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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:50770850-50865248 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 24.87 cM, cytoband B3-B4
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2283 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98306
 protein coding gene Chr10:50770794-50865252 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017213
 protein coding gene Chr10:49992456-50098405 (+)
A/J MGP_AJ_G0017189
 protein coding gene Chr10:48500038-48602701 (+)
AKR/J MGP_AKRJ_G0017148
 protein coding gene Chr10:49430181-49521681 (+)
BALB/cJ MGP_BALBcJ_G0017150
 protein coding gene Chr10:48646778-48741047 (+)
C3H/HeJ MGP_C3HHeJ_G0016974
 protein coding gene Chr10:49680671-49784240 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017608
 protein coding gene Chr10:51554393-51654994 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015303
 protein coding gene Chr10:45955257-46041925 (+)
CAST/EiJ MGP_CASTEiJ_G0016548
 protein coding gene Chr10:49840343-49940315 (+)
CBA/J MGP_CBAJ_G0016945
 protein coding gene Chr10:53840598-53944441 (+)
DBA/2J MGP_DBA2J_G0017050
 protein coding gene Chr10:47954740-48048200 (+)
FVB/NJ MGP_FVBNJ_G0017044
 protein coding gene Chr10:47314497-47407983 (+)
LP/J MGP_LPJ_G0017125
 protein coding gene Chr10:50031876-50130553 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017073
 protein coding gene Chr10:55639424-55757541 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017644
 protein coding gene Chr10:49387646-49487125 (+)
PWK/PhJ MGP_PWKPhJ_G0016327
 protein coding gene Chr10:47805963-47900851 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016112
 protein coding gene Chr10:48990037-49098287 (+)
WSB/EiJ MGP_WSBEiJ_G0016611
 protein coding gene Chr10:49601926-49693026 (+)



Homology
more
  • Human Ortholog
    SIM1, SIM bHLH transcription factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SIM1, SIM bHLH transcription factor 1
  • Synonyms
    bHLHe14
  • Links
    NCBI Gene ID: 6492
    neXtProt AC: NX_P81133
    UniProt: P81133

  • Chr Location
    6q16.3; chr6:100385009-100464921 (-)  GRCh38
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
less
  • Phenotype Summary
    34 phenotypes from 5 alleles in 5 genetic backgrounds
    6 phenotypes from multigenic genotypes
    50 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
less
  • All GO Annotations
    15
  • GO References
    9
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
    1231
  • Tissues
    334
  • cDNA Data
    22
  • Literature Summary
    99
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      Genomic 3
      cDNA 23
      Primer pair 5
      Other 21

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14414
    References
    more
    • Summaries
      All 179
      Developmental Gene Expression 99
      Diseases 2
      Gene Ontology 9
      Phenotypes 50
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:344351 Deska-Gauthier D, et al., Embryonic temporal-spatial delineation of excitatory spinal V3 interneuron diversity. Cell Rep. 2023 Dec 29;43(1):113635
    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