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KCNMA1 Gene

protein-coding   GIFtS: 63

GC10M078314
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SLO)
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Aliases &
Descriptions
for KCNMA1

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
BKTM 2
DKFZp686K1437 2
K(VCA)alpha 3
KCNMA 3
KCa1.1 1, 2, 3
MGC71881 2
MaxiK 2, 3
OTTHUMP00000019904 2
OTTHUMP00000060198 2
OTTHUMP00000064154 2
OTTHUMP00000064155 2
OTTHUMP00000064156 2
OTTHUMP00000064157 2
OTTHUMP00000064158 2
OTTHUMP00000064159 2
OTTHUMP00000064160 2
OTTHUMP00000064161 2
OTTHUMP00000064162 2
OTTHUMP00000064164 2
OTTHUMP00000064165 2
SAKCA 2
SLO 2, 3, 5
SLO-ALPHA 2
SLO1 2
Slo-alpha 3
Slo1 3
bA205K10.1 2
hSlo 3
mSLO1 1, 2
Descriptions
BK channel 3
BKCA alpha 3
BKCA alpha subunit 2
Calcium-activated potassium channel, subfamily M subunit
alpha-1 3
Drosophila slowpoke-like 2
Maxi K channel 3
Slo homolog 3
Slowpoke homolog 3
large conductance calcium-activated potassium channel
subfamily M alpha member 1 2
potassium large conductance calcium-activated channel,
subfamily M, alpha member 1 2
stretch-activated Kca channel 2
External Ids
HGNC: 62841
Entrez Gene: 37782
UniProtKB: Q127913
Ensembl: ENSG000001561137
Search outside databases for aliases for KCNMA1 gene

Previous GC identifers: GC10M077593 GC10M077847 GC10M078530 GC10M077989 GC10M077983

Summaries
for KCNMA1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for KCNMA1:
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]

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)

Gene Wiki entry for KCNMA1 (Potassium_large_conductance_calcium-activated_channel%2C_subfamily_M%2C_alpha_1)

Genomic Location
for KCNMA1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KCNMA1 gene  

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)

GeneLoc gene densities for chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M078314:     (about GC identifiers)

Start:
 78,299,366 bp from pter
End:
 79,068,133 bp from pter
Size:
 768,768 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000010.9  NT_008583.16  

Proteins
for KCNMA1

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 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
beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4. Beta subunits are accessory, and modulate its
activity
Subcellular location: Membrane; Multi-pass membrane protein
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;
Secondary accessions: 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   (May be partially controlled by hormonal stress. Additional isoforms seem to exist)

Post-translational modifications:

  • Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles,
    phosphorylation affects its activity1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (4 alternative transcripts): 
    NP_001014797.1  NP_001154824.1  NP_001154825.1  NP_002238.2  


    ENSEMBL proteins: 
    ENSP00000361517 ENSP00000385717 ENSP00000361514 ENSP00000346321 ENSP00000286627 ENSP00000361485 
    ENSP00000361480 ENSP00000385552 ENSP00000361498 ENSP00000286628 ENSP00000385620 ENSP00000385806 
    ENSP00000361520 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Maxi Potassium channel alpha, Slotoxin)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008076 voltage-gated potassium channel complex IDA7573516 7877450
    GO:0009897 external side of plasma membrane ISS--
    GO:0016021 integral to membrane IDA7573516 7877450
    GO:0016324 apical plasma membrane IDA10840032
    GO:0043195 terminal button ISS--
    About this table

    Antibodies for KCNMA1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of KCNMA1
    Sigma-Aldrich Antibodies for KCNMA1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Maxi Potassium channel alpha, Slotoxin), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for KCNMA1

    Assays for KCNMA1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for KCNMA1

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro domains/families:
     IPR005821 Ion_trans
     IPR003091 K_chnl
     IPR016040 NAD(P)-bd_dom
     IPR003929 K_chnl_Ca-activ_BK_asu


       GeneDecks  KCNMA1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q12791

    ProtoNet protein and cluster: Q12791

    2 Blocks protein families:
    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 subfamily
    Similarity: Contains 1 RCK N-terminal domain

    Gene Function
    for KCNMA1

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (KCNMA1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNMA1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001014797

