Homo sapiens L. (human) [HSA]

FULL NAME: Methylcytosine dioxygenase TET1


DESCRIPTION:
Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC). Might initiate a process leading to cytosine demethylation through deamination into 5-hydroxymethyluracil (5hmU) and subsequent replacement by unmethylated cytosine by the base excision repair system. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. Preferentially binds to CpG-rich sequences at promoters of both transcriptionally active and polycomb-repressed genes. By controlling the levels of 5mC and 5hmC at gene promoters, it may regulate the gene expression silencing induced by cytosine methylation. May have a dual function by also repressing the expression 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.
Tissue specificity: Expressed in fetal heart, lung and brain, and in adult skeletal muscle, thymus and ovary. Not detected in adult heart, lung or brain.

A chromosomal aberration involving TET1 may be a cause of acute leukemias. Translocation t(10;11)(q22;q23) with MLL. This is a rare chromosomal translocation 5' MLL-TET1 3'.

STRUCTURE SIMILARITY:
Contains 1 CXXC-type zinc finger.
Belongs to the TET family.


SUBUNIT STRUCTURE:
Interacts with SIN3A; recruits the transcriptional co-repressor SIN3A to gene promoters.


CATALYTIC ACTIVITY:
Methylcytosine + 2-oxoglutarate + O(2) = 5-hydroxymethylcytosine + succinate + CO(2). Binds 1 Fe2+ ion per subunit.


PROTEIN TYPE(S):
dioxygenase


RELATED DISEASE(S):
B-cell acute lymphoblastic leukemia (B-ALL)
T-cell acute lymphoblastic leukemia (T-ALL)


