Homeobox protein SIX1

SIX1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4EGC
Identifiers
Aliases	SIX1, BOS3, DFNA23, TIP39, SIX homeobox 1
External IDs	OMIM: 601205; MGI: 102780; HomoloGene: 4360; GeneCards: SIX1; OMA:SIX1 - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	60,658,259 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	73,100,661 bp
RNA expression pattern
	Top expressed in
	Skeletal muscle tissue of biceps brachii; ; parotid gland; ; Skeletal muscle tissue of rectus abdominis; ; bronchial epithelial cell; ; vastus lateralis muscle; ; body of tongue; ; muscle of thigh; ; olfactory zone of nasal mucosa; ; triceps brachii muscle; ; palpebral conjunctiva;
	Top expressed in
	lumbar spinal ganglion; ; extensor digitorum longus muscle; ; plantaris muscle; ; muscle of thigh; ; parotid gland; ; lacrimal gland; ; saccule; ; otic vesicle; ; soleus muscle; ; triceps brachii muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; sequence-specific DNA binding; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; chromatin binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific; transcription coactivator binding; transcription cis-regulatory region binding;
Cellular component	cytoplasm; transcription regulator complex; nucleolus; nucleus;
Biological process	pattern specification process; negative regulation of neuron apoptotic process; regulation of neuron differentiation; embryonic skeletal system morphogenesis; mesonephric tubule formation; neurogenesis; animal organ development; ureteric bud development; myoblast migration; positive regulation of branching involved in ureteric bud morphogenesis; renal system development; regulation of transcription, DNA-templated; epithelial cell differentiation; olfactory placode formation; regulation of skeletal muscle cell differentiation; tongue development; organ induction; kidney development; anatomical structure development; thymus development; ureter smooth muscle cell differentiation; neuron fate specification; myotome development; skeletal system morphogenesis; outflow tract morphogenesis; trigeminal ganglion development; negative regulation of apoptotic process; negative regulation of transcription by RNA polymerase II; hearing; aorta morphogenesis; regulation of branch elongation involved in ureteric bud branching; fungiform papilla morphogenesis; transcription, DNA-templated; generation of neurons; otic vesicle development; regulation of protein localization; positive regulation of transcription, DNA-templated; multicellular organism development; branching involved in ureteric bud morphogenesis; thyroid gland development; inner ear morphogenesis; cochlea morphogenesis; positive regulation of ureteric bud formation; positive regulation of mesenchymal cell proliferation involved in ureter development; middle ear morphogenesis; regulation of synaptic assembly at neuromuscular junction; protein localization to nucleus; regulation of gene expression; embryonic cranial skeleton morphogenesis; inner ear development; positive regulation of secondary heart field cardioblast proliferation; negative regulation of branching involved in ureteric bud morphogenesis; cell population proliferation; regulation of epithelial cell proliferation; regulation of skeletal muscle satellite cell proliferation; skeletal muscle tissue development; metanephric mesenchyme development; facial nerve morphogenesis; positive regulation of transcription by RNA polymerase II; pharyngeal system development; apoptotic process; transcription by RNA polymerase II; cellular response to 3,3',5-triiodo-L-thyronine; negative regulation of transcription, DNA-templated; regulation of skeletal muscle cell proliferation; skeletal muscle fiber development;
	Sources:Amigo / QuickGO
Orthologs
	6495
	20471
	ENSG00000126778
	ENSMUSG00000051367
	Q15475
	Q62231
	NM_005982
	NM_009189
	NP_005973
	NP_033215
	Wikidata
View/Edit Human	View/Edit Mouse

Homeobox protein SIX1 (Sine oculis homeobox homolog 1) is a protein that in humans is encoded by the SIX1 gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000126778 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000051367 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Boucher CA, Carey N, Edwards YH, Siciliano MJ, Johnson KJ (April 1996). "Cloning of the human SIX1 gene and its assignment to chromosome 14". Genomics. 33 (1): 140–2. doi:10.1006/geno.1996.0172. PMID 8617500.
^ Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy of Sciences of the United States of America. 101 (21): 8090–5. Bibcode:2004PNAS..101.8090R. doi:10.1073/pnas.0308475101. PMC 419562. PMID 15141091.
^ "Entrez Gene: SIX1 sine oculis homeobox homolog 1 (Drosophila)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000126778 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000051367 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8617500-5] Boucher CA, Carey N, Edwards YH, Siciliano MJ, Johnson KJ (April 1996). "Cloning of the human SIX1 gene and its assignment to chromosome 14". Genomics. 33 (1): 140–2. doi:10.1006/geno.1996.0172. PMID 8617500.

[pmid15141091-6] Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy of Sciences of the United States of America. 101 (21): 8090–5. Bibcode:2004PNAS..101.8090R. doi:10.1073/pnas.0308475101. PMC 419562. PMID 15141091.

[entrez-7] "Entrez Gene: SIX1 sine oculis homeobox homolog 1 (Drosophila)".

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