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Six1
Gene Detail
 Symbol
Name
ID
Six1
sine oculis-related homeobox 1
MGI:102780
Feature Type protein coding gene
Genetic Map
Chromosome 12
30.34 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr12:73040015-73053887 bp, - strand
From VEGA annotation of GRCm38

  13873 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4360  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Six1

Human
homologs
Human Homolog SIX1, SIX homeobox 1
NCBI Gene ID 6495
neXtProt AC  NX_Q15475
Human Synonyms  BOS3, DFNA23, TIP39
Human Chr (Location)  14q23.1; chr14:60644699-60649437 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human SIX1
Mutations,
alleles, and
phenotypes
All mutations/alleles(35) : Chemically induced (ENU)(1) Gene trapped(26) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations exhibit rib defects, muscle hypoplasia, absence of kidneys and thymus, craniofacial defects, and ear and nose defects. Heterozygotes show partial hearing loss. Mice homozygous for a different knock-out allele exhibit abnormal myogenesis.
 
Human Diseases Modeled Using Mouse Six1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(4)
Interactions
Six1 interacts with 438 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (73 annotations)
Process anatomical structure development, aorta morphogenesis, ...
Component cytoplasm, nucleolus, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (75 records)
Data Summary: Results (520)    Tissues (233)    Images (218)
Theiler Stages: 12, 13, 14, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 28
Assay TypeResults
Immunohistochemistry 16
RNA in situ 331
In situ reporter (knock in) 168
Northern blot 1
RT-PCR 4
cDNA source data(13)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(23) cDNA(15) Primer pair(2) Other(6)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000040058 (Evidence)
Ensembl Gene ModelENSMUSG00000051367 (Evidence)
Entrez Gene20471 (Evidence)
DFCITC1580234
DoTSDT.101722109
NIA Mouse Gene IndexU034063
Consensus CDS ProjectCCDS25973.1
International Mouse Knockout Project StatusSix1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000040058 VEGA Gene Model | MGI Sequence Detail 13873 C57BL/6J ±  kb
transcript OTTMUST00000104017 VEGA | MGI Sequence Detail 3316 Not Applicable 
polypeptide OTTMUSP00000058166 VEGA | MGI Sequence Detail 284 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(2) UniProt(3)
Polymorphisms RFLP(1) : SNPs within 2kb(54 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
Protein Ontology PR:000014896 homeobox protein SIX1
References (Earliest) J:23775 Oliver G, et al., Homeobox genes and connective tissue patterning. Development. 1995 Mar;121(3):693-705
(Latest) J:206594 Daou N, et al., A new role for the calcineurin/NFAT pathway in neonatal myosin heavy chain expression via the NFATc2/MyoD complex during mouse myogenesis. Development. 2013 Dec;140(24):4914-25
All references(122)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-19688, MGI:2145072

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
07/23/2014
MGI 5.19
The Jackson Laboratory