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Six1 Gene Detail
Summary
  • Symbol
    Six1
  • Name
    sine oculis-related homeobox 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102780
    NCBI Gene: 20471
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:73088601-73093486 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 30.34 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    133 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_102780
 protein coding gene Chr12:73086789-73100661 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019832
 protein coding gene Chr12:72914758-72930081 (-)
A/J MGP_AJ_G0019790
 protein coding gene Chr12:70200034-70214025 (-)
AKR/J MGP_AKRJ_G0019765
 protein coding gene Chr12:72321527-72336537 (-)
BALB/cJ MGP_BALBcJ_G0019770
 protein coding gene Chr12:70678160-70692582 (-)
C3H/HeJ MGP_C3HHeJ_G0019575
 protein coding gene Chr12:72751877-72766838 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020222
 protein coding gene Chr12:75188804-75204411 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017840
 protein coding gene Chr12:67654737-67668655 (-)
CAST/EiJ MGP_CASTEiJ_G0019127
 protein coding gene Chr12:67542349-67556250 (-)
CBA/J MGP_CBAJ_G0019545
 protein coding gene Chr12:78037913-78055345 (-)
DBA/2J MGP_DBA2J_G0019661
 protein coding gene Chr12:70089603-70103815 (-)
FVB/NJ MGP_FVBNJ_G0019648
 protein coding gene Chr12:68943744-68957878 (-)
LP/J MGP_LPJ_G0019733
 protein coding gene Chr12:72945606-72963503 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019687
 protein coding gene Chr12:81200574-81218360 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020257
 protein coding gene Chr12:71797600-71813631 (-)
PWK/PhJ MGP_PWKPhJ_G0018892
 protein coding gene Chr12:64399731-64413654 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018687
 protein coding gene Chr12:66212068-66225885 (-)
WSB/EiJ MGP_WSBEiJ_G0019178
 protein coding gene Chr12:72396130-72411401 (-)



Homology
more
  • Human Ortholog
    SIX1, SIX homeobox 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SIX1, SIX homeobox 1
  • Synonyms
    BOS3, DFNA23, TIP39
  • Links
    NCBI Gene ID: 6495
    neXtProt AC: NX_Q15475
    UniProt: Q15475

  • Chr Location
    14q23.1; chr14:60643421-60658259 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Six1 mouse models; 3 with human SIX1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    142 phenotypes from 9 alleles in 13 genetic backgrounds
    75 phenotypes from multigenic genotypes
    9 images
    82 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 inactivation of this gene causes perinatal lethality associated with severe muscle hypoplasia, rib defects, absence of kidneys and thymus, craniofacial anomalies, as well as defects in neurogenesis and ear, nasal, and gland development. Heterozygotes may show variable hearing loss.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    131
  • GO References
    38
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
    1498
  • Tissues
    330
  • cDNA Data
    17
  • Literature Summary
    141
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20471 NCBI Gene Model | MGI Sequence Detail 4886 C57BL/6J ±  kb
    transcript NM_009189 RefSeq | MGI Sequence Detail 2849 ZRU/MplStud  
    polypeptide Q62231 UniProt | EBI | MGI Sequence Detail 284 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      cDNA 18
      Primer pair 10
      Other 19

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-19688, MGI:2145072
    References
    more
    • Summaries
      All 216
      Developmental Gene Expression 141
      Diseases 1
      Gene Ontology 38
      Phenotypes 82
    • Earliest
      J:23775 Oliver G, et al., Homeobox genes and connective tissue patterning. Development. 1995 Mar;121(3):693-705
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    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