| Tag | Content |
|---|---|
| Uniprot ID | P40645; Q62250; Q9QWS5; |
| Entrez ID | 20679 |
| Genbank protein ID | AAC52263.1; BAA09618.1; CAA46610.1; CAA09270.1; |
| Genbank nucleotide ID | XM_011241707.2; NM_001277328.1; NM_001277326.1; NM_011445.4; XM_011241711.2; |
| Ensembl protein ID | ENSMUSP00000072583; ENSMUSP00000129027; |
| Ensembl nucleotide ID | ENSMUSG00000051910 |
| Gene name | Transcription factor SOX-6 |
| Gene symbol | Sox6 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 11702786 |
| Functional description | Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (PubMed:7567444, PubMed:11702786, PubMed:15529345, PubMed:26525805). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis (PubMed:9755172, PubMed:11702786). Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate (PubMed:11702786, PubMed:15529345, PubMed:26150426). Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes (PubMed:14993235, PubMed:26150426). Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts (PubMed:14993235). Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube (PubMed:26525805). Binds to the gene promoter of MBP and acts as a transcriptional repressor (PubMed:26525805). |
| Sequence | MSSKQATSPF ACTADGEEAM TQDLTSREKE EGSDQHPASH LPLHPIMHNK PHSEELPTLV 60 STIQQDADWD SVLSSQQRME SENNKLCSLY SFRNTSTSPH KPDEGSRERE IMNSVTFGTP 120 ERRKGSLADV VDTLKQKKLE EMTRTEQEDS SCMEKLLSKD WKEKMERLNT SELLGEIKGT 180 PESLAEKERQ LSTMITQLIS LREQLLAAHD EQKKLAASQI EKQRQQMDLA RQQQEQIARQ 240 QQQLLQQQHK INLLQQQIQV QGHMPPLMIP IFPHDQRTLA AAAAAQQGFL FPPGITYKPG 300 DNYPVQFIPS TMAAAAASGL SPLQLQKGHV SHPQINPRLK GISDRFGRNL DPSEHGGGHS 360 YNHRQIEQLY AAQLASMQVS PGAKMPSTPQ PPNSAGAVSP TGIKNEKRGT SPVTQVKDET 420 TAQPLNLSSR PKTAEPVKSP TSPTQNLFPA SKTSPVNLPN KSSIPSPIGG SLGRGSSLDI 480 LSSLNSPALF GDQDTVMKAI QEARKMREQI QREQQQQPHG VDGKLSSMNN MGLSNCRTEK 540 ERTRFENLGP QLTGKSSEDG KLGPGVIDLT RPEDAEGSKA MNGSAAKLQQ YYCWPTGGAT 600 VAEARVYRDA RGRASSEPHI KRPMNAFMVW AKDERRKILQ AFPDMHNSNI SKILGSRWKS 660 MSNQEKQPYY EEQARLSKIH LEKYPNYKYK PRPKRTCIVD GKKLRIGEYK QLMRSRRQEM 720 RQFFTVGQQP QMPITTGTGV VYPGAITMAT TTPSPQMTSD CSSTSASPEP SLPVIQSTYG 780 MKMDGASLAG NDMINGEDEM EAYDDYEDDP KSDYSSENEA PEPVSAN 827 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IMP |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IMP |
| GO:0003677 | DNA binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0003700 | DNA-binding transcription factor activity | IGI |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0044212 | transcription regulatory region DNA binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP |
| GO:0000902 | cell morphogenesis | IMP |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0006355 | regulation of transcription, DNA-templated | IDA |
| GO:0007417 | central nervous system development | IBA |
| GO:0009791 | post-embryonic development | IMP |
| GO:0010468 | regulation of gene expression | IMP |
| GO:0016458 | gene silencing | IMP |
| GO:0021529 | spinal cord oligodendrocyte cell differentiation | IMP |
| GO:0021778 | oligodendrocyte cell fate specification | IMP |
| GO:0030097 | hemopoiesis | IMP |
| GO:0030218 | erythrocyte differentiation | IMP |
| GO:0032332 | positive regulation of chondrocyte differentiation | ISO |
| GO:0032332 | positive regulation of chondrocyte differentiation | IDA |
| GO:0032332 | positive regulation of chondrocyte differentiation | IBA |
| GO:0042692 | muscle cell differentiation | IDA |
| GO:0045165 | cell fate commitment | IGI |
| GO:0045165 | cell fate commitment | IBA |
| GO:0045892 | negative regulation of transcription, DNA-templated | IDA |
| GO:0045892 | negative regulation of transcription, DNA-templated | IBA |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0048708 | astrocyte differentiation | ISO |
| GO:0048709 | oligodendrocyte differentiation | IMP |
| GO:0048821 | erythrocyte development | IMP |
| GO:0051216 | cartilage development | IGI |
| GO:0055007 | cardiac muscle cell differentiation | IDA |
| GO:0061036 | positive regulation of cartilage development | ISO |
| GO:0071560 | cellular response to transforming growth factor beta stimulus | ISO |
| GO:2000726 | negative regulation of cardiac muscle cell differentiation | ISO |
| GO:2000741 | positive regulation of mesenchymal stem cell differentiation | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IC |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005667 | transcription factor complex | IC |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-195721 | Signaling by WNT | IEA |
| R-MMU-201681 | TCF dependent signaling in response to WNT | IEA |
| R-MMU-3769402 | Deactivation of the beta-catenin transactivating complex | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0010 | Activator |
| KW-0025 | Alternative splicing |
| KW-0175 | Coiled coil |
| KW-0217 | Developmental protein |
| KW-0221 | Differentiation |
| KW-0903 | Direct protein sequencing |
| KW-0238 | DNA-binding |
| KW-1017 | Isopeptide bond |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0678 | Repressor |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0832 | Ubl conjugation |
| PROSITE ID | PROSITE Term |
|---|---|
| PS50118 | HMG_BOX_2 |
| Pfam ID | Pfam Term |
|---|---|
| PF00505 | HMG_box |