11 
     232894315 
    chicken
    (Gallus gallus)
    Aves KCNMA11 potassium large conductance calcium-activated channel, more 85.68(n)
    94.98(a)
      374065  NM_204224.1  NP_989555.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNMA16
    potassium large conductance calcium-activated chan...
    84(a)
    1 ↔ 1
    GL343196.1(4382572-4905918)
    African clawed frog
    (Xenopus laevis)
    Amphibia kcnma1-A2 potassium large conductance calcium-activated channel, more 78.15(n)    AF274053.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnma1a1 potassium large conductance calcium-activated channel, more 81.26(n)
    92.54(a)
      568554  NM_001145600.1  NP_001139072.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta slo1 , 3 male courtship behavior (sensu
    Drosophila), song more3
    slowpoke1
    61(a)3
    60.02(n)1
    61.81(a)1
      429401  NM_001014652.31  NP_001014652.11 
    worm
    (Caenorhabditis elegans)
    Secernentea slo-11 slo-1 58.02(n)
    59.53(a)
      180203  NM_001029088.1  NP_001024259.1 


    ENSEMBL Gene Tree for KCNMA1 (if available)
    TreeFam Gene Tree for KCNMA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNMA1 gene
    KCNT12  KCNT22  KCNU12  
    2 SIMAP similar genes for KCNMA1 using alignment to 17 protein entries:     KCMA1_HUMAN (see all proteins):
    DKFZp781N1049    KCNU1

    Find genes that share paralogs with KCNMA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNMA1 (see all 15899)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0238214
    Generalized epilepsy and paroxysmal dyskinesia (GEPD)4--see VAR_0238212 D G mis40--------
    rs1439580061,2
    Cuntested179020985(+) TTGTCA/C/GCGGGA 12 R syn11NA 4552
    rs1995133901,2
    C--72628752(+) TTGAAA/CCAAAA 2 -- ut310--------
    rs1446876201,2
    C--72628761(+) AAAAA-/AAAC  
            
    AACAA
    2 -- ut310--------
    rs21637971,2
    C,F--72673645(-) TATATG/ATGTGT 6 -- int15Minor allele frequency- A:0.44NA WA CSA 9
    rs110019361,2
    C--72682999(+) CGCGCA/GCACAC 6 -- int12Minor allele frequency- G:0.00NA 4
    rs105589501,2
    C--72683018(+) ACACA-/CA    
       CG
    /CG
    CACAT
    6 -- int12NA CSA 4
    rs1426959771,2
    C--72692810(+) GATGG-/TCCT  
            
    TATAC
    6 -- int10--------
    rs3745339631,2
    C--72695945(+) GGGAA-/GGGAAG 6 -- int10--------
    rs342768401,2
    C--72700586(+) TATGT-/AAAAAA 6 -- int11Minor allele frequency- A:0.00CSA 2

    HapMap Linkage Disequilibrium report for KCNMA1 (78629359 - 78879359 bp, first 250kb of KCNMA1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNMA1 (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv999915CNV Deletion20482838
    esv2738507CNV Deletion23290073
    esv2738474CNV Deletion23290073
    esv2738496CNV Deletion23290073
    esv2117658CNV Deletion18987734
    esv2738485CNV Deletion23290073
    esv1199417CNV Deletion17803354
    esv2372613CNV Deletion18987734
    esv2546728CNV Deletion19546169
    esv2738518CNV Deletion23290073

    Human Gene Mutation Database (HGMD): KCNMA1
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing KCNMA1:
    Prostate Cancer
    SeqTarget long-range PCR primers for resequencing KCNMA1
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNMA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600150   
    OMIM disorders: 609446  
    UniProtKB/Swiss-Prot: KCMA1_HUMAN, Q12791
  • Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446]: Epilepsy is one of the most common
    and debilitating neurological disorders. Paroxysmal dyskinesias are neurological disorders characterized by
    sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. The
    coexistence of epilepsy and paroxysmal dyskinesia in the same individual or family is an increasingly recognized
    phenomenon. Patients manifest absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic
    dyskinesia, involuntary dystonic or choreiform movements. Onset is usually in childhood and patients may have
    seizures only, dyskinesia only, or both. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 3 diseases for KCNMA1:    
    About MalaCards
    paroxysmal dyskinesia    generalized epilepsy and paroxysmal dyskinesia    impotence


    Find genes that share disorders with KCNMA1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KCNMA1 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paroxysmal dyskinesias 62.5 4 15937479 (3), 19204046 (1)
    erectile dysfunction 42.3 8 12879112 (1), 15964135 (1), 17402321 (1), 17134370 (1) (see all 5)
    diastolic hypertension 31.8 1 15057299 (1)
    overactive bladder 26.3 2 19812367 (1), 19447431 (1)
    glioma 26.1 32 11880513 (4), 12739163 (4), 12007141 (3), 17318194 (3) (see all 11)
    cholera 6.11 5 8752494 (1), 16107501 (1), 8606361 (1)
    osteosarcoma 5.38 2 12009018 (1), 14584897 (1)
    cardiovascular diseases 5.11 1 19749161 (1)
    breast cancer 3.03 6 19640305 (4), 15893312 (1), 17164406 (1)
    tumors 1.54 16 19074007 (2), 17359538 (2), 19247476 (1), 17624594 (1) (see all 10)

    Genetic Association Database (GAD): KCNMA1
    Human Genome Epidemiology (HuGE) Navigator: KCNMA1 (6 documents)

    Export disorders for KCNMA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for KCNMA1 gene, integrated from 10 sources (see all 503):
    (articles sorted by number of sources associating them with KCNMA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke. (PubMed id 7987297)1, 2, 3 Pallanck L. and Ganetzky B. (Hum. Mol. Genet. 1994)
    2. Cloning and characterization of glioma BK, a novel BK channel isoform highly expressed in human glioma cells. (PubMed id 11880513)1, 2, 9 Liu X.... Chang Y. (J. Neurosci. 2002)
    3. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. (PubMed id 15937479)1, 2, 9 Du W.... Wang Q.K. (Nat. Genet. 2005)
    4. Cloning and expression of a human large-conductance calcium-activated potassium channel. (PubMed id 7877450)1, 2, 9 Dworetzky S.I.... Gribkoff V.K. (Brain Res. Mol. Brain Res. 1994)
    5. Genome wide association study identifies KCNMA1 contributing to human obesity. (PubMed id 21708048)1, 4 Jiao H....Dahlman I. (BMC Med Genomics 2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Structure of the human BK channel Ca2+-activation apparatus at 3.0 A resolution. (PubMed id 20508092)1, 2 Yuan P.... MacKinnon R. (Science 2010)
    8. Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. (PubMed id 20400778)1, 4 Morrison A.C....Smith N.L. (Circ Cardiovasc Genet 2010)
    9. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    10. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3778 HGNC: 6284 AceView: KCNMA1 Ensembl:ENSG00000156113 euGenes: HUgn3778
    ECgene: KCNMA1 Kegg: 3778 H-InvDB: KCNMA1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KCNMA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNMA1 gene:
    Search GeneIP for patents involving KCNMA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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