                  Applied Biosystems Silencer® siRNAs for KCNMA1

                  Sigma-Aldrich siRNA and siRNA Panels for KCNMA1  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNMA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001014797
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001014797
                                     untagged cDNA clones in CMV expression vector (see all 6): BC024965 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001014797

    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)
    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

    11 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Kcnma1):

    behavior/neurologicalcellulardigestive/alimentarygrowth/size
    hearing/vestibular/earlife span-post-weaning/agingmusclenervous systemrenal/urinary system
    reproductive system

    5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287 magnesium ion binding IEA--
    GO:0003824 catalytic activity IEA--
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005249 voltage-gated potassium channel activity IDA7877450 12388065
    GO:0005509 calcium ion binding IEA--
    About this table

    Pathways & Interactions
    for KCNMA1

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for KCNMA1 (Maps provided by GeneGo):
     A2BR signaling via G-alpha-q: RSK and JNK specific pathways (map 2a)

       GeneDecks  KCNMA1 for the pathways selected above  
    About GeneDecksing

    3 Millipore Pathways for KCNMA1
      ion currents
     Selected targets of ESR1
      outward current

       GeneDecks  KCNMA1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for KCNMA1):
     hsa04270 Vascular smooth muscle contraction

       GeneDecks  KCNMA1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  KCNMA1 

    5/25 Gene Ontology (GO) biological process terms (links to tree view) (see all 25 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666 response to hypoxia IDA15528406
    GO:0006811 ion transport IEA--
    GO:0006813 potassium ion transport IDA7573516 7877450 11245614 12388065 17706472 18458941
    GO:0006970 response to osmotic stress IDA10840032 12388065
    GO:0007268 synaptic transmission ISS--
    About this table

    Drugs & Compounds
    for KCNMA1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Sigma-Aldrich Small Molecules for KCNMA1:
    Agonist

    Compounds for KCNMA1 available from Tocris Bioscience
    CompoundAction CAS number
    BMS 191011Potent Maxi-K channel opener (BKCa, KCa1.1)[202821-81-6]
    PaxillinePotent blocker of BKCa channels[57186-25-1]
    CharybdotoxinK+ channel blocker (high conductance, Ca2+-dependent)[95751-30-7]
    4-AminopyridineK+ channel blocker[504-24-5]
    IberiotoxinK+ channel blocker (high conductance, Ca2+-dependent)[129203-60-7]
    About this table


    10/48 Novoseek chemical compound relationships for KCNMA1 gene (see all 48 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    iberiotoxin 93.23 56 12807996 (3), 16817201 (2), 14569058 (2), 16527820 (2) (see all 42)
    charybdotoxin 85.70 33 7545007 (3), 9053774 (2), 9002422 (2), 9716706 (1) (see all 22)
    potassium 84.89 49 17151195 (3), 10196543 (2), 15649626 (2), 9687354 (2) (see all 38)
    ns 1619 84.54 8 12962728 (2), 17359538 (2), 18706395 (1), 8137869 (1) (see all 6)
    maxipost 83.76 3 18473808 (1), 12636425 (1), 15100177 (1)
    pimaric acid 73.97 5 12237330 (2), 17318194 (2)
    apamin 73.70 8 9002422 (2), 15746700 (1), 1560367 (1), 12793981 (1) (see all 7)
    calcium 68.41 257 12405981 (5), 19096717 (5), 8386529 (4), 12164309 (4) (see all 99)
    katp 61.92 19 10333080 (2), 9797759 (2), 15862108 (2), 9887977 (1) (see all 12)
    noxiustoxin 57.46 1 11551194 (1)
    About this table


    Transcripts
    for KCNMA1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (KCNMA1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNMA1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001014797

                  Sigma-Aldrich siRNA and siRNA Panels for KCNMA1  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNMA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001014797  NM_002247  

    REFSEQ mRNAs for KCNMA1 gene (4 alternative transcripts): 

    NM_001014797.2   NM_001161352.1   NM_001161353.1   NM_002247.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001014797  NM_002247  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001014797
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001014797
                                     untagged cDNA clones in CMV expression vector (see all 6): BC024965 