Amino acids sequence

        10         20         30         40         50         60
MSRSRHARPS RLVRKEDVNK KKKNSQLRKT TKGANKNVAS VKTLSPGKLK QLIQERDVKK
        70         80         90        100        110        120
KTEPKPPVPV RSLLTRAGAA RMNLDRTEVL FQNPESLTCN GFTMALRSTS LSRRLSQPPL
       130        140        150        160        170        180
VVAKSKKVPL SKGLEKQHDC DYKILPALGV KHSENDSVPM QDTQVLPDIE TLIGVQNPSL
       190        200        210        220        230        240
LKGKSQETTQ FWSQRVEDSK INIPTHSGPA AEILPGPLEG TRCGEGLFSE ETLNDTSGSP
       250        260        270        280        290        300
KMFAQDTVCA PFPQRATPKV TSQGNPSIQL EELGSRVESL KLSDSYLDPI KSEHDCYPTS
       310        320        330        340        350        360
SLNKVIPDLN LRNCLALGGS TSPTSVIKFL LAGSKQATLG AKPDHQEAFE ATANQQEVSD
       370        380        390        400        410        420
TTSFLGQAFG AIPHQWELPG ADPVHGEALG ETPDLPEIPG AIPVQGEVFG TILDQQETLG
       430        440        450        460        470        480
MSGSVVPDLP VFLPVPPNPI ATFNAPSKWP EPQSTVSYGL AVQGAIQILP LGSGHTPQSS
       490        500        510        520        530        540
SNSEKNSLPP VMAISNVENE KQVHISFLPA NTQGFPLAPE RGLFHASLGI AQLSQAGPSK
       550        560        570        580        590        600
SDRGSSQVSV TSTVHVVNTT VVTMPVPMVS TSSSSYTTLL PTLEKKKRKR CGVCEPCQQK
       610        620        630        640        650        660
TNCGECTYCK NRKNSHQICK KRKCEELKKK PSVVVPLEVI KENKRPQREK KPKVLKADFD
       670        680        690        700        710        720
NKPVNGPKSE SMDYSRCGHG EEQKLELNPH TVENVTKNED SMTGIEVEKW TQNKKSQLTD
       730        740        750        760        770        780
HVKGDFSANV PEAEKSKNSE VDKKRTKSPK LFVQTVRNGI KHVHCLPAET NVSFKKFNIE
       790        800        810        820        830        840
EFGKTLENNS YKFLKDTANH KNAMSSVATD MSCDHLKGRS NVLVFQQPGF NCSSIPHSSH
       850        860        870        880        890        900
SIINHHASIH NEGDQPKTPE NIPSKEPKDG SPVQPSLLSL MKDRRLTLEQ VVAIEALTQL
       910        920        930        940        950        960
SEAPSENSSP SKSEKDEESE QRTASLLNSC KAILYTVRKD LQDPNLQGEP PKLNHCPSLE
       970        980        990       1000       1010       1020
KQSSCNTVVF NGQTTTLSNS HINSATNQAS TKSHEYSKVT NSLSLFIPKS NSSKIDTNKS
      1030       1040       1050       1060       1070       1080
IAQGIITLDN CSNDLHQLPP RNNEVEYCNQ LLDSSKKLDS DDLSCQDATH TQIEEDVATQ
      1090       1100       1110       1120       1130       1140
LTQLASIIKI NYIKPEDKKV ESTPTSLVTC NVQQKYNQEK GTIQQKPPSS VHNNHGSSLT
      1150       1160       1170       1180       1190       1200
KQKNPTQKKT KSTPSRDRRK KKPTVVSYQE NDRQKWEKLS YMYGTICDIW IASKFQNFGQ
      1210       1220       1230       1240       1250       1260
FCPHDFPTVF GKISSSTKIW KPLAQTRSIM QPKTVFPPLT QIKLQRYPES AEEKVKVEPL
      1270       1280       1290       1300       1310       1320
DSLSLFHLKT ESNGKAFTDK AYNSQVQLTV NANQKAHPLT QPSSPPNQCA NVMAGDDQIR
      1330       1340       1350       1360       1370       1380
FQQVVKEQLM HQRLPTLPGI SHETPLPESA LTLRNVNVVC SGGITVVSTK SEEEVCSSSF
      1390       1400       1410       1420       1430       1440
GTSEFSTVDS AQKNFNDYAM NFFTNPTKNL VSITKDSELP TCSCLDRVIQ KDKGPYYTHL
      1450       1460       1470       1480       1490       1500
GAGPSVAAVR EIMENRYGQK GNAIRIEIVV YTGKEGKSSH GCPIAKWVLR RSSDEEKVLC
      1510       1520       1530       1540       1550       1560
LVRQRTGHHC PTAVMVVLIM VWDGIPLPMA DRLYTELTEN LKSYNGHPTD RRCTLNENRT
      1570       1580       1590       1600       1610       1620
CTCQGIDPET CGASFSFGCS WSMYFNGCKF GRSPSPRRFR IDPSSPLHEK NLEDNLQSLA
      1630       1640       1650       1660       1670       1680
TRLAPIYKQY APVAYQNQVE YENVARECRL GSKEGRPFSG VTACLDFCAH PHRDIHNMNN
      1690       1700       1710       1720       1730       1740
GSTVVCTLTR EDNRSLGVIP QDEQLHVLPL YKLSDTDEFG SKEGMEAKIK SGAIEVLAPR
      1750       1760       1770       1780       1790       1800
RKKRTCFTQP VPRSGKKRAA MMTEVLAHKI RAVEKKPIPR IKRKNNSTTT NNSKPSSLPT
      1810       1820       1830       1840       1850       1860
LGSNTETVQP EVKSETEPHF ILKSSDNTKT YSLMPSAPHP VKEASPGFSW SPKTASATPA
      1870       1880       1890       1900       1910       1920
PLKNDATASC GFSERSSTPH CTMPSGRLSG ANAAAADGPG ISQLGEVAPL PTLSAPVMEP
      1930       1940       1950       1960       1970       1980
LINSEPSTGV TEPLTPHQPN HQPSFLTSPQ DLASSPMEED EQHSEADEPP SDEPLSDDPL
      1990       2000       2010       2020       2030       2040
SPAEEKLPHI DEYWSDSEHI FLDANIGGVA IAPAHGSVLI ECARRELHAT TPVEHPNRNH
      2050       2060       2070       2080       2090       2100
PTRLSLVFYQ HKNLNKPQHG FELNKIKFEA KEAKNKKMKA SEQKDQAANE GPEQSSEVNE
      2110       2120       2130
LNQIPSHKAL TLTHDNVVTV SPYALTHVAG PYNHWV  

