| Gene Symbol |
Six4
|
| Entrez Gene |
20474
|
| Alt Symbol |
AI047561, AREC3, TrexBF
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
sine oculis-related homeobox 4
|
| Other Description |
homeobox protein SIX4|sine oculis homeobox homolog 4|sine oculis-related homeobox 4 homolog|skeletal muscle-specific ARE-binding protein AREC3
|
| Swissprots |
Q61321 Q61322 B2RQH3 Q61323
|
| Accessions |
EDL36514 Q61321 BC137931 AAI37932 BC137934 AAI37935 D50416 BAA08915 D50417 BAA08916 D50418 BAA08917 XM_006515632 XP_006515695 NM_011382 NP_035512
|
| Function |
Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a DNA sequence on these target genes and is involved in processes like cell differentiation, cell migration and cell survival. Transactivates gene expression by binding a 5'-[CAT]A[CT][CT][CTG]GA[GAT]-3' motif present in the Trex site and from a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 site of the muscle-specific genes enhancer (PubMed:14966291). Acts cooperatively with EYA proteins to transactivate their target genes through interaction and nuclear translocation of EYA protein (PubMed:10490620). Acts synergistically with SIX1 to regulate target genes involved in formation of various organs, including muscle, kidney, gonad, ganglia, olfactory epithelium and cranial skeleton. Plays a role in several important steps of muscle development. Controls the genesis of hypaxial myogenic progenitors in the dermomyotome by transactivating PAX3 and the delamination and migration of the hypax
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:8628654, ECO:0000269|PubMed:9990334}. Cytoplasm {ECO:0000269|PubMed:8628654, ECO:0000269|PubMed:9990334}.
|
| Tissue Specificity |
Mainly expressed in the skeletal muscle (isoform 1 and isoform 2 but not isoform 3), and weakly in the heart. Also found in the retina and the distal tube of kidney. Expressed in skeletal muscle, nasal epithelium, cochlea, parathyroid and salivary gland (PubMed:11313460). Expressed in muscle satellite cells of normal and regenerating muscles (PubMed:20696153). {ECO:0000269|PubMed:11313460, ECO:0000269|PubMed:20696153}.
|
| Top Pathways |
Transcriptional misregulation in cancer
|