    Additional cDNA sequence: 

    AB113382.1 AB113575.1 AB209488.1 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 

    24 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.312503  DT.40241280  DT.91765337  DT.91944601  DT.95168595  DT.97783626  DT.86855833  DT.92002716 

    24/199 AceView cDNA sequences (see all 199 ):

    BQ188847 AB113575 CA447316 AA719180 BF001467 U23767 BC024965 BM128676 
    AI192199 AI298419 BM997062 AF349445 AF118141 BU727321 AA031781 BM688852 
    BC009695 AB113382 U11058 AW262537 BG198117 AW068320 BM273121 BM893581 

    highest scoring ESTs for KCNMA1:

    AA044244 U13913 AA044163 AI263560 AI367843 AI819282 AI953949 AW003118 AW193854 BC009695 

    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


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for KCNMA1 (see all 8 )

    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:                                                                              

    About this scheme

    ECgene alternative splicing isoforms for KCNMA1

    13 Ensembl transcripts including schematic representations:
    ENST00000372440  ENST00000404771  ENST00000372437  ENST00000354353  ENST00000286627  ENST00000372408  
    ENST00000372403  ENST00000406533  ENST00000372421  ENST00000286628  ENST00000404412  ENST00000404857  
    ENST00000372443  

    Expression
    for KCNMA1

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KCNMA1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KCNMA1

    1 / 2 / 3

    16 probe-sets matching KCNMA1 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    53796_at2, 3 U95-B 1 1.00 1.00 0.82 1.31 AI819282 0.80 1.00 0.91 1

    		47574_at2, 3 U95-B 1 1.00 1.00 0.58 1.42 AA044244 1.00 1.00 1.00 1
    52051_at2, 3 U95-B 1 1.00 1.00 0.87 0.85 AI832576 0.60 1.00 0.82 1

    		36442_g_at2, 3 U95-A 1 1.00 1.00 0.54 0.52 U02632 0.80 1.00 0.91 1

    		36441_at2, 3 U95-A 1 1.00 1.00 -0.24 0.43 U02632 0.80 1.00 0.91 1

    		47575_g_at2, 3 U95-B 1 1.00 1.00 0.76 1.63 AA044244 1.00 1.00 1.00 1

    		40737_at2, 3 U95-A 2 1.00 0.97 0.79 0.85 U13913 1.00 0.90 0.95 1

    		71424_at*2, 3 U95-D 1 -- -- -0.33 0.58 AI341157 0.20 1.00 0.72 1

    		221584_s_at2, 3 U133-A 1 1.00 1.00 -- -- U11058 0.80 0.88 0.84 1

    		228414_at2, 3 U133-B 1 1.00 1.00 -- -- AI832576 0.60 1.00 0.82 1

    		221583_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI129381 0.60 1.00 0.82 1

    		214921_at2, 3 U133-A 1 1.00 1.00 -- -- U02632 0.80 1.00 0.91 1

    		221584_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		228414_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		221583_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		214921_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  KCNMA1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ACCTAGCCAC

    SOURCE GeneReport for Unigene cluster: Hs.144795

    Expression variation in blood from EXPOLDB for KCNMA1

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

    Orthologs
    for KCNMA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for KCNMA1 gene from 5/12 species (see all 12 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 KCNMA11   -- potassium large conductance calcium-activated channel, more 94.62(n)
    97.75(a)    		 403984  NM_001003300.1  NP_001003300.1 
    cow
    (Bos taurus)    		 KCNMA11   -- potassium large conductance calcium-activated channel, more 94.5(n)
    99.74(a)    		 282573  NM_174680.2  NP_777105.1 
    rat
    (Rattus norvegicus)    		 Kcnma11   -- potassium large conductance calcium-activated channel, more 91.5(n)
    97.36(a)    		 83731  NM_031828.1  NP_114016.1 
    mouse
    (Mus musculus)    		 Kcnma11, 5 145
    		 potassium large conductance calcium-activated channel, more1, 5 92.21(n)1
    98.04(a)1    		 165311  NM_010610.21  NP_034740.21 
     AF1566745  AF2950945  (see all 26)
    chicken
    (Gallus gallus)    		 KCNMA11   -- potassium large conductance calcium-activated channel, more 85.93(n)
    95.48(a)    		 374065  NM_204224.1  NP_989555.1 
    About this table        Species with no ortholog for KCNMA1

