| Tag | Content |
|---|---|
| Uniprot ID | P35710; O88184; O89018; |
| Entrez ID | 20678 |
| Genbank protein ID | CAA09269.1; CAA46609.1; CAA46608.1; BAA32567.1; |
| Genbank nucleotide ID | NM_001243163.1 |
| Ensembl protein ID | ENSMUSP00000107377 |
| Ensembl nucleotide ID | ENSMUSG00000041540 |
| Gene name | Transcription factor SOX-5 |
| Gene symbol | Sox5 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 11702786 |
| Functional description | Transcription factor involved in chondrocytes differentiation and cartilage formation (PubMed:1396566, PubMed:11702786, PubMed:8078769, PubMed:15529345, PubMed:14993235). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1 (PubMed:9755172, PubMed:11702786, PubMed:26150426). 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:14993235, PubMed:26150426). Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes (PubMed:14993235). Together with SOX6, 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 (PubMed:26525805). |
| Sequence | MLTDPDLPQE FERMSSKRPA SPYGETDGEV AMVTSRQKVE EEESERLPAF HLPLHVSFPN 60 KPHSEEFQPV SLLTQETCGP RTPTVQHNTM EVDGNKVMSS LSPYNSSTSP QKAEEGGRQS 120 GESVSSAALG TPERRKGSLA DVVDTLKQRK MEELIKNEPE DTPSIEKLLS KDWKDKLLAM 180 GSGNFGEIKG TPESLAEKER QLMGMINQLT SLREQLLAAH DEQKKLAASQ IEKQRQQMEL 240 AKQQQEQIAR QQQQLLQQQH KINLLQQQIQ VQGQLPPLMI PVFPPDQRTL AAAAQQGFLL 300 PPGFSYKAGC SDPYPVQLIP TTMAAAAAAT PGLGPLQLQQ FYAAQLAAMQ VSPGGKLLGL 360 PQGNLGAAVS PTSIHTDKST NSPPPKSKDE VAQPLNLSAK PKTSDGKSPA SPTSPHMPAL 420 RINSGAGPLK ASVPAALASP SARVSTIGYL NDHDAVTKAI QEARQMKEQL RREQQALDGK 480 VAVVNSIGLS NCRTEKEKTT LESLTQQLAV KQNEEGKFSH GMMDFNMSGD SDGSAGVSES 540 RIYRESRGRG SNEPHIKRPM NAFMVWAKDE RRKILQAFPD MHNSNISKIL GSRWKAMTNL 600 EKQPYYEEQA RLSKQHLEKY PDYKYKPRPK RTCLVDGKKL RIGEYKAIMR NRRQEMRQYF 660 NVGQQAQIPI ATAGVVYPSA IAMAGMPSPH LPSEHSSVSS SPEPGMPVIQ STYGAKGEEP 720 HIKEEIQAED INGEIYEEYD EEEEDPDVDY GSDSENHIAG QAN 763 |
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.
