Dnmt1 est un gène codé par le symbole DNMT1. D'autres noms incluent: DNA (cytosine-5)-methyltransferase 1; CXXC-type zinc finger protein 9; DNA methyltransferase HsaI; DNA MTase HsaI; MCMT; AIM; CXXC9; DNMT. Dnmt1 a une masse de 183.17kDa, une longueur d'acide aminé de 1616, et est impliqué dans les maladies: Neuropathy, hereditary sensory, 1E; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.
Nous proposons 21 des anticorps contre Dnmt1, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, IP et ChIP avec des échantillons dérivés de Humain, Souris, Rat et Poisson Zèbre.
Informations sur les Gènes et les Protéines
Résumé 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 (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). Promotes tumor growth (PubMed:24623306).
Résumé 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.
Spécificité tissulaire
Ubiquitous; highly expressed in fetal tissues, heart, kidney, placenta, peripheral blood mononuclear cells, and expressed at lower levels in spleen, lung, brain, small intestine, colon, liver, and skeletal muscle. Isoform 2 is less expressed than isoform 1.
Implication dans la maladie
Neuropathy, hereditary sensory, 1E: A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia.
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant: An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression.
Similitudes de séquence
Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.
Modification post-traductionnelle
Sumoylated; sumoylation increases activity.
Localisation cellulaire
Nucleus.
