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TET1 - tet methylcytosine dioxygenase 1 Gene

Also Known as LCX; CXXC6; bA119F7.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80312

About TET1

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:68,560,337-68,694,487 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues, 2 paralogues and is associated with 106 phenotypes. Low expression observed in reference dataset.

Summary

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]

TET1 Products (12)

mRNA	Protein	Name
NM_001406365.1	NP_001393294.1	methylcytosine dioxygenase TET1 isoform 1
NM_001406367.1	NP_001393296.1	methylcytosine dioxygenase TET1 isoform 3
NM_001406368.1	NP_001393297.1	methylcytosine dioxygenase TET1 isoform 4
NM_001406369.1	NP_001393298.1	methylcytosine dioxygenase TET1 isoform 4
NM_001406370.1	NP_001393299.1	methylcytosine dioxygenase TET1 isoform 4
NM_001406371.1	NP_001393300.1	methylcytosine dioxygenase TET1 isoform 5
NM_001406372.1	NP_001393301.1	methylcytosine dioxygenase TET1 isoform 5
NM_001406373.1	NP_001393302.1	methylcytosine dioxygenase TET1 isoform 6
NM_001406374.1	NP_001393303.1	methylcytosine dioxygenase TET1 isoform 7
NM_001406375.1	NP_001393304.1	methylcytosine dioxygenase TET1 isoform 8
NM_001406376.1	NP_001393305.1	methylcytosine dioxygenase TET1 isoform 9
NM_030625.3	NP_085128.2	methylcytosine dioxygenase TET1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables 5-methylcytosine dioxygenase activity	IDA IDA: Inferred from direct assay	19372391	GOA
enables 5-methylcytosine dioxygenase activity	IMP IMP: Inferred from mutant phenotype	21496894	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	19372391	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	21496894	GOA
enables iron ion binding	IDA IDA: Inferred from direct assay	19372391	GOA
enables methyl-CpG binding	IDA IDA: Inferred from direct assay	21496894	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27251462	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	29276034	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to reactive oxygen species	IDA IDA: Inferred from direct assay	27251462	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	25284789	GOA
involved in positive regulation of gene expression via chromosomal CpG island demethylation	IDA IDA: Inferred from direct assay	21496894	GOA
involved in positive regulation of gene expression via chromosomal CpG island demethylation	IMP IMP: Inferred from mutant phenotype	21496894	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21496894	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TET1 Protein Structure

zf-CXXC

Tet_JBP

0
400
800
1200
1600
2000
2136 a.a.

Protein Preferred Names	Protein Names
methylcytosine dioxygenase TET1	CXXC finger 6

Related Diseases

Diseases	Alias
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Hypoascorbemia	Scurvy Ascorbic Acid Deficiency Vitamin C Deficiency Vitamin C, Inability To Synthesize Deficiency Of Vitamin C Scorbutus Vitamin C
Chronic Myelomonocytic Leukemia	Leukemia, Myelomonocytic, Chronic Cmml Leukemia Myelomonocytic Chronic Cmml - [Chronic Myelomonocytic Leukaemia] Chronic Myelomonocytic Leukaemia Without Mention Of Remission Chronic Monocytic Leukaemia Chronic Monocytoid Leukaemia
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W396714	Succinic acid sodium	Inhibitor	/	Unkown

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111558	Bobcat339	Inhibitor	99.44%	Unkown
HY-111558A	Bobcat339 hydrochloride	Inhibitor	99.62%	Unkown
HY-402410	TETi76	Inhibitor	97.49%	Unkown
HY-12303	OAC1	Activator	99.85%	Unkown
HY-122258	NSC-370284	Inhibitor	99.27%	Unkown
HY-120395	UC-514321	Inhibitor	98.0%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TET1	RGD	RGD:1310993
Mus musculus	TET1	MGD	MGI:1098693
Canis familiaris	TET1	VGNC	VGNC:47260
Macaca mulatta	TET1	VGNC	VGNC:79811
Felis catus	TET1	VGNC	VGNC:66092
Bos taurus	TET1	VGNC	VGNC:55994
Others	TET1	NCBI