Gene: Tet1

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTET1102186373A0A452E1W7Capra hircusPredictionMore>>
1:1 orthologTET180312Q8NFU7Homo sapiensPredictionMore>>
1:1 orthologTet1Q3URK3CPOMus musculusPublicationMore>>
1:1 orthologTET1450497H2Q1Z7Pan troglodytesPredictionMore>>
1:1 orthologTET1F1SUI3Sus scrofaPredictionMore>>
1:1 orthologTet1F1LUQ3Rattus norvegicusPredictionMore>>
1:1 orthologtet1101883702F1R3C6Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003677 DNA bindingISS
GO:0003677 DNA bindingISO
GO:0005506 iron ion bindingISS
GO:0005506 iron ion bindingISO
GO:0005506 iron ion bindingIBA
GO:0005515 protein bindingIPI
GO:0008270 zinc ion bindingISS
GO:0008270 zinc ion bindingISO
GO:0008327 methyl-CpG bindingISS
GO:0008327 methyl-CpG bindingISO
GO:0070579 methylcytosine dioxygenase activityISS
GO:0070579 methylcytosine dioxygenase activityISO
GO:0070579 methylcytosine dioxygenase activityIDA
GO:0070579 methylcytosine dioxygenase activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0001826 inner cell mass cell differentiationIMP
GO:0006211 5-methylcytosine catabolic processIBA
GO:0006325 chromatin organizationIEA
GO:0006493 protein O-linked glycosylationIMP
GO:0008284 positive regulation of cell population proliferationISS
GO:0008284 positive regulation of cell population proliferationISO
GO:0019827 stem cell population maintenanceIMP
GO:0031062 positive regulation of histone methylationISS
GO:0031062 positive regulation of histone methylationISO
GO:0035511 oxidative DNA demethylationTAS
GO:0044030 regulation of DNA methylationIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0048813 dendrite morphogenesisIMP
GO:0070989 oxidative demethylationIBA
GO:0080111 DNA demethylationISO
GO:0080111 DNA demethylationIMP
GO:0080111 DNA demethylationIDA
GO:0080111 DNA demethylationIBA
GO:0090310 negative regulation of methylation-dependent chromatin silencingISO
GO:2000653 regulation of genetic imprintingIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmTAS

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0010 Activator
KW-0156 Chromatin regulator
KW-0223 Dioxygenase
KW-0238 DNA-binding
KW-0325 Glycoprotein
KW-0408 Iron
KW-0479 Metal-binding
KW-0539 Nucleus
KW-0560 Oxidoreductase
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0678 Repressor
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR024779 2OGFeDO_noxygenase_dom
IPR040175 TET1/2/3
IPR002857 Znf_CXXC

PROSITE

PROSITE ID PROSITE Term
PS51058 ZF_CXXC

Pfam

Pfam ID Pfam Term
PF12851 Tet_JBP
PF02008 zf-CXXC

Protein-miRNA interaction