| Tag | Content |
|---|---|
| UniProt Accession | SIX3_HUMAN; O95343; |
| Entrez ID | 6496 |
| GenBank Protein ID | |
| GenBank Nucleotide ID | |
| Protein Name | Homeobox protein SIX3 (Sine oculis homeobox homolog 3) |
| Gene Name | SIX3 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that in turn SHH maintains its expression. In addition, (view all) |
| Sequence (Fasta) | MVFRSPLDLY SSHFLLPNFA DSHHRSILLA SSGGGNGAGG GGGAGGGSGG GNGAGGGGAG 60 GAGGGGGGGS RAPPEELSMF QLPTLNFSPE QVASVCETLE ETGDIERLGR FLWSLPVAPG 120 ACEAINKHES ILRARAVVAF HTGNFRDLYH ILENHKFTKE SHGKLQAMWL EAHYQEAEKL 180 RGRPLGPVDK YRVRKKFPLP RTIWDGEQKT HCFKERTRSL LREWYLQDPY PNPSKKRELA 240 QATGLTPTQV GNWFKNRRQR DRAAAAKNRL QHQAIGPSGM RSLAEPGCPT HGSAESPSTA 300 ASPTTSVSSL TERADTGTSI LSVTSSDSEC DV 333 |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 5) | MESH:C538514
; Familial schizencephaly MESH:D016142 ; Holoprosencephaly MESH:C563579 ; Holoprosencephaly 2 MESH:D008113 ; Liver Neoplasms MESH:D011230 ; Precancerous Conditions |
| HGMD (count: 58) (view all) | CD064630; Holoprosencephaly; Small deletions
CD093339; Holoprosencephaly ?; Small deletions CD991874; Holoprosencephaly; Small deletions CD093338; Holoprosencephaly ?; Small deletions CD086077; Holoprosencephaly; Small deletions CN044490; Holoprosencephaly; Gross insertions |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 7) (view all) | 149 TGNFRDLYHILENHK dbPAF
158 ILENHKFTKESHGKL dbPAF 225 RSLLREWYLQDPYPN dbPAF 26 FADSHHRSILLASSG dbPAF 290 LAEPGCPTHGSAESP dbPAF 302 ESPSTAASPTTSVSS dbPAF |
| Ubiquitination (count: 2) | 179 AHYQEAEKLRGRPLG PLMD
209 TIWDGEQKTHCFKER PLMD |
| Network | Interaction | ||
|---|---|---|---|
| A | B | Source | |