Six1
Gene Detail

Symbol Name ID

Six1 sine oculis-related homeobox 1 MGI:102780

BioType Conflict

Feature Type

protein coding gene

Genetic Map

Chromosome 12

30.34 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr12:73041827-73046712 bp, - strand From NCBI annotation of GRCm38   4886 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

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; chr14:61111417-61116155 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human SIX1

Alleles and phenotypes

All alleles(27) : Targeted(8) Gene trapped(18) Chemically induced(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (71 annotations)

Process	anatomical structure development, aorta morphogenesis, ...
Component	nucleolus, nucleus, ...
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (70 records)
Data Summary: Results (373)    Tissues (176)    Images (129)
Theiler Stages: 12, 13, 14, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 28

Assay Type	Results
Immunohistochemistry	12
RNA in situ	306
In situ reporter (knock in)	50
Northern blot	1
RT-PCR	4

cDNA source data(36)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(43) cDNA(37) Primer pair(2) Other(4)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000040058 (Evidence), OTTMUSG00000040059 (Evidence)
Ensembl Gene Model	ENSMUSG00000051367 (Evidence), ENSMUSG00000093423 (Evidence)
Entrez Gene	20471 (Evidence)
UniGene	4645
DFCI	TC1580234
DoTS	DT.101722109
NIA Mouse Gene Index	U034063
Consensus CDS Project	CCDS25973.1
International Mouse Knockout Project Status	Six1

Sequences

Length	Strain/Species
genomic	20471	NCBI Gene Model | MGI Sequence Detail	4886	C57BL/6J
transcript	NM_009189	RefSeq | MGI Sequence Detail	2849	C57BL/6
polypeptide	Q62231	UniProt | EBI | MGI Sequence Detail	284	Not Applicable

All sequences(33) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(11 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017970	Homeobox, conserved site
InterPro	IPR001356	Homeodomain
InterPro	IPR009057	Homeodomain-like
Protein Ontology	PR:000014896	homeobox protein SIX1

Graphical View of Protein Domain Structure

References

(Earliest) J:23775 Oliver G, et al., Homeobox genes and connective tissue patterning. Development. 1995 Mar;121(3):693-705
(Latest) J:193110 Griffin JN, et al., Fgf8 dosage determines midfacial integration and polarity within the nasal and optic capsules. Dev Biol. 2013 Feb 1;374(1):185-97
All references(115)

Other accession IDs

MGD-MRK-19688, MGI:2145072