About   Help   FAQ
Kcnma1 Gene Detail
Summary
  • Symbol
    Kcnma1
  • Name
    potassium large conductance calcium-activated channel, subfamily M, alpha member 1
  • Synonyms
    5730414M22Rik, BKCa, BK channel alpha subunit, MaxiK, mSlo1, Slo, Slo1
  • Feature Type
    protein coding gene
  • IDs
    MGI:99923
    NCBI Gene: 16531
Location & Maps
more
  • Sequence Map
    Chr14:23299381-24004859 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      705479 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 12.92 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    KCNMA1, potassium calcium-activated channel subfamily M alpha 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    KCNMA1, potassium calcium-activated channel subfamily M alpha 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bA205K10.1, BKTM, hSlo, KCa1.1, MaxiK, mSLO1, SAKCA, SLO, SLO1, SLO-ALPHA
  • Links
    NCBI Gene ID: 3778
    neXtProt AC: NX_Q12791

  • Chr Location
    10q22.3; chr10:76869601-77637819 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human KCNMA1 associations

Human Disease Mouse Models
       Generalized Epilepsy and Paroxysmal Dyskinesia; GEPD   OMIM: 609446
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    38 phenotypes from 3 alleles in 6 genetic backgrounds
    46 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous inactivation of this gene leads to cerebellar ataxia, Purkinje cell dysfunction, uneven gait patterns, bladder hyperactivity, urinary incontinence, abnormal colonic K+ secretion, and hearing impairment.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000045153 VEGA Gene Model | MGI Sequence Detail 705479 C57BL/6J ±  kb
transcript OTTMUST00000118654 VEGA | MGI Sequence Detail 4440 Not Applicable  
polypeptide OTTMUSP00000066221 VEGA | MGI Sequence Detail 1239 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    3758 from dbSNP Build 142
Protein
Information
less
  • UniProt
    44 Sequences
  • Protein Ontology
    PR:000001849 calcium-activated potassium channel subunit alpha-1
  • InterPro Domains
    IPR008981 F-MuLV receptor-binding
    IPR005821 Ion transport domain
    IPR016040 NAD(P)-binding domain
    IPR003929 Potassium channel, calcium-activated, BK, alpha subunit
    IPR003148 Regulator of K+ conductance, N-terminal
    IPR018154 TLV/ENV coat polyprotein
    IPR028325 Voltage-gated potassium channel
Molecular
Reagents
less
  • All nucleic 48
    cDNA 30
    Primer pair 12
    Other 6

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-16725, MGI:1917778
References
more
  • Summaries
    All 105
    Developmental Gene Expression 9
    Gene Ontology 26
    Phenotypes 46
  • Earliest
    J:13395 Butler A, et al., mSlo, a complex mouse gene encoding maxi calcium-activated potassium channels. Science. 1993 Jul 9;261(5118):221-4
  • Latest
    J:226358 Cordeiro B, et al., BKCa channel activation increases cardiac contractile recovery following hypothermic ischemia/reperfusion. Am J Physiol Heart Circ Physiol. 2015 Aug 15;309(4):H625-33

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/24/2016
MGI 6.04
The Jackson Laboratory