Encoded by TET1 gene

FULL NAME: tet oncogene 1


OTHER NAME(S):
CXXC6
FLJ10839
FLJ41442
KIAA1676
LCX
bA119F7.1


Nucleic acid sequence

        10         20         30         40         50         60
atgtctcgat cccgccatgc aaggccttcc agattagtca ggaaggaaga tgtaaacaaa
        70         80         90        100        110        120
aaaaagaaaa acagccaact acgaaagaca accaagggag ccaacaaaaa tgtggcatca
       130        140        150        160        170        180
gtcaagactt taagccctgg aaaattaaag caattaattc aagaaagaga tgttaagaaa
       190        200        210        220        230        240
aaaacagaac ctaaaccacc cgtgccagtc agaagccttc tgacaagagc tggagcagca
       250        260        270        280        290        300
cgcatgaatt tggataggac tgaggttctt tttcagaacc cagagtcctt aacctgcaat
       310        320        330        340        350        360
gggtttacaa tggcgctacg aagcacctct cttagcaggc gactctccca acccccactg
       370        380        390        400        410        420
gtcgtagcca aatccaaaaa ggttccactt tctaagggtt tagaaaagca acatgattgt
       430        440        450        460        470        480
gattataaga tactccctgc tttgggagta aagcactcag aaaatgattc ggttccaatg
       490        500        510        520        530        540
caagacaccc aagtccttcc tgatatagag actctaattg gtgtacaaaa tccctcttta
       550        560        570        580        590        600
cttaaaggta agagccaaga gacaactcag ttttggtccc aaagagttga ggattccaag
       610        620        630        640        650        660
atcaatatcc ctacccacag tggccctgca gctgagatcc ttcctgggcc actggaaggg
       670        680        690        700        710        720
acacgctgtg gtgaaggact attctctgaa gagacattga atgataccag tggttcccca
       730        740        750        760        770        780
aaaatgtttg ctcaggacac agtgtgtgct ccttttcccc aaagagcaac ccccaaagtt
       790        800        810        820        830        840
acctctcaag gaaaccccag cattcagtta gaagagttgg gttcacgagt agaatctctt
       850        860        870        880        890        900
aagttatctg attcttacct ggatcccatt aaaagtgaac atgattgcta ccccacctcc
       910        920        930        940        950        960
agtcttaata aggttatacc tgacttgaac cttagaaact gcttggctct tggtgggtct
       970        980        990       1000       1010       1020
acgtctccta cctctgtaat aaaattcctc ttggcaggct caaaacaagc gacccttggt
      1030       1040       1050       1060       1070       1080
gctaaaccag atcatcaaga ggccttcgaa gctactgcaa atcaacagga agtttctgat
      1090       1100       1110       1120       1130       1140
accacctctt tcctaggaca ggcctttggt gctatcccac atcaatggga acttcctggt
      1150       1160       1170       1180       1190       1200
gctgacccag ttcatggtga ggccctgggt gagaccccag atctaccaga gattcctggt
      1210       1220       1230       1240       1250       1260
gctattccag tccaaggaga ggtctttggt actattttag accaacaaga aactcttggt
      1270       1280       1290       1300       1310       1320
atgagtggga gtgttgtccc agacttgcct gtcttccttc ctgttcctcc aaatccaatt
      1330       1340       1350       1360       1370       1380
gctaccttta atgctccttc caaatggcct gagccccaaa gcactgtctc atatggactt
      1390       1400       1410       1420       1430       1440
gcagtccagg gtgctataca gattttgcct ttgggctcag gacacactcc tcaatcatca
      1450       1460       1470       1480       1490       1500
tcaaactcag agaaaaattc attacctcca gtaatggcta taagcaatgt agaaaatgag
      1510       1520       1530       1540       1550       1560
aagcaggttc atataagctt cctgccagct aacactcagg ggttcccatt agcccctgag
