Homeobox protein SIX1

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

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)[1] Band 14q23.1 Start 60,643,421 bp[1] End 60,658,259 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 C3|12 30.34 cM Start 73,086,789 bp[2] End 73,100,661 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 6495 20471 Ensembl ENSG00000126778 ENSMUSG00000051367 UniProt Q15475 Q62231 RefSeq (mRNA) NM_005982 NM_009189 RefSeq (protein) NP_005973 NP_033215 Location (UCSC) Chr 14: 60.64 – 60.66 Mb Chr 12: 73.09 – 73.1 Mb PubMed search [3] [4]
Wikidata
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Function

The vertebrate SIX genes are homologs of the Drosophila 'sine oculis' (so) gene, which is expressed primarily in the developing visual system of the fly. Members of the SIX gene family encode proteins that are characterized by a divergent DNA-binding homeodomain and an upstream SIX domain, which may be involved both in determining DNA-binding specificity and in mediating protein–protein interactions. Genes in the SIX family have been shown to play roles in vertebrate and insect development or have been implicated in maintenance of the differentiated state of tissues.[supplied by OMIM]^[7]

Interactions

SIX1 has been shown to interact with EYA1,^[8] DACH, GRO and MDFI.^[9]