Dnmt1 è un gene codificato dal simbolo DNMT1. Altri nomi includono: DNA (cytosine-5)-methyltransferase 1; CXXC-type zinc finger protein 9; DNA methyltransferase HsaI; DNA MTase HsaI; MCMT; AIM; CXXC9; DNMT. Dnmt1 ha una massa di 183.17kDa, una lunghezza di amminoacidi di 1616, ed è implicato nella malattia: Neuropathy, hereditary sensory, 1E; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.
Offriamo 21 anticorpi contro Dnmt1, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF, IP e ChIP con campioni derivati da Umano, Topo, Ratto e Zebrafish.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Specificità del tessuto
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.
Modifica post-translazionale
Sumoylated; sumoylation increases activity.
Posizione cellulare
Nucleus.
