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Mkl1 Gene Detail
Summary
  • Symbol
    Mkl1
  • Name
    MKL (megakaryoblastic leukemia)/myocardin-like 1
  • Synonyms
    Bsac, Mal, MRTF-A
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384495
    NCBI Gene: 223701
  • Gene Overview
    MyGene.info: MKL1
Location & Maps
more
  • Sequence Map
    Chr15:81012281-81190757 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      178477 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 37.98 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MKL1, megakaryoblastic leukemia (translocation) 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MKL1, megakaryoblastic leukemia (translocation) 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BSAC, MAL, MRTF-A
  • Links
    NCBI Gene ID: 57591
    neXtProt AC: NX_Q969V6

  • Chr Location
    22q13; chr22:40410281-40636719 (-)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    23 phenotypes from multigenic genotypes
    1 images
    43 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.
  • All Mutations and Alleles
    36
  • Chemically induced (other)
    1
  • Gene trapped
    30
  • Radiation induced
    2
  • Targeted
    2
  • Transgenic
    1
  • Genomic Mutations
    3 involving Mkl1
  • Incidental Mutations
Mice homozygous for a null allele exhibit impaired mammary myoepithelial cell differentiation and fail to eject milk and productively nurse their offspring. Mice homozygous for another null allele show partial embryonic lethality caused by myocardial necrosis as well as mammary gland dysfunction.
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
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034068 VEGA Gene Model | MGI Sequence Detail 178477 C57BL/6J ±  kb
transcript OTTMUST00000086060 VEGA | MGI Sequence Detail 4154 Not Applicable  
polypeptide OTTMUSP00000046546 VEGA | MGI Sequence Detail 964 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    941 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 64
    cDNA 60
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGI:2146091, MGI:2146249, MGI:2146251
References
more
  • Summaries
    All 80
    Developmental Gene Expression 11
    Diseases 1
    Gene Ontology 13
    Phenotypes 43
  • Earliest
    J:78258 Sasazuki T, et al., Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. J Biol Chem. 2002 Aug 9;277(32):28853-60
  • Latest
    J:231353 Fan Z, et al., MKL1 is an epigenetic modulator of TGF-beta induced fibrogenesis. Biochim Biophys Acta. 2015 Sep;1849(9):1219-28

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory