Six1 sine oculis-related homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Six1provided by MGI
Official Full Name: sine oculis-related homeobox 1provided by MGI
Primary source: MGI:MGI:102780
See related: Ensembl:ENSMUSG00000051367 AllianceGenome:MGI:102780
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables DNA-binding transcription factor activity; chromatin binding activity; and sequence-specific DNA binding activity. Involved in several processes, including animal organ development; myotome development; and positive regulation of morphogenesis of an epithelium. Acts upstream of or within several processes, including animal organ development; positive regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; limb; and sensory organ. Used to study branchiootorenal syndrome. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 23; branchiootorenal syndrome; and nephroblastoma. Orthologous to human SIX1 (SIX homeobox 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 14.6), CNS E11.5 (RPKM 6.0) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C3; 12 30.34 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (73088601..73093486, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (73041827..73046712, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-128-3p alleviates airway inflammation in asthma by targeting SIX1 to regulate mitochondrial fission and fusion.
Title: miR-128-3p alleviates airway inflammation in asthma by targeting SIX1 to regulate mitochondrial fission and fusion.
Detrimental role of SIX1 in hepatic lipogenesis and fibrosis of non-alcoholic fatty liver disease.
Title: Detrimental role of SIX1 in hepatic lipogenesis and fibrosis of non-alcoholic fatty liver disease.
Sine oculis homeobox homolog 1 plays a critical role in pulmonary fibrosis.
Title: Sine oculis homeobox homolog 1 plays a critical role in pulmonary fibrosis.
Hsa_circ_0017639 regulates cisplatin resistance and tumor growth via acting as a miR-1296-5p molecular sponge and modulating sine oculis homeobox 1 expression in non-small cell lung cancer.
Title: Hsa_circ_0017639 regulates cisplatin resistance and tumor growth via acting as a miR-1296-5p molecular sponge and modulating sine oculis homeobox 1 expression in non-small cell lung cancer.
SIX1 reprograms myogenic transcription factors to maintain the rhabdomyosarcoma undifferentiated state.
Title: SIX1 reprograms myogenic transcription factors to maintain the rhabdomyosarcoma undifferentiated state.
SIX1 cooperates with RUNX1 and SMAD4 in cell fate commitment of Mullerian duct epithelium.
Title: SIX1 cooperates with RUNX1 and SMAD4 in cell fate commitment of Müllerian duct epithelium.
Reciprocal regulation of pancreatic ductal adenocarcinoma growth and molecular subtype by HNF4alpha and SIX1/4.
Title: Reciprocal regulation of pancreatic ductal adenocarcinoma growth and molecular subtype by HNF4α and SIX1/4.
Six1 is required for signaling center formation and labial-lingual asymmetry in developing lower incisors.
Title: Six1 is required for signaling center formation and labial-lingual asymmetry in developing lower incisors.
Six1 Promotes Epithelial-Mesenchymal Transition in Bronchial Epithelial Cells via the TGFbeta1/Smad Signalling Pathway.
Title: Six1 Promotes Epithelial-Mesenchymal Transition in Bronchial Epithelial Cells via the TGFβ1/Smad Signalling Pathway.
SIX1 represses senescence and promotes SOX2-mediated cellular plasticity during tumorigenesis.
Title: SIX1 represses senescence and promotes SOX2-mediated cellular plasticity during tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (73)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (12) 1 citation
Endonuclease-mediated (6) 1 citation
Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB138287 (e-PCR)
- UniSTS:185933

Six1 (e-PCR), detects polymorphism
- UniSTS:515984

X80339 (e-PCR)
- UniSTS:125860

X80339 (e-PCR)
- UniSTS:163527

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IGI Inferred from Genetic Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anatomical structure development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within aorta morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within branching involved in ureteric bud morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to 3,3',5-triiodo-L-thyronine	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in endothelin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within facial nerve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fungiform papilla morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in generation of neurons	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mesenchymal cell proliferation involved in ureter development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mesonephric tubule formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric mesenchyme development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within middle ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myoblast migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of myoblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in myotome development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in neural crest cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate specification	IGI Inferred from Genetic Interaction more info	PubMed
involved_in olfactory placode formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within organ induction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within otic vesicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within otic vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within outflow tract morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pharyngeal system development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in pharyngeal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of branching involved in ureteric bud morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of branching involved in ureteric bud morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of brown fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation involved in ureter development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of myoblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ureteric bud formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of branch elongation involved in ureteric bud branching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein localization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of skeletal muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of skeletal muscle cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of skeletal muscle satellite cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of synaptic assembly at neuromuscular junction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle tissue development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in specification of segmental identity, maxillary segment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thymus development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within thymus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thyroid gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tongue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in trigeminal ganglion development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ureter smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ureteric bud development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ureteric bud development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: homeobox protein SIX1

Names: sine oculis homeobox homolog 1; sine oculis-related homeobox 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009189.3 → NP_033215.2 homeobox protein SIX1

See identical proteins and their annotated locations for NP_033215.2

Status: VALIDATED

Source sequence(s)

AK031122, AK131925, AV495228, BB031732, EH094589

Consensus CDS

CCDS25973.1

UniProtKB/Swiss-Prot

Q62231, Q8CIL7

UniProtKB/TrEMBL

Q3V2C3, Q8BSP4

Related

ENSMUSP00000059026.7, ENSMUST00000050029.8

Conserved Domains (2) summary

cd00086
Location:129 → 180

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam16878
Location:9 → 118

SIX1_SD; Transcriptional regulator, SIX1, N-terminal SD domain