      1570       1580       1590       1600       1610       1620
agaggactct tccatgcttc actgggtata gcccaactct ctcaggctgg tcctagcaaa
      1630       1640       1650       1660       1670       1680
tcagacagag ggagctccca ggtcagtgta accagcacag ttcatgttgt caacaccaca
      1690       1700       1710       1720       1730       1740
gtggtgacta tgccagtgcc aatggtcagt acctcctctt cttcctatac cactttgcta
      1750       1760       1770       1780       1790       1800
ccgactttgg aaaagaagaa aagaaagcga tgtggggtct gtgaaccctg ccagcagaag
      1810       1820       1830       1840       1850       1860
accaactgtg gtgaatgcac ttactgcaag aacagaaaga acagccatca gatctgtaag
      1870       1880       1890       1900       1910       1920
aaaagaaaat gtgaggagct gaaaaagaaa ccatctgttg ttgtgcctct ggaggttata
      1930       1940       1950       1960       1970       1980
aaggaaaaca agaggcccca gagggaaaag aagcccaaag ttttaaaggc agattttgac
      1990       2000       2010       2020       2030       2040
aacaaaccag taaatggccc caagtcagaa tccatggact acagtagatg tggtcatggg
      2050       2060       2070       2080       2090       2100
gaagaacaaa aattggaatt gaacccacat actgttgaaa atgtaactaa aaatgaagac
      2110       2120       2130       2140       2150       2160
agcatgacag gcatcgaggt ggagaagtgg acacaaaaca agaaatcaca gttaactgat
      2170       2180       2190       2200       2210       2220
cacgtgaaag gagattttag tgctaatgtc ccagaagctg aaaaatcgaa aaactctgaa
      2230       2240       2250       2260       2270       2280
gttgacaaga aacgaaccaa atctccaaaa ttgtttgtac aaaccgtaag aaatggcatt
      2290       2300       2310       2320       2330       2340
aaacatgtac actgtttacc agctgaaaca aatgtttcat ttaaaaaatt caatattgaa
      2350       2360       2370       2380       2390       2400
gaattcggca agacattgga aaacaattct tataaattcc taaaagacac tgcaaaccat
      2410       2420       2430       2440       2450       2460
aaaaacgcta tgagctctgt tgctactgat atgagttgtg atcatctcaa ggggagaagt
      2470       2480       2490       2500       2510       2520
aacgttttag tattccagca gcctggcttt aactgcagtt ccattccaca ttcttcacac
      2530       2540       2550       2560       2570       2580
tccatcataa atcatcatgc tagtatacac aatgaaggtg atcaaccaaa aactcctgag
      2590       2600       2610       2620       2630       2640
aatataccaa gtaaagaacc aaaagatgga tctcccgttc aaccaagtct cttatcgtta
      2650       2660       2670       2680       2690       2700
atgaaagata ggagattaac attggagcaa gtggtagcca tagaggccct gactcaactc
      2710       2720       2730       2740       2750       2760
tcagaagccc catcagagaa ttcctcccca tcaaagtcag agaaggatga ggaatcagag
      2770       2780       2790       2800       2810       2820
cagagaacag ccagtttgct taatagctgc aaagctatcc tctacactgt aagaaaagac
      2830       2840       2850       2860       2870       2880
ctccaagacc caaacttaca gggagagcca ccaaaactta atcactgtcc atctttggaa
      2890       2900       2910       2920       2930       2940
aaacaaagtt catgcaacac ggtggttttc aatgggcaaa ctactaccct ttccaactca
      2950       2960       2970       2980       2990       3000
catatcaact cagctactaa ccaagcatcc acaaagtcac atgaatattc aaaagtcaca
      3010       3020       3030       3040       3050       3060
aattcattat ctctttttat accaaaatca aattcatcca agattgacac caataaaagt
      3070       3080       3090       3100       3110       3120
attgctcaag ggataattac tcttgacaat tgttccaatg atttgcatca gttgccacca
      3130       3140       3150       3160       3170       3180
agaaataatg aagtggagta ttgcaaccag ttactggaca gcagcaaaaa attggactca
