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Snta1 Gene Detail
Summary
  • Symbol
    Snta1
  • Name
    syntrophin, acidic 1
  • Synonyms
    alpha1-syntrophin, Snt1
  • Feature Type
    protein coding gene
  • IDs
    MGI:101772
    NCBI Gene: 20648
Location & Maps
more
  • Sequence Map
    Chr2:154376313-154408099 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31787 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 76.52 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    SNTA1, syntrophin alpha 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SNTA1, syntrophin alpha 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    dJ1187J4.5, LQT12, SNT1, TACIP1
  • Links
    NCBI Gene ID: 6640
    neXtProt AC: NX_Q13424

  • Chr Location
    20q11.2; chr20:33407957-33443892 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SNTA1 associations

Human Disease Mouse Models
       Long QT Syndrome 12; LQT12   OMIM: 612955
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 2 alleles in 1 genetic background
    3 phenotypes from multigenic genotypes
    2 images
    29 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.
Mice homozygous for a targeted null allele display impaired astrocyte and neuromuscular synapse morphology. Mice homozygous for another targeted null allele show neither gross histological abnormalities in skeletal muscle nor significant changes in muscle contractile properties.
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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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015793 VEGA Gene Model | MGI Sequence Detail 31787 C57BL/6J ±  kb
transcript OTTMUST00000037560 VEGA | MGI Sequence Detail 2125 Not Applicable  
polypeptide OTTMUSP00000016832 VEGA | MGI Sequence Detail 503 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    159 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 42
    Genomic 1
    cDNA 41

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-14479, MGD-MRK-18579, MGI:2139331
References
more
  • Summaries
    All 71
    Developmental Gene Expression 1
    Gene Ontology 13
    Phenotypes 29
  • Earliest
    J:20636 Adams ME, et al., Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution. Neuron. 1993 Sep;11(3):531-40
  • Latest
    J:229890 Ang SY, et al., KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation. Development. 2016 Mar 1;143(5):810-21

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory