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Sim1 Gene Detail
Summary
  • Symbol
    Sim1
  • Name
    single-minded family bHLH transcription factor 1
  • Synonyms
    bHLHe14
  • Feature Type
    protein coding gene
  • IDs
    MGI:98306
    NCBI Gene: 20464
  • Gene Overview
    MyGene.info: SIM1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:50894754-50989152 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      94399 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 24.87 cM, cytoband B3-B4
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    SIM1, SIM bHLH transcription factor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SIM1, SIM bHLH transcription factor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bHLHe14
  • Links
    NCBI Gene ID: 6492
    neXtProt AC: NX_P81133
    UniProt: P81133

  • Chr Location
    6q16.3; chr6:100385009-100464929 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3715
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SIM1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Sim1 mouse models; 1 with human SIM1 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 5 alleles in 5 genetic backgrounds
    6 phenotypes from multigenic genotypes
    37 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 disruptions of this gene die at birth with abnormalities in the paraventricular and supraoptic nuclei. Heterozygous mutant mice are obese and may also be diabetic, hyperinsulinemic and insulin resistant.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019913 Ensembl Gene Model | MGI Sequence Detail 94399 C57BL/6J ±  kb
    transcript ENSMUST00000020071 Ensembl | MGI Sequence Detail 7355 Not Applicable  
    polypeptide ENSMUSP00000020071 Ensembl | MGI Sequence Detail 765 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      557 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 2
      cDNA 19
      Primer pair 4
      Other 13

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14414
    References
    more
    • Summaries
      All 148
      Developmental Gene Expression 81
      Diseases 2
      Gene Ontology 7
      Phenotypes 37
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:256399 Semple E, et al., Sim1 Neurons Are Sufficient for MC4R-Mediated Sexual Function in Male Mice. Endocrinology. 2018 Jan 1;159(1):439-449

    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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    Send questions and comments to User Support.
    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory