LOCUS NP_787046 845 aa linear PRI 04-JAN-2024
DEFINITION DNA (cytosine-5)-methyltransferase 3B isoform 6 [Homo sapiens].
ACCESSION NP_787046
VERSION NP_787046.1
DBSOURCE REFSEQ: accession NM_175850.3
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 845)
AUTHORS Lu J, Fang J, Zhu H, Liang KL, Khudaverdyan N and Song J.
TITLE Structural basis for the allosteric regulation and dynamic assembly
of DNMT3B
JOURNAL Nucleic Acids Res 51 (22), 12476-12491 (2023)
PUBMED 37941146
REMARK GeneRIF: Structural basis for the allosteric regulation and dynamic
assembly of DNMT3B.
REFERENCE 2 (residues 1 to 845)
AUTHORS Fawzy MS, El Faiomy ARM, El Desoky AMZ and Hussein S.
TITLE The relationship between DNA methyltransferase 3B (DNMT3B) and miR
124-3pa expressions in bladder cancer tissues
JOURNAL Mol Biol Rep 50 (12), 10005-10013 (2023)
PUBMED 37902910
REMARK GeneRIF: The relationship between DNA methyltransferase 3B (DNMT3B)
and miR 124-3pa expressions in bladder cancer tissues.
REFERENCE 3 (residues 1 to 845)
AUTHORS Antic Z, van Bommel A, Riege K, Lentes J, Schroder C, Alten J,
Eckert C, Fuhrmann L, Steinemann D, Lenk L, Schewe DM, Zimmermann
M, Schrappe M, Schlegelberger B, Cario G, Hoffmann S and Bergmann
AK.
TITLE Recurrent DNMT3B rearrangements are associated with unfavorable
outcome in dicentric (9;20)-positive pediatric BCP-ALL
JOURNAL Leukemia 37 (12), 2522-2525 (2023)
PUBMED 37845283
REMARK GeneRIF: Recurrent DNMT3B rearrangements are associated with
unfavorable outcome in dicentric (9;20)-positive pediatric BCP-ALL.
REFERENCE 4 (residues 1 to 845)
AUTHORS Verma A, Poondi Krishnan V, Cecere F, D'Angelo E, Lullo V,
Strazzullo M, Selig S, Angelini C, Matarazzo MR and Riccio A.
TITLE ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo
Methylation at a Subset of Imprinted Loci during iPSC Reprogramming
JOURNAL Biomolecules 13 (12), 1717 (2023)
PUBMED 38136588
REMARK GeneRIF: ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo
Methylation at a Subset of Imprinted Loci during iPSC
Reprogramming.
Publication Status: Online-Only
REFERENCE 5 (residues 1 to 845)
AUTHORS Hu S, Luo X, Qian J, Hou Y and Shi W.
TITLE High expression of DNMT3A and DNMT3B regulatory factors of TGFB in
non-neoplastic liver tissues of HCC
JOURNAL Cell Mol Biol (Noisy-le-grand) 69 (9), 52-61 (2023)
PUBMED 37807334
REMARK GeneRIF: High expression of DNMT3A and DNMT3B regulatory factors of
TGFB in non-neoplastic liver tissues of HCC.
Publication Status: Online-Only
REFERENCE 6 (residues 1 to 845)
AUTHORS Okano M, Bell DW, Haber DA and Li E.
TITLE DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo
methylation and mammalian development
JOURNAL Cell 99 (3), 247-257 (1999)
PUBMED 10555141
REFERENCE 7 (residues 1 to 845)
AUTHORS Xie S, Wang Z, Okano M, Nogami M, Li Y, He WW, Okumura K and Li E.
TITLE Cloning, expression and chromosome locations of the human DNMT3
gene family
JOURNAL Gene 236 (1), 87-95 (1999)
PUBMED 10433969
REFERENCE 8 (residues 1 to 845)
AUTHORS Robertson KD, Uzvolgyi E, Liang G, Talmadge C, Sumegi J, Gonzales
FA and Jones PA.
TITLE The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate
mRNA expression in normal tissues and overexpression in tumors
JOURNAL Nucleic Acids Res 27 (11), 2291-2298 (1999)
PUBMED 10325416
REFERENCE 9 (residues 1 to 845)
AUTHORS Okano,M., Xie,S. and Li,E.
