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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes FDA approved drug targets Human disease related genes Metabolic proteins Plasma proteins Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
p13.2
Chromosome location (bp)
10133342 - 10231286
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells 1. Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) 2. Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing 3. Promotes tumor growth 4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, S-adenosyl-L-methionine, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P26358 [Direct mapping] DNA (cytosine-5)-methyltransferase 1
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Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003886[DNA (cytosine-5-)-methyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006306[DNA methylation] GO:0006325[chromatin organization] GO:0008168[methyltransferase activity] GO:0008270[zinc ion binding] GO:0009008[DNA-methyltransferase activity] GO:0010216[maintenance of DNA methylation] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0016740[transferase activity] GO:0032259[methylation] GO:0032776[DNA methylation on cytosine] GO:0046872[metal ion binding] GO:0090116[C-5 methylation of cytosine] GO:0090309[positive regulation of DNA methylation-dependent heterochromatin formation] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1905460[negative regulation of vascular associated smooth muscle cell apoptotic process] GO:1905931[negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching] GO:1990841[promoter-specific chromatin binding]
P26358 [Direct mapping] DNA (cytosine-5)-methyltransferase 1
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Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000792[heterochromatin] GO:0001674[female germ cell nucleus] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003723[RNA binding] GO:0003886[DNA (cytosine-5-)-methyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005657[replication fork] GO:0005721[pericentric heterochromatin] GO:0006306[DNA methylation] GO:0006325[chromatin organization] GO:0006346[DNA methylation-dependent heterochromatin formation] GO:0006351[DNA-templated transcription] GO:0008168[methyltransferase activity] GO:0008270[zinc ion binding] GO:0008327[methyl-CpG binding] GO:0009008[DNA-methyltransferase activity] GO:0010216[maintenance of DNA methylation] GO:0010468[regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0016740[transferase activity] GO:0032259[methylation] GO:0032776[DNA methylation on cytosine] GO:0042127[regulation of cell population proliferation] GO:0043045[DNA methylation involved in embryo development] GO:0043073[germ cell nucleus] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0071230[cellular response to amino acid stimulus] GO:0090116[C-5 methylation of cytosine] GO:0090309[positive regulation of DNA methylation-dependent heterochromatin formation] GO:1903926[cellular response to bisphenol A] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1905460[negative regulation of vascular associated smooth muscle cell apoptotic process] GO:1905931[negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching] GO:1990841[promoter-specific chromatin binding]
K7EKC3 [Direct mapping] DNA (cytosine-5)-methyltransferase 1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
K7EJL0 [Direct mapping] DNA (cytosine-5)-methyltransferase 1
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Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
K7ENQ6 [Direct mapping] DNA (cytosine-5)-methyltransferase 1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
K7ER10 [Direct mapping] DNA (cytosine-5)-methyltransferase 1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
K7ERQ1 [Direct mapping] DNA (cytosine-5)-methyltransferase 1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
K7ELB1 [Direct mapping] DNA (cytosine-5)-methyltransferase 1
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A7I2YQQ0 [Direct mapping] DNA (cytosine-5)-methyltransferase
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Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A7I2V5D0 [Direct mapping] DNA (cytosine-5)-methyltransferase
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Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A7I2V490 [Direct mapping] DNA (cytosine-5)-methyltransferase
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Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A7I2YQA8 [Direct mapping] DNA (cytosine-5)-methyltransferase
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Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A7I2V5F1 [Direct mapping] DNA (cytosine-5)-methyltransferase
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Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
