| Tag | Content |
|---|---|
| Uniprot ID | Q3URK3; Q6ZPK2; Q9CY36; |
| Entrez ID | |
| Genbank protein ID | BAE24685.1; BAC98231.1; BAB27288.1; |
| Genbank nucleotide ID | NM_027384.1 |
| Ensembl protein ID | ENSMUSP00000059527 |
| Ensembl nucleotide ID | ENSMUSG00000047146 |
| Gene name | Methylcytosine dioxygenase TET1 |
| Gene symbol | Tet1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 22246904 |
| Functional description | Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, plays a more general role in chromatin regulation. Preferentially binds to CpG-rich sequences at promoters of both transcriptionally active and Polycomb-repressed genes. Involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT. Also involved in transcription repression of a subset of genes through recruitment of transcriptional repressors to promoters. Involved in the balance between pluripotency and lineage commitment of cells it plays a role in embryonic stem cells maintenance and inner cell mass cell specification. Plays an essential role in the tumorigenicity of glioblastoma cells. TET1-mediated production of 5hmC acts as a recruitment signal for the CHTOP-methylosome complex to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (By similarity). |
| Sequence | MSRSRPAKPS KSVKTKLQKK KDIQMKTKTS KQAVRHGASA KAVNPGKPKQ LIKRRDGKKE 60 TEDKTPTPAP SFLTRAGAAR MNRDRNQVLF QNPDSLTCNG FTMALRRTSL SWRLSQRPVV 120 TPKPKKVPPS KKQCTHNIQD EPGVKHSEND SVPSQHATVS PGTENGEQNR CLVEGESQEI 180 TQSCPVFEER IEDTQSCISA SGNLEAEISW PLEGTHCEEL LSHQTSDNEC TSPQECAPLP 240 QRSTSEVTSQ KNTSNQLADL SSQVESIKLS DPSPNPTGSD HNGFPDSSFR IVPELDLKTC 300 MPLDESVYPT ALIRFILAGS QPDVFDTKPQ EKTLITTPEQ VGSHPNQVLD ATSVLGQAFS 360 TLPLQWGFSG ANLVQVEALG KGSDSPEDLG AITMLNQQET VAMDMDRNAT PDLPIFLPKP 420 PNTVATYSSP LLGPEPHSST SCGLEVQGAT PILTLDSGHT PQLPPNPESS SVPLVIAANG 480 TRAEKQFGTS LFPAVPQGFT VAAENEVQHA PLDLTQGSQA APSKLEGEIS RVSITGSADV 540 KATAMSMPVT QASTSSPPCN STPPMVERRK RKACGVCEPC QQKANCGECT YCKNRKNSHQ 600 ICKKRKCEVL KKKPEATSQA QVTKENKRPQ REKKPKVLKT DFNNKPVNGP KSESMDCSRR 660 GHGEEEQRLD LITHPLENVR KNAGGMTGIE VEKWAPNKKS HLAEGQVKGS CDANLTGVEN 720 PQPSEDDKQQ TNPSPTFAQT IRNGMKNVHC LPTDTHLPLN KLNHEEFSKA LGNNSSKLLT 780 DPSNCKDAMS VTTSGGECDH LKGPRNTLLF QKPGLNCRSG AEPTIFNNHP NTHSAGSRPH 840 PPEKVPNKEP KDGSPVQPSL LSLMKDRRLT LEQVVAIEAL TQLSEAPSES SSPSKPEKDE 900 EAHQKTASLL NSCKAILHSV RKDLQDPNVQ GKGLHHDTVV FNGQNRTFKS PDSFATNQAL 960 IKSQGYPSSP TAEKKGAAGG RAPFDGFENS HPLPIESHNL ENCSQVLSCD QNLSSHDPSC 1020 QDAPYSQIEE DVAAQLTQLA STINHINAEV RNAESTPESL VAKNTKQKHS QEKRMVHQKP 1080 PSSTQTKPSV PSAKPKKAQK KARATPHANK RKKKPPARSS QENDQKKQEQ LAIEYSKMHD 1140 IWMSSKFQRF GQSSPRSFPV LLRNIPVFNQ ILKPVTQSKT PSQHNELFPP INQIKFTRNP 1200 ELAKEKVKVE PSDSLPTCQF KTESGGQTFA EPADNSQGQP MVSVNQEAHP LPQSPPSNQC 1260 ANIMAGAAQT QFHLGAQENL VHQIPPPTLP GTSPDTLLPD PASILRKGKV LHFDGITVVT 1320 EKREAQTSSN GPLGPTTDSA QSEFKESIMD LLSKPAKNLI AGLKEQEAAP CDCDGGTQKE 1380 KGPYYTHLGA GPSVAAVREL METRFGQKGK AIRIEKIVFT GKEGKSSQGC PVAKWVIRRS 1440 GPEEKLICLV RERVDHHCST AVIVVLILLW EGIPRLMADR LYKELTENLR SYSGHPTDRR 1500 CTLNKKRTCT CQGIDPKTCG ASFSFGCSWS MYFNGCKFGR SENPRKFRLA PNYPLHEKQL 1560 EKNLQELATV LAPLYKQMAP VAYQNQVEYE EVAGDCRLGN EEGRPFSGVT CCMDFCAHSH 1620 KDIHNMHNGS TVVCTLIRAD GRDTNCPEDE QLHVLPLYRL ADTDEFGSVE GMKAKIKSGA 1680 IQVNGPTRKR RLRFTEPVPR CGKRAKMKQN HNKSGSHNTK SFSSASSTSH LVKDESTDFC 1740 PLQASSAETS TCTYSKTASG GFAETSSILH CTMPSGAHSG ANAAAGECTG TVQPAEVAAH 1800 PHQSLPTADS PVHAEPLTSP SEQLTSNQSN QQLPLLSNSQ KLASCQVEDE RHPEADEPQH 1860 PEDDNLPQLD EFWSDSEEIY ADPSFGGVAI APIHGSVLIE CARKELHATT SLRSPKRGVP 1920 FRVSLVFYQH KSLNKPNHGF DINKIKCKCK KVTKKKPADR ECPDVSPEAN LSHQIPSRVA 1980 STLTRDNVVT VSPYSLTHVA GPYNRWV 2007 |
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.