      3190       3200       3210       3220       3230       3240
gatgatctat catgtcagga tgcaacccat acccaaattg aggaagatgt tgcaacacag
      3250       3260       3270       3280       3290       3300
ttgacacaac ttgcttcgat aattaagatc aattatataa aaccagagga caaaaaagtt
      3310       3320       3330       3340       3350       3360
gaaagtacac caacaagcct tgtcacatgt aatgtacagc aaaaatacaa tcaggagaag
      3370       3380       3390       3400       3410       3420
ggcacaatac aacagaaacc accttcaagt gtacacaata atcatggttc atcattaaca
      3430       3440       3450       3460       3470       3480
aaacaaaaga acccaaccca gaaaaagaca aaatccaccc catcaagaga tcggcggaaa
      3490       3500       3510       3520       3530       3540
aagaagccca cagttgtaag ttatcaagaa aatgatcggc agaagtggga aaagttgtcc
      3550       3560       3570       3580       3590       3600
tatatgtatg gcacaatatg cgacatttgg atagcatcga aatttcaaaa ttttgggcaa
      3610       3620       3630       3640       3650       3660
ttttgtccac atgattttcc tactgtattt gggaaaattt cttcctcgac caaaatatgg
      3670       3680       3690       3700       3710       3720
aaaccactgg ctcaaacgag gtccattatg caacccaaaa cagtatttcc accactcact
      3730       3740       3750       3760       3770       3780
cagataaaat tacagagata tcctgaatca gcagaggaaa aggtgaaggt tgaaccattg
      3790       3800       3810       3820       3830       3840
gattcactca gcttatttca tcttaaaacg gaatccaacg ggaaggcatt cactgataaa
      3850       3860       3870       3880       3890       3900
gcttataatt ctcaggtaca gttaacggtg aatgccaatc agaaagccca tcctttgacc
      3910       3920       3930       3940       3950       3960
cagccctcct ctccacctaa ccagtgtgct aacgtgatgg caggcgatga ccaaatacgg
      3970       3980       3990       4000       4010       4020
tttcagcagg ttgttaagga gcaactcatg catcagagac tgccaacatt gcctggtatc
      4030       4040       4050       4060       4070       4080
tctcatgaaa cacccttacc ggagtcagca ctaactctca ggaatgtaaa tgtagtgtgt
      4090       4100       4110       4120       4130       4140
tcaggtggaa ttacagtggt ttctaccaaa agtgaagagg aagtctgttc atccagtttt
      4150       4160       4170       4180       4190       4200
ggaacatcag aattttccac agtggacagt gcacagaaaa attttaatga ttatgccatg
      4210       4220       4230       4240       4250       4260
aacttcttta ctaaccctac aaaaaaccta gtgtctataa ctaaagattc tgaactgccc
      4270       4280       4290       4300       4310       4320
acctgcagct gtcttgatcg agttatacaa aaagacaaag gcccatatta tacacacctt
      4330       4340       4350       4360       4370       4380
ggggcaggac caagtgttgc tgctgtcagg gaaatcatgg agaataggta tggtcaaaaa
      4390       4400       4410       4420       4430       4440
ggaaacgcaa taaggataga aatagtagtg tacaccggta aagaagggaa aagctctcat
      4450       4460       4470       4480       4490       4500
gggtgtccaa ttgctaagtg ggttttaaga agaagcagtg atgaagaaaa agttctttgt
      4510       4520       4530       4540       4550       4560
ttggtccggc agcgtacagg ccaccactgt ccaactgctg tgatggtggt gctcatcatg
      4570       4580       4590       4600       4610       4620
gtgtgggatg gcatccctct tccaatggcc gaccggctat acacagagct cacagagaat
      4630       4640       4650       4660       4670       4680
ctaaagtcat acaatgggca ccctaccgac agaagatgca ccctcaatga aaatcgtacc
      4690       4700       4710       4720       4730       4740
tgtacatgtc aaggaattga tccagagact tgtggagctt cattctcttt tggctgttca
      4750       4760       4770       4780       4790       4800
tggagtatgt actttaatgg ctgtaagttt ggtagaagcc caagccccag aagatttaga
