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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: SIX1
Gene Tree: Six1

Human
homologs
SIX1, SIX homeobox 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6495
neXtProt AC: NX_Q15475

Human Synonyms: BOS3, DFNA23, TIP39

Human Chr (Location): 14q23.1; chr14:60644699-60649437 (-)  GRCh38.p2

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 )
 
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.
 
Human Diseases Modeled in Mice Using Six1 (1)    Mutations 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: (91 annotations)
Process anatomical structure development, aorta morphogenesis, ...
Component cytoplasm, nucleolus, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (78 records)
Data Summary: Results (520)    Tissues (234)    Images (218)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 16
RNA in situ 331
In situ reporter (knock in) 168
Northern blot 1
RT-PCR 4
cDNA source data(13)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA SIX1 ; Xenbase six1 ; ZFIN six1a, six1b    NEW 
Molecular
reagents
All nucleic(23) cDNA(15) Primer pair(2) Other(6)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000040058 (Evidence)
Ensembl Gene Model ENSMUSG00000051367 (Evidence)
Entrez Gene 20471 (Evidence)
DFCI TC1580234
DoTS DT.101722109
NIA Mouse Gene Index U034063
Consensus CDS Project CCDS25973.1
International Mouse Phenotyping Consortium Status Six1
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:219894 Mattar P, et al., A conserved regulatory logic controls temporal identity in mouse neural progenitors. Neuron. 2015 Feb 4;85(3):497-504
All references(125)
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
08/18/2015
MGI 6.0
The Jackson Laboratory