Dnmt3b Rabbit Polyclonal Antibody (ER1802-55)

UNIPROT #

Q9UBC3

PROTEIN NAME

Dnmt3b

SYNONYMS

Cytosine 5methyltransferase 3B antibody;DNA antibody;DNA (cytosine 5) methyltransferase 3 beta antibody;DNA (cytosine 5)-methyltransferase 3B antibody;DNA (cytosine-5)-methyltransferase 3B antibody;DNA methyltransferase HsaIIIB antibody;DNA MTase HsaIIIB antibody;DNM3B_HUMAN antibody;Dnmt3b antibody;EC 2.1.1.37 antibody;ICF antibody;ICF1 antibody;M.HsaIIIB antibody;MGC124407 antibody;RP23-89H14.3 antibody

SEQUENCE SIMILARITIES

Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.

TISSUE SPECIFICITY

Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expressed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate.

POST-TRANSLATIONAL MODIFICATION

Sumoylated.; Citrullinated by PADI4.

SUBCELLULAR LOCATION

Nucleus.

FUNCTION

DNA (cytosine-5)-methyltransferase 3 beta, is an enzyme that in humans in encoded by the DNMT3B gene. Mutation in this gene are associated with immunodeficiency, centromere instability and facial anomalies syndrome. CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a result of defects in lymphocyte maturation resulting from aberrant DNA methylation caused by mutations in the DNMT3B gene. Variants of the gene can also contribute to nicotine dependency.