Reviewed, UniProtKB/Swiss-Prot Q9UBC3 (DNM3B_HUMAN)

Names and origin

Protein names

Recommended name:
    DNA (cytosine-5)-methyltransferase 3B
      Short name=Dnmt3b
    EC=2.1.1.37
Alternative name(s):
    DNA methyltransferase HsaIIIB
      Short name=DNA MTase HsaIIIB
      Short name=M.HsaIIIB

Gene names

Name:

DNMT3B

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	853 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Required for genome wide de novo methylation and is essential for development. DNA methylation is coordinated with methylation of histones. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Ref.9
Catalytic activity	S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.
Subunit structure	Interacts with SUV39H1 By similarity. Interacts with SETDB1, UBL1 and UBE2I9. Interacts with DNMT1 and DNMT3A. Interacts with the PRC2/EED-EZH2 complex.
Subcellular location	Nucleus. Ref.6 Ref.7
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. Ref.6
Involvement in disease	Defects in DNMT3B are a cause of immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]. ICF is a rare autosomal recessive disorder characterized by a variable immunodeficiency, mild facial anomalies, and centromeric heterochromatin instability involving chromosomes 1, 9, and 16. ICF is biochemically characterized by hypomethylation of CpG sites in some regions of heterochromatin. Ref.2 Ref.12 Ref.13 Ref.14 Ref.15
Sequence similarities	Belongs to the C5-methyltransferase family. Contains 1 ADD-type zinc finger. Contains 1 PWWP domain.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Zinc-finger
Ligand	DNA-binding Metal-binding S-adenosyl-L-methionine Zinc
Molecular function	Methyltransferase Transferase
PTM	Ubl conjugation
Technical term	3D-structure
Gene Ontology (GO)
Biological process	DNA methylation Ref.1 Ref.12 Ref.14 Traceable author statement. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay. Source: HPA nucleus Ref.1 Inferred from direct assay. Source: HPA
Molecular function	DNA (cytosine-5-)-methyltransferase activity Ref.1 Ref.2 Traceable author statement. Source: UniProtKB DNA binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Ref.6 Ref.8 Ref.9 Inferred from physical interaction. Source: IntAct zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
EED	O75530	1	EBI-80125,EBI-923794
EZH2	Q15910	3	EBI-80125,EBI-530054
SETDB1	Q15047	1	EBI-287723,EBI-79691
SETDB1	Q15047	1	EBI-287726,EBI-79691
SUMO1	P63165	1	EBI-80125,EBI-80140
UBE2I	P63279	1	EBI-80125,EBI-80168

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UBC3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UBC3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     356-375: Missing.

Isoform 3 (identifier: Q9UBC3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     356-375: Missing.
     745-807: Missing.

Isoform 4 (identifier: Q9UBC3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     356-375: Missing.
     744-744: R → S
     745-853: Missing.

Isoform 5 (identifier: Q9UBC3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     356-375: Missing.
     768-853: LKKVQTITTK...APLKDYFACE → DLWLSCALHR...LRPSEGLLCM

Isoform 6 (identifier: Q9UBC3-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEPSPEPPSLESM
     356-375: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 853	853	DNA (cytosine-5)-methyltransferase 3B		PRO_0000088045
Regions
	Domain	225 – 283	59	PWWP
	Zinc finger	435 – 527	93	ADD-type
	Region	1 – 298	298	Interaction with DNMT1 and DNMT3A
	Region	435 – 527	93	Interaction with the PRC2/EED-EZH2 complex By similarity
Sites
	Active site	651	1	By similarity
Natural variations
	Alternative sequence	1	1	M → MEPSPEPPSLESM in isoform 6.		VSP_005636
	Alternative sequence	356 – 375	20	Missing in isoform 2, isoform 3, isoform 4, isoform 5 and isoform 6.		VSP_005637
	Alternative sequence	744	1	R → S in isoform 4.		VSP_005639
	Alternative sequence	745 – 853	109	Missing in isoform 4.		VSP_005640
	Alternative sequence	745 – 807	63	Missing in isoform 3.		VSP_005638
	Alternative sequence	768 – 853	86	LKKVQ…YFACE → DLWLSCALHRRVQHGPWCPP EAAGKVLERACHPTPLRPSE GLLCM in isoform 5.		VSP_005641
	Natural variant	54	1	R → P: dbSNP rs17123590.		VAR_033885
	Natural variant	270	1	S → P in ICF. Ref.12 Ref.13 Ref.15		VAR_022579
	Natural variant	585	1	A → V in ICF. Ref.14 Ref.15		VAR_011506
	Natural variant	603	1	A → T in ICF. Ref.12 Ref.13 Ref.14 Ref.15		VAR_011499
	Natural variant	606	1	V → A in ICF. Ref.14 Ref.15		VAR_011507
	Natural variant	663	1	G → S in ICF. Ref.2 Ref.15		VAR_011500
	Natural variant	664	1	L → P in ICF. Ref.15		VAR_022580
	Natural variant	699	1	V → G in ICF. Ref.14 Ref.15		VAR_011508
	Natural variant	726	1	V → G in ICF. Ref.2 Ref.13 Ref.14 Ref.15		VAR_011501
	Natural variant	766	1	A → P in ICF. Ref.14 Ref.15		VAR_011509
	Natural variant	806	1	E → ESTP in ICF.		VAR_011502
	Natural variant	814	1	H → R in ICF. Ref.14 Ref.15		VAR_011510
	Natural variant	817	1	D → G in ICF. Ref.2 Ref.15		VAR_011503
	Natural variant	818	1	V → M in ICF. Ref.2 Ref.14 Ref.15		VAR_011504
	Natural variant	840	1	R → Q in ICF. Ref.12 Ref.13 Ref.15		VAR_022581

