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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
  • Alliance
  • Transcription Start Sites
    22 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:23342356-24055173 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 14, 12.92 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    18927 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99923
protein coding gene Chr14:23339499-24064559 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021060
protein coding gene Chr14:16184916-16913745 (-)
A/J MGP_AJ_G0021009
protein coding gene Chr14:15757402-16471754 (-)
AKR/J MGP_AKRJ_G0020986
protein coding gene Chr14:16336331-17066519 (-)
BALB/cJ MGP_BALBcJ_G0021012
protein coding gene Chr14:15878145-16593711 (-)
C3H/HeJ MGP_C3HHeJ_G0020796
protein coding gene Chr14:16302602-17039157 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021445
protein coding gene Chr14:16712897-17459024 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019013
protein coding gene Chr14:16045336-16750874 (-)
CAST/EiJ MGP_CASTEiJ_G0020320
protein coding gene Chr14:16118943-16870082 (-)
CBA/J MGP_CBAJ_G0020762
protein coding gene Chr14:17557303-18330502 (-)
DBA/2J MGP_DBA2J_G0020885
protein coding gene Chr14:15578340-16289735 (-)
FVB/NJ MGP_FVBNJ_G0020868
protein coding gene Chr14:15448948-16169774 (-)
LP/J MGP_LPJ_G0020961
protein coding gene Chr14:16412496-17163156 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020894
protein coding gene Chr14:17303984-18053640 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021478
protein coding gene Chr14:16155142-16891081 (-)
PWK/PhJ MGP_PWKPhJ_G0020069
protein coding gene Chr14:15186836-15913995 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019891
protein coding gene Chr14:15954846-16713379 (-)
WSB/EiJ MGP_WSBEiJ_G0020376
protein coding gene Chr14:16150500-16893571 (-)



Homology
more
  • Human Ortholog
    KCNMA1, potassium calcium-activated channel subfamily M alpha 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNMA1, potassium calcium-activated channel subfamily M alpha 1
  • Synonyms
    bA205K10.1, BKTM, CADEDS, hSlo, IEG16, KCa1.1, LIWAS, MaxiK, mSLO1, PNKD3, SAKCA, SLO, SLO1, SLO-ALPHA
  • Links
    NCBI Gene ID: 3778
    neXtProt AC: NX_Q12791
    UniProt: Q12791

  • Chr Location
    10q22.3; chr10:76869601-77638369 (-)  GRCh38

Human Diseases
more
  • Diseases
    3 with human KCNMA1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 5 alleles in 8 genetic backgrounds
    78 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
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
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  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16531 NCBI Gene Model | MGI Sequence Detail 712818 C57BL/6J ±  kb
    transcript NM_001253364 RefSeq | MGI Sequence Detail 6194 C57BL/6  
    polypeptide Q08460 UniProt | EBI | MGI Sequence Detail 1209 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      55 Sequences
    • Protein Ontology
      PR:000001849 calcium-activated potassium channel subunit alpha-1
    • InterPro Domains
      IPR048735 Ca2+-activated K+ channel Slowpoke-like, C-terminal domain
      IPR003929 Calcium-activated potassium channel BK, alpha subunit
      IPR047871 Calcium-activated potassium channel slowpoke-like
      IPR008981 F-MuLV receptor-binding
      IPR005821 Ion transport domain
      IPR036291 NAD(P)-binding domain superfamily
      IPR003148 Regulator of K+ conductance, N-terminal
      IPR018154 TLV/ENV coat polyprotein
    • GlyGen
      Q08460 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 31
      Primer pair 15
      Other 7

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16725, MGI:1917778
    References
    more
    • Summaries
      All 163
      Developmental Gene Expression 15
      Gene Ontology 29
      Phenotypes 78
    • 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:346806 Chen Y, et al., The BK Channel Limits the Pro-Inflammatory Activity of Macrophages. Cells. 2024 Feb 9;13(4)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    12/10/2024
    MGI 6.24
    The Jackson Laboratory