• Gene id: 6495

Gene Summary

• Gene Symbol: SIX1   Gene   UCSC   Ensembl
• Aliases: BOS3, DFNA23, TIP39
• Gene name: SIX homeobox 1
• Alternate names: homeobox protein SIX1, sine oculis homeobox homolog 1,
• Gene location: 14q23.1 (60649488: 60643420)     Exons: 2     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene
• OMIM: 606755

Protein Summary

• Protein general information: Q15475  
  • Name: Homeobox protein SIX1 (Sine oculis homeobox homolog 1)
  • Length: 284  
  • Mass: 32210
  • Tissue specificity: Specifically expressed in skeletal muscle.
• Sequence:

  MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKILESHQF
  SPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLREWYAHNPYPS
  PREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQS
  PDQNSVLLLQGNMGHARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR031278  IPR031701  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 4EGC
  • PDBsum: 4EGC
  • DIP: 34448
  • STRING: ENSP00000247182
• Other Databases: GeneCards:  SIX1  Malacards:  SIX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048856	anatomical structure development	IBA	biological process
GO:0007519	skeletal muscle tissue development	IBA	biological process
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0048741	skeletal muscle fiber development	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0014857	regulation of skeletal muscle cell proliferation	IBA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001223	transcription coactivator binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:1905243	cellular response to 3,3',5-triiodo-L-thyronine	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001759	organ induction	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0014842	regulation of skeletal muscle satellite cell proliferation	IEA	biological process
GO:0021610	facial nerve morphogenesis	IEA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0030910	olfactory placode formation	IEA	biological process
GO:0032880	regulation of protein localization	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043586	tongue development	IEA	biological process
GO:0045664	regulation of neuron differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0051451	myoblast migration	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0061197	fungiform papilla morphogenesis	IEA	biological process
GO:0061551	trigeminal ganglion development	IEA	biological process
GO:0071599	otic vesicle development	IEA	biological process
GO:0072075	metanephric mesenchyme development	IEA	biological process
GO:0072107	positive regulation of ureteric bud formation	IEA	biological process
GO:0072513	positive regulation of secondary heart field cardioblast proliferation	IEA	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008582	regulation of synaptic growth at neuromuscular junction	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048699	generation of neurons	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0061055	myotome development	IEA	biological process
GO:0072095	regulation of branch elongation involved in ureteric bud branching	IEA	biological process
GO:0072172	mesonephric tubule formation	IEA	biological process
GO:0072193	ureter smooth muscle cell differentiation	IEA	biological process
GO:0090336	positive regulation of brown fat cell differentiation	IEA	biological process
GO:2000729	positive regulation of mesenchymal cell proliferation involved in ureter development	IEA	biological process
GO:2001014	regulation of skeletal muscle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0072095	regulation of branch elongation involved in ureteric bud branching	ISS	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	ISS	biological process
GO:0048699	generation of neurons	ISS	biological process
GO:0048538	thymus development	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0030878	thyroid gland development	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0001822	kidney development	ISS	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072075	metanephric mesenchyme development	ISS	biological process
GO:0048839	inner ear development	ISS	biological process
GO:0048704	embryonic skeletal system morphogenesis	ISS	biological process
GO:0045664	regulation of neuron differentiation	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0007519	skeletal muscle tissue development	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072172	mesonephric tubule formation	ISS	biological process
GO:0042472	inner ear morphogenesis	ISS	biological process
GO:0001657	ureteric bud development	ISS	biological process
GO:0072107	positive regulation of ureteric bud formation	ISS	biological process
GO:0051451	myoblast migration	ISS	biological process
GO:0030855	epithelial cell differentiation	ISS	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0005667	transcription regulator complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001759	organ induction	ISS	biological process
GO:0090336	positive regulation of brown fat cell differentiation	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048856	anatomical structure development	IBA	biological process
GO:0007519	skeletal muscle tissue development	IBA	biological process
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0048741	skeletal muscle fiber development	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0014857	regulation of skeletal muscle cell proliferation	IBA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001223	transcription coactivator binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:1905243	cellular response to 3,3',5-triiodo-L-thyronine	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001759	organ induction	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0014842	regulation of skeletal muscle satellite cell proliferation	IEA	biological process
GO:0021610	facial nerve morphogenesis	IEA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0030910	olfactory placode formation	IEA	biological process
GO:0032880	regulation of protein localization	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043586	tongue development	IEA	biological process
GO:0045664	regulation of neuron differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0051451	myoblast migration	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0061197	fungiform papilla morphogenesis	IEA	biological process
GO:0061551	trigeminal ganglion development	IEA	biological process
GO:0071599	otic vesicle development	IEA	biological process
GO:0072075	metanephric mesenchyme development	IEA	biological process
GO:0072107	positive regulation of ureteric bud formation	IEA	biological process
GO:0072513	positive regulation of secondary heart field cardioblast proliferation	IEA	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008582	regulation of synaptic growth at neuromuscular junction	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048699	generation of neurons	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0061055	myotome development	IEA	biological process
GO:0072095	regulation of branch elongation involved in ureteric bud branching	IEA	biological process
GO:0072172	mesonephric tubule formation	IEA	biological process
GO:0072193	ureter smooth muscle cell differentiation	IEA	biological process
GO:0090336	positive regulation of brown fat cell differentiation	IEA	biological process
GO:2000729	positive regulation of mesenchymal cell proliferation involved in ureter development	IEA	biological process
GO:2001014	regulation of skeletal muscle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0072095	regulation of branch elongation involved in ureteric bud branching	ISS	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	ISS	biological process
GO:0048699	generation of neurons	ISS	biological process
GO:0048538	thymus development	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0030878	thyroid gland development	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0001822	kidney development	ISS	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072075	metanephric mesenchyme development	ISS	biological process
GO:0048839	inner ear development	ISS	biological process
GO:0048704	embryonic skeletal system morphogenesis	ISS	biological process
GO:0045664	regulation of neuron differentiation	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0007519	skeletal muscle tissue development	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072172	mesonephric tubule formation	ISS	biological process
GO:0042472	inner ear morphogenesis	ISS	biological process
GO:0001657	ureteric bud development	ISS	biological process
GO:0072107	positive regulation of ureteric bud formation	ISS	biological process
GO:0051451	myoblast migration	ISS	biological process
GO:0030855	epithelial cell differentiation	ISS	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0005667	transcription regulator complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001759	organ induction	ISS	biological process
GO:0090336	positive regulation of brown fat cell differentiation	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Branchio-oto-renal syndrome	KEGG:H00453
Deafness, autosomal dominant	KEGG:H00604
Branchio-oto-renal syndrome	KEGG:H00453
Branchiootorenal syndrome	PMID:18330911
Breast cancer	PMID:9770533
nephroblastoma	PMID:22180226
nephroblastoma	PMID:25670083
Neurilemmoma	PMID:19901965
ovarian carcinoma	PMID:17409410
hepatocellular carcinoma	PMID:17008870
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881