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Gene id

80312

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TET1 Gene UCSC Ensembl

Aliases

CXXC6, LCX, bA119F7.1

Gene name

tet methylcytosine dioxygenase 1

Alternate names

methylcytosine dioxygenase TET1, CXXC finger 6, CXXC zinc finger 6, CXXC-type zinc finger protein 6, TET1 splice variant VP_DE4, TET1 splice variant VP_DE456, leukemia-associated protein with a CXXC domain, ten-eleven translocation 1 gene protein, ten-eleven translocation-1, tet oncogene 1,

Gene location

10q21.3 (105145874: 105279802) Exons: 12 NC_000004.12

Gene summary(Entrez)

DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]

OMIM

607790

Protein Summary

Protein general information

Q8NFU7

Name: Methylcytosine dioxygenase TET1 (EC 1.14.11.n2) (CXXC-type zinc finger protein 6) (Leukemia-associated protein with a CXXC domain) (Ten-eleven translocation 1 gene protein)

Length: 2136 Mass: 235,309

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. Up-regulated in glioblastoma cells (at protein level) (PubMed

Sequence

MSRSRHARPSRLVRKEDVNKKKKNSQLRKTTKGANKNVASVKTLSPGKLKQLIQERDVKKKTEPKPPVPVRSLLT
RAGAARMNLDRTEVLFQNPESLTCNGFTMALRSTSLSRRLSQPPLVVAKSKKVPLSKGLEKQHDCDYKILPALGV
KHSENDSVPMQDTQVLPDIETLIGVQNPSLLKGKSQETTQFWSQRVEDSKINIPTHSGPAAEILPGPLEGTRCGE
GLFSEETLNDTSGSPKMFAQDTVCAPFPQRATPKVTSQGNPSIQLEELGSRVESLKLSDSYLDPIKSEHDCYPTS
SLNKVIPDLNLRNCLALGGSTSPTSVIKFLLAGSKQATLGAKPDHQEAFEATANQQEVSDTTSFLGQAFGAIPHQ
WELPGADPVHGEALGETPDLPEIPGAIPVQGEVFGTILDQQETLGMSGSVVPDLPVFLPVPPNPIATFNAPSKWP
EPQSTVSYGLAVQGAIQILPLGSGHTPQSSSNSEKNSLPPVMAISNVENEKQVHISFLPANTQGFPLAPERGLFH
ASLGIAQLSQAGPSKSDRGSSQVSVTSTVHVVNTTVVTMPVPMVSTSSSSYTTLLPTLEKKKRKRCGVCEPCQQK
TNCGECTYCKNRKNSHQICKKRKCEELKKKPSVVVPLEVIKENKRPQREKKPKVLKADFDNKPVNGPKSESMDYS
RCGHGEEQKLELNPHTVENVTKNEDSMTGIEVEKWTQNKKSQLTDHVKGDFSANVPEAEKSKNSEVDKKRTKSPK
LFVQTVRNGIKHVHCLPAETNVSFKKFNIEEFGKTLENNSYKFLKDTANHKNAMSSVATDMSCDHLKGRSNVLVF
QQPGFNCSSIPHSSHSIINHHASIHNEGDQPKTPENIPSKEPKDGSPVQPSLLSLMKDRRLTLEQVVAIEALTQL
SEAPSENSSPSKSEKDEESEQRTASLLNSCKAILYTVRKDLQDPNLQGEPPKLNHCPSLEKQSSCNTVVFNGQTT
TLSNSHINSATNQASTKSHEYSKVTNSLSLFIPKSNSSKIDTNKSIAQGIITLDNCSNDLHQLPPRNNEVEYCNQ
LLDSSKKLDSDDLSCQDATHTQIEEDVATQLTQLASIIKINYIKPEDKKVESTPTSLVTCNVQQKYNQEKGTIQQ
KPPSSVHNNHGSSLTKQKNPTQKKTKSTPSRDRRKKKPTVVSYQENDRQKWEKLSYMYGTICDIWIASKFQNFGQ
FCPHDFPTVFGKISSSTKIWKPLAQTRSIMQPKTVFPPLTQIKLQRYPESAEEKVKVEPLDSLSLFHLKTESNGK
AFTDKAYNSQVQLTVNANQKAHPLTQPSSPPNQCANVMAGDDQIRFQQVVKEQLMHQRLPTLPGISHETPLPESA
LTLRNVNVVCSGGITVVSTKSEEEVCSSSFGTSEFSTVDSAQKNFNDYAMNFFTNPTKNLVSITKDSELPTCSCL
DRVIQKDKGPYYTHLGAGPSVAAVREIMENRYGQKGNAIRIEIVVYTGKEGKSSHGCPIAKWVLRRSSDEEKVLC
LVRQRTGHHCPTAVMVVLIMVWDGIPLPMADRLYTELTENLKSYNGHPTDRRCTLNENRTCTCQGIDPETCGASF
SFGCSWSMYFNGCKFGRSPSPRRFRIDPSSPLHEKNLEDNLQSLATRLAPIYKQYAPVAYQNQVEYENVARECRL
GSKEGRPFSGVTACLDFCAHPHRDIHNMNNGSTVVCTLTREDNRSLGVIPQDEQLHVLPLYKLSDTDEFGSKEGM
EAKIKSGAIEVLAPRRKKRTCFTQPVPRSGKKRAAMMTEVLAHKIRAVEKKPIPRIKRKNNSTTTNNSKPSSLPT
LGSNTETVQPEVKSETEPHFILKSSDNTKTYSLMPSAPHPVKEASPGFSWSPKTASATPAPLKNDATASCGFSER
SSTPHCTMPSGRLSGANAAAADGPGISQLGEVAPLPTLSAPVMEPLINSEPSTGVTEPLTPHQPNHQPSFLTSPQ
DLASSPMEEDEQHSEADEPPSDEPLSDDPLSPAEEKLPHIDEYWSDSEHIFLDANIGGVAIAPAHGSVLIECARR
ELHATTPVEHPNRNHPTRLSLVFYQHKNLNKPQHGFELNKIKFEAKEAKNKKMKASEQKDQAANEGPEQSSEVNE
LNQIPSHKALTLTHDNVVTVSPYALTHVAGPYNHWV

Structural information

Interpro:	IPR024779 IPR002857
Prosite:	PS51058
Pfam:	PF12851 PF02008
PDB:	6ASD
PDBsum:	6ASD
MINT:
STRING:	ENSP00000362748;

Other Databases

GeneCards: TET1; Malacards: TET1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001826	inner cell mass cell diff erentiation	ISS	biological_process
GO:0005506	iron ion binding	IDA	molecular_function
GO:0005634	nucleus	IC	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006493	protein O-linked glycosyl ation	ISS	biological_process
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0019827	stem cell population main tenance	ISS	biological_process
GO:0031062	positive regulation of hi stone methylation	IMP	biological_process
GO:0043566	structure-specific DNA bi nding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0070579	methylcytosine dioxygenas e activity	IDA	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0080111	DNA demethylation	IMP	biological_process
GO:0090310	negative regulation of me thylation-dependent chrom atin silencing	IMP	biological_process
GO:0001826	inner cell mass cell diff erentiation	ISS	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0005506	iron ion binding	IDA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IC	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006493	protein O-linked glycosyl ation	ISS	biological_process
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, 2-oxoglutarate as one donor, and incorporation of one atom each of oxyge n into both donors	IEA	molecular_function
GO:0019827	stem cell population main tenance	ISS	biological_process
GO:0031062	positive regulation of hi stone methylation	IMP	biological_process
GO:0043566	structure-specific DNA bi nding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051213	dioxygenase activity	IEA	molecular_function
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0070579	methylcytosine dioxygenas e activity	IDA	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0080111	DNA demethylation	IMP	biological_process
GO:0090310	negative regulation of me thylation-dependent chrom atin silencing	IMP	biological_process
GO:0001826	inner cell mass cell diff erentiation	ISS	biological_process
GO:0005506	iron ion binding	IDA	molecular_function
GO:0005634	nucleus	IC	cellular_component
GO:0006493	protein O-linked glycosyl ation	ISS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0019827	stem cell population main tenance	ISS	biological_process
GO:0031062	positive regulation of hi stone methylation	IMP	biological_process
GO:0043566	structure-specific DNA bi nding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0070579	methylcytosine dioxygenas e activity	IDA	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0070579	methylcytosine dioxygenas e activity	IMP	molecular_function
GO:0080111	DNA demethylation	IMP	biological_process
GO:0090310	negative regulation of me thylation-dependent chrom atin silencing	IMP	biological_process

Diseases

Associated diseases	References
Leukemia	GAD19420352
Alzheimer's disease	GAD16385451
Endometriosis	PubMed26917261

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26917261	Endometrio sis						Show abstract