      4810       4820       4830       4840       4850       4860
attgatccaa gctctccctt acatgaaaaa aaccttgaag ataacttaca gagtttggct
      4870       4880       4890       4900       4910       4920
acacgattag ctccaattta taagcagtat gctccagtag cttaccaaaa tcaggtggaa
      4930       4940       4950       4960       4970       4980
tatgaaaatg ttgcccgaga atgtcggctt ggcagcaagg aaggtcgtcc cttctctggg
      4990       5000       5010       5020       5030       5040
gtcactgctt gcctggactt ctgtgctcat ccccacaggg acattcacaa catgaataat
      5050       5060       5070       5080       5090       5100
ggaagcactg tggtttgtac cttaactcga gaagataacc gctctttggg tgttattcct
      5110       5120       5130       5140       5150       5160
caagatgagc agctccatgt gctacctctt tataagcttt cagacacaga tgagtttggc
      5170       5180       5190       5200       5210       5220
tccaaggaag gaatggaagc caagatcaaa tctggggcca tcgaggtcct ggcaccccgc
      5230       5240       5250       5260       5270       5280
cgcaaaaaaa gaacgtgttt cactcagcct gttccccgtt ctggaaagaa gagggctgcg
      5290       5300       5310       5320       5330       5340
atgatgacag aggttcttgc acataagata agggcagtgg aaaagaaacc tattccccga
      5350       5360       5370       5380       5390       5400
atcaagcgga agaataactc aacaacaaca aacaacagta agccttcgtc actgccaacc
      5410       5420       5430       5440       5450       5460
ttagggagta acactgagac cgtgcaacct gaagtaaaaa gtgaaaccga accccatttt
      5470       5480       5490       5500       5510       5520
atcttaaaaa gttcagacaa cactaaaact tattcgctga tgccatccgc tcctcaccca
      5530       5540       5550       5560       5570       5580
gtgaaagagg catctccagg cttctcctgg tccccgaaga ctgcttcagc cacaccagct
      5590       5600       5610       5620       5630       5640
ccactgaaga atgacgcaac agcctcatgc gggttttcag aaagaagcag cactccccac
      5650       5660       5670       5680       5690       5700
tgtacgatgc cttcgggaag actcagtggt gccaatgcag ctgctgctga tggccctggc
      5710       5720       5730       5740       5750       5760
atttcacagc ttggcgaagt ggctcctctc cccaccctgt ctgctcctgt gatggagccc
      5770       5780       5790       5800       5810       5820
ctcattaatt ctgagccttc cactggtgtg actgagccgc taacgcctca tcagccaaac
      5830       5840       5850       5860       5870       5880
caccagccct ccttcctcac ctctcctcaa gaccttgcct cttctccaat ggaagaagat
      5890       5900       5910       5920       5930       5940
gagcagcatt ctgaagcaga tgagcctcca tcagacgaac ccctatctga tgaccccctg
      5950       5960       5970       5980       5990       6000
tcacctgctg aggagaaatt gccccacatt gatgagtatt ggtcagacag tgagcacatc
      6010       6020       6030       6040       6050       6060
tttttggatg caaatattgg tggggtggcc atcgcacctg ctcacggctc ggttttgatt
      6070       6080       6090       6100       6110       6120
gagtgtgccc ggcgagagct gcacgctacc actcctgttg agcaccccaa ccgtaatcat
      6130       6140       6150       6160       6170       6180
ccaacccgcc tctcccttgt cttttaccag cacaaaaacc taaataagcc ccaacatggt
      6190       6200       6210       6220       6230       6240
tttgaactaa acaagattaa gtttgaggct aaagaagcta agaataagaa aatgaaggcc
      6250       6260       6270       6280       6290       6300
tcagagcaaa aagaccaggc agctaatgaa ggtccagaac agtcctctga agtaaatgaa
      6310       6320       6330       6340       6350       6360
ttgaaccaaa ttccttctca taaagcatta acattaaccc atgacaatgt tgtcaccgtg
      6370       6380       6390       6400       6410
tccccttatg ctctcacaca cgttgcgggg ccctataacc attgggtctg a

Last modification date: Nov. 10, 2011