TITLE Cloning and characterization of a family of novel mammalian DNA
(cytosine-5) methyltransferases
JOURNAL Nat Genet 19 (3), 219-220 (1998)
PUBMED 9662389
REFERENCE 10 (residues 1 to 845)
AUTHORS Preston,M.K., Tawil,R. and Wang,L.H.
TITLE Facioscapulohumeral Muscular Dystrophy
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301616
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF176228.1, AF331857.1 and
AF156487.1.
Summary: 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. Mutations in this gene cause the
immunodeficiency-centromeric instability-facial anomalies (ICF)
syndrome. Eight alternatively spliced transcript variants have been
described. The full length sequences of variants 4 and 5 have not
been determined. [provided by RefSeq, May 2011].
Transcript Variant: This variant (6) uses an alternate exon in the
5' UTR and coding region that introduces an upstream start codon,
compared to variant 1. Variant 6 also lacks an in-frame exon in the
coding region, compared to variant 1. Isoform 6 is shorter and has
a unique N-terminus, compared to isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF176228.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1968968, SAMEA2148874
[ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..845
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="20"
/map="20q11.21"
Protein 1..845
/product="DNA (cytosine-5)-methyltransferase 3B isoform 6"
/EC_number="2.1.1.37"
/note="DNA methyltransferase HsaIIIB; DNA MTase HsaIIIB;
DNA (cytosine-5)-methyltransferase 3B; DNA
(cytosine-5-)-methyltransferase 3 beta; DNA
cytosine-5--methyltransferase 3 beta"
/calculated_mol_wt=94558
Region 236..352
/region_name="PWWP_DNMT3B"
/note="PWWP domain found in DNA
(cytosine-5)-methyltransferase 3B (DNMT3B); cd20155"
/db_xref="CDD:438983"
Site order(246,248,251,263,275,278,280..282)
/site_type="other"
/note="methyl-histone binding site [polypeptide binding]"
/db_xref="CDD:438983"
Site 249..252
/site_type="other"
/note="PWWP sequence motif"
/db_xref="CDD:438983"
Region 423..542
/region_name="ADDz_Dnmt3b"
/note="ADDz domain found in DNA (cytosine-5)
methyltransferases (C5-MTases) 3b (Dnmt3b); cd11728"
/db_xref="CDD:277254"
Region 566..>748
/region_name="Dcm"
/note="Site-specific DNA-cytosine methylase [Replication,
recombination and repair]; COG0270"
/db_xref="CDD:223348"
CDS 1..845
/gene="DNMT3B"
/gene_synonym="FSHD4; ICF; ICF1; M.HsaIIIB"
/coded_by="NM_175850.3:265..2802"
/note="isoform 6 is encoded by transcript variant 6"
/db_xref="CCDS:CCDS13204.1"
/db_xref="GeneID:1789"
/db_xref="HGNC:HGNC:2979"
/db_xref="MIM:602900"
ORIGIN
1 mepspeppsl esmkgdtrhl ngeedaggre dsilvngacs dqssdsppil eairtpeirg
61 rrsssrlskr evssllsytq dltgdgdged gdgsdtpvmp klfretrtrs espavrtrnn
121 nsvssrerhr psprstrgrq grnhvdespv efpatrslrr ratasagtpw psppssylti
181 dltddtedth gtpqssstpy arlaqdsqqg gmespqvead sgdgdsseyq dgkefgigdl
241 vwgkikgfsw wpamvvswka tskrqamsgm rwvqwfgdgk fsevsadklv alglfsqhfn
301 latfnklvsy rkamyhalek arvragktfp sspgdsledq lkpmlewahg gfkptgiegl
361 kpnntqpenk trrrtaddsa tsdycpapkr lktncynngk drgdedqsre qmasdvannk
421 ssledgclsc grknpvsfhp lfegglcqtc rdrflelfym ydddgyqsyc tvccegrell
481 lcsntsccrc fcveclevlv gtgtaaeakl qepwscymcl pqrchgvlrr rkdwnvrlqa
541 fftsdtgley eapklypaip aarrrpirvl slfdgiatgy lvlkelgikv gkyvasevce
601 esiavgtvkh egnikyvndv rnitkkniee wgpfdlvigg spcndlsnvn parkglyegt
661 grlffefyhl lnysrpkegd drpffwmfen vvamkvgdkr disrflecnp vmidaikvsa
721 ahraryfwgn lpgmnrpvia skndklelqd cleynriakl kkvqtittks nsikqgknql
781 fpvvmngked vlwcteleri fgfpvhytdv snmgrgarqk llgrswsvpv irhlfaplkd
841 yface
//