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: F20A67CF78951532	FASTA	853	95,751
	10 20 30 40 50 60 MKGDTRHLNG EEDAGGREDS ILVNGACSDQ SSDSPPILEA IRTPEIRGRR SSSRLSKREV 70 80 90 100 110 120 SSLLSYTQDL TGDGDGEDGD GSDTPVMPKL FRETRTRSES PAVRTRNNNS VSSRERHRPS 130 140 150 160 170 180 PRSTRGRQGR NHVDESPVEF PATRSLRRRA TASAGTPWPS PPSSYLTIDL TDDTEDTHGT 190 200 210 220 230 240 PQSSSTPYAR LAQDSQQGGM ESPQVEADSG DGDSSEYQDG KEFGIGDLVW GKIKGFSWWP 250 260 270 280 290 300 AMVVSWKATS KRQAMSGMRW VQWFGDGKFS EVSADKLVAL GLFSQHFNLA TFNKLVSYRK 310 320 330 340 350 360 AMYHALEKAR VRAGKTFPSS PGDSLEDQLK PMLEWAHGGF KPTGIEGLKP NNTQPVVNKS 370 380 390 400 410 420 KVRRAGSRKL ESRKYENKTR RRTADDSATS DYCPAPKRLK TNCYNNGKDR GDEDQSREQM 430 440 450 460 470 480 ASDVANNKSS LEDGCLSCGR KNPVSFHPLF EGGLCQTCRD RFLELFYMYD DDGYQSYCTV 490 500 510 520 530 540 CCEGRELLLC SNTSCCRCFC VECLEVLVGT GTAAEAKLQE PWSCYMCLPQ RCHGVLRRRK 550 560 570 580 590 600 DWNVRLQAFF TSDTGLEYEA PKLYPAIPAA RRRPIRVLSL FDGIATGYLV LKELGIKVGK 610 620 630 640 650 660 YVASEVCEES IAVGTVKHEG NIKYVNDVRN ITKKNIEEWG PFDLVIGGSP CNDLSNVNPA 670 680 690 700 710 720 RKGLYEGTGR LFFEFYHLLN YSRPKEGDDR PFFWMFENVV AMKVGDKRDI SRFLECNPVM 730 740 750 760 770 780 IDAIKVSAAH RARYFWGNLP GMNRPVIASK NDKLELQDCL EYNRIAKLKK VQTITTKSNS 790 800 810 820 830 840 IKQGKNQLFP VVMNGKEDVL WCTELERIFG FPVHYTDVSN MGRGARQKLL GRSWSVPVIR 850 HLFAPLKDYF ACE
	Isoform 2. Checksum: DAD71DB275947261	FASTA	833	93,407
	10 20 30 40 50 60 MKGDTRHLNG EEDAGGREDS ILVNGACSDQ SSDSPPILEA IRTPEIRGRR SSSRLSKREV 70 80 90 100 110 120 SSLLSYTQDL TGDGDGEDGD GSDTPVMPKL FRETRTRSES PAVRTRNNNS VSSRERHRPS 130 140 150 160 170 180 PRSTRGRQGR NHVDESPVEF PATRSLRRRA TASAGTPWPS PPSSYLTIDL TDDTEDTHGT 190 200 210 220 230 240 PQSSSTPYAR LAQDSQQGGM ESPQVEADSG DGDSSEYQDG KEFGIGDLVW GKIKGFSWWP 250 260 270 280 290 300 AMVVSWKATS KRQAMSGMRW VQWFGDGKFS EVSADKLVAL GLFSQHFNLA TFNKLVSYRK 310 320 330 340 350 360 AMYHALEKAR VRAGKTFPSS PGDSLEDQLK PMLEWAHGGF KPTGIEGLKP NNTQPENKTR 370 380 390 400 