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Mast1 Gene Detail
Summary
  • Symbol
    Mast1
  • Name
    microtubule associated serine/threonine kinase 1
  • Synonyms
    9430008B02Rik, SAST, SAST170
  • Feature Type
    protein coding gene
  • IDs
    MGI:1861901
    NCBI Gene: 56527
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:85638532-85663988 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 41.32 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    524 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1861901
 protein coding gene Chr8:85638482-85672811 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033880
 protein coding gene Chr8:85841687-85877658 (-)
A/J MGP_AJ_G0033863
 protein coding gene Chr8:82458449-82484018 (-)
AKR/J MGP_AKRJ_G0033789
 protein coding gene Chr8:84901290-84937834 (-)
BALB/cJ MGP_BALBcJ_G0033856
 protein coding gene Chr8:82585428-82611955 (-)
C3H/HeJ MGP_C3HHeJ_G0033566
 protein coding gene Chr8:85525390-85551660 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034376
 protein coding gene Chr8:89121310-89152139 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031317
 protein coding gene Chr8:76251286-76290414 (-)
CAST/EiJ MGP_CASTEiJ_G0032896
 protein coding gene Chr8:84956479-84995520 (-)
CBA/J MGP_CBAJ_G0033542
 protein coding gene Chr8:92158954-92192450 (-)
DBA/2J MGP_DBA2J_G0033695
 protein coding gene Chr8:82097991-82124563 (-)
FVB/NJ MGP_FVBNJ_G0033643
 protein coding gene Chr8:81046080-81075508 (-)
LP/J MGP_LPJ_G0033787
 protein coding gene Chr8:85949776-85990476 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033685
 protein coding gene Chr8:94718284-94747127 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034393
 protein coding gene Chr8:84891584-84917574 (-)
PWK/PhJ MGP_PWKPhJ_G0032600
 protein coding gene Chr8:81343943-81380288 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032436
 protein coding gene Chr8:83701587-83739659 (-)
WSB/EiJ MGP_WSBEiJ_G0033009
 protein coding gene Chr8:85322188-85356885 (-)



Homology
more
  • Human Ortholog
    MAST1, microtubule associated serine/threonine kinase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAST1, microtubule associated serine/threonine kinase 1
  • Synonyms
    MCCCHCM, SAST
  • Links
    NCBI Gene ID: 22983
    neXtProt AC: NX_Q9Y2H9
    UniProt: Q9Y2H9

  • Chr Location
    19p13.13; chr19:12833951-12874952 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mast1 mouse models; 2 with human MAST1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    38 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 null mice show no obvious corpus callosum or cortex defect. Mice homozygous for a L278 microdeletion die neonatally with increased neuron apoptosis while heterozygotes show enlarged corpus callosum and cerebellar hypoplasia with more axons crossing the midline despite cortical apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    45
  • GO References
    12
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
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
    722
  • Tissues
    12
  • cDNA Data
    75
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000053693 Ensembl Gene Model | MGI Sequence Detail 25457 C57BL/6J ±  kb
    transcript ENSMUST00000109741 Ensembl | MGI Sequence Detail 4872 Not Applicable  
    polypeptide ENSMUSP00000105363 Ensembl | MGI Sequence Detail 1570 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000010195 microtubule-associated serine/threonine-protein kinase 1
      (term hierarchy)
    • EC
      2.7.11.1
    • InterPro Domains
      IPR000961 AGC-kinase, C-terminal
      IPR037711 Microtubule-associated serine/threonine-protein kinase, catalytic domain
      IPR015022 Microtubule-associated serine/threonine-protein kinase, pre-PK domain
      IPR023142 Microtubule-associated serine/threonine-protein kinase, pre-PK domain superfamily
      IPR051067 Na+/H+ exchange regulatory cofactor
      IPR001478 PDZ domain
      IPR041489 PDZ domain 6
      IPR036034 PDZ superfamily
      IPR000719 Protein kinase domain
      IPR011009 Protein kinase-like domain superfamily
      IPR008271 Serine/threonine-protein kinase, active site
      IPR050236 Serine/threonine-protein kinases, AGC
    • GlyGen
      Q9R1L5 6 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 79
      cDNA 79

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1924506
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 12
      Phenotypes 38
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory