Gene: Sox6

Basic information

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function


GO:Biological Process


GO:Cellular Component


Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction