• Gene id: 80312

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 tran,
• Gene location: 10q21.3 (68560336: 68700793)     Exons: 20     NC_000010.11
• 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
• 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: 235309
  • 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  IPR040175  IPR002857  
  • Prosite: PS51058
  • PDB: 6ASD
  • PDBsum: 6ASD
  • STRING: ENSP00000362748
• Other Databases: GeneCards:  TET1  Malacards:  TET1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070579	methylcytosine dioxygenase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0070989	oxidative demethylation	IBA	biological process
GO:0080111	DNA demethylation	IBA	biological process
GO:0070579	methylcytosine dioxygenase activity	IDA	molecular function
GO:0005506	iron ion binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005634	nucleus	IC	cellular component
GO:0008327	methyl-CpG binding	IDA	molecular function
GO:0090310	negative regulation of DNA methylation-dependent heterochromatin assembly	IMP	biological process
GO:0070579	methylcytosine dioxygenase activity	IMP	molecular function
GO:0001826	inner cell mass cell differentiation	ISS	biological process
GO:0070579	methylcytosine dioxygenase activity	IMP	molecular function
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0080111	DNA demethylation	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0019827	stem cell population maintenance	ISS	biological process
GO:0006493	protein O-linked glycosylation	ISS	biological process
GO:0031062	positive regulation of histone methylation	IMP	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0070579	methylcytosine dioxygenase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006211	5-methylcytosine catabolic process	IEA	biological process
GO:0080111	DNA demethylation	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
hepatocellular carcinoma	PMID:23671639
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881