    ENSEMBL Gene Tree for KCNMA1

    Paralogs
    for KCNMA1

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KCNMA1 gene
    KCNT12  KCNT22  KCNU12  

    SNPs/Variants
    for KCNMA1

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/4378 NCBI SNPs in KCNMA1 are shown (see all 4378 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 1764)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs49801131,2
    		A,C,F,H78299801(+) GAATGG/CAACGT 1 -- ut3111Minor allele frequency- C:0.36EU EA WA NA 978
    --
    rs108244621,2
    		A,C,F,H78301858(+) TGGATG/ATCCTG 1 -- ut314Minor allele frequency- A:0.13EU EA WA 410
    rs70730151,2
    		A,C,F,H78315073(+) TAGAGA/GGACAA 2 -- int1 ut317Minor allele frequency- G:0.27NA EU EA WA 526
    rs108244601,2
    		A,C,F,H78300787(+) ATTTTG/TCTCCT 1 -- ut318Minor allele frequency- T:0.14EU EA WA 840
    rs64808401,2
    		A,C,F,H78302839(+) CCAACT/CGTTGT 1 -- ut3111Minor allele frequency- C:0.08EU EA WA NA 978
    rs107627331,2
    		A,C,F,H78315459(+) ATAAGG/AGAAAT 2 -- int1 ut318Minor allele frequency- A:0.37EA NA EU WA 634
    --
    rs78948331,2
    		A,C,F,H78301897(+) GAAAAC/TAGTAT 1 -- ut3111Minor allele frequency- T:0.08EU EA WA NA 980
    rs21168301,2
    		A,C,F,H78316542(-) GCAACC/AAAACA 2 -- ut31 int115Minor allele frequency- A:0.09NA EU EA WA 1394
    rs28943471,2
    		A,C,F,H78299113(+) CTGCCA/GTGCCT 1 -- ng519Minor allele frequency- G:0.44EU EA WA NA 740
    rs18975941,2
    		A,C,F,H78305284(-) GTGTCA/TCCCCT 1 -- ut314Minor allele frequency- T:0.45EU EA WA 416
    About this table

    HapMap Linkage Disequilibrium images for KCNMA1 (up to first 250kb)

    Disorders & Mutations
    for KCNMA1

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 600150   disorders: 609446  

    UniProtKB/Swiss-Prot: KCMA1_HUMAN, Q12791

  • Defects in KCNMA1 are the cause of 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

    • 10/18 Novoseek disease relationships for KCNMA1 gene (see all 18 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    paroxysmal dyskinesias 63.51 4 15937479 (3), 19204046 (1)
    erectile dysfunction 42.14 8 12879112 (1), 15964135 (1), 17402321 (1), 17134370 (1) (see all 5)
    diastolic hypertension 33.22 1 15057299 (1)
    glioma 28.29 32 11880513 (4), 12739163 (4), 12007141 (3), 17318194 (3) (see all 11)
    cholera 7.69 5 8752494 (1), 16107501 (1), 8606361 (1)
    osteosarcoma 7.49 2 12009018 (1), 14584897 (1)
    breast cancer 2.05 2 15893312 (1), 17164406 (1)
    epilepsy 1.64 10 19204046 (2), 19204188 (1), 15937479 (1), 19054419 (1) (see all 6)
    tumors 1.49 15 19074007 (2), 17359538 (2), 19247476 (1), 17624594 (1) (see all 9)
    cancer 0.40 1 18706395 (1)
    About this table

    Human Gene Mutation Database: KCNMA1
    Human Genome Epidemiology Navigator: KCNMA1 (1 document)

    Medical News
    for KCNMA1

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for KCNMA1

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

    		10/398 PubMed articles for KCNMA1 gene (see all 398 ):

    Search for KCNMA1

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing KCNMA1

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

    Other Databases showing KCNMA1

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing KCNMA1

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    		   --

    Licensable Technologies
    for KCNMA1

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for KCNMA1

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for KCNMA1:
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