410 420 RRTADDSATS DYCPAPKRLK TNCYNNGKDR GDEDQSREQM ASDVANNKSS LEDGCLSCGR 430 440 450 460 470 480 KNPVSFHPLF EGGLCQTCRD RFLELFYMYD DDGYQSYCTV CCEGRELLLC SNTSCCRCFC 490 500 510 520 530 540 VECLEVLVGT GTAAEAKLQE PWSCYMCLPQ RCHGVLRRRK DWNVRLQAFF TSDTGLEYEA 550 560 570 580 590 600 PKLYPAIPAA RRRPIRVLSL FDGIATGYLV LKELGIKVGK YVASEVCEES IAVGTVKHEG 610 620 630 640 650 660 NIKYVNDVRN ITKKNIEEWG PFDLVIGGSP CNDLSNVNPA RKGLYEGTGR LFFEFYHLLN 670 680 690 700 710 720 YSRPKEGDDR PFFWMFENVV AMKVGDKRDI SRFLECNPVM IDAIKVSAAH RARYFWGNLP 730 740 750 760 770 780 GMNRPVIASK NDKLELQDCL EYNRIAKLKK VQTITTKSNS IKQGKNQLFP VVMNGKEDVL 790 800 810 820 830 WCTELERIFG FPVHYTDVSN MGRGARQKLL GRSWSVPVIR HLFAPLKDYF ACE
	Isoform 3. Checksum: E7777E3879B1D93B	FASTA	770	86,177
	10 20 30 40 50 60 MKGDTRHLNG EEDAGGREDS ILVNGACSDQ SSDSPPILEA IRTPEIRGRR SSSRLSKREV 70 80 90 100 110 120 SSLLSYTQDL TGDGDGEDGD GSDTPVMPKL FRETRTRSES PAVRTRNNNS VSSRERHRPS 130 140 150 160 170 180 PRSTRGRQGR NHVDESPVEF PATRSLRRRA TASAGTPWPS PPSSYLTIDL TDDTEDTHGT 190 200 210 220 230 240 PQSSSTPYAR LAQDSQQGGM ESPQVEADSG DGDSSEYQDG KEFGIGDLVW GKIKGFSWWP 250 260 270 280 290 300 AMVVSWKATS KRQAMSGMRW VQWFGDGKFS EVSADKLVAL GLFSQHFNLA TFNKLVSYRK 310 320 330 340 350 360 AMYHALEKAR VRAGKTFPSS PGDSLEDQLK PMLEWAHGGF KPTGIEGLKP NNTQPENKTR 370 380 390 400 410 420 RRTADDSATS DYCPAPKRLK TNCYNNGKDR GDEDQSREQM ASDVANNKSS LEDGCLSCGR 430 440 450 460 470 480 KNPVSFHPLF EGGLCQTCRD RFLELFYMYD DDGYQSYCTV CCEGRELLLC SNTSCCRCFC 490 500 510 520 530 540 VECLEVLVGT GTAAEAKLQE PWSCYMCLPQ RCHGVLRRRK DWNVRLQAFF TSDTGLEYEA 550 560 570 580 590 600 PKLYPAIPAA RRRPIRVLSL FDGIATGYLV LKELGIKVGK YVASEVCEES IAVGTVKHEG 610 620 630 640 650 660 NIKYVNDVRN ITKKNIEEWG PFDLVIGGSP CNDLSNVNPA RKGLYEGTGR LFFEFYHLLN 670 680 690 700 710 720 YSRPKEGDDR PFFWMFENVV AMKVGDKRDI SRFLECNPVM IDAIKVSAAH RARYFWGNLP 730 740 750 760 770 GMNRIFGFPV HYTDVSNMGR GARQKLLGRS WSVPVIRHLF APLKDYFACE
	Isoform 4. Checksum: 21173ED0988996FC	FASTA	724	80,845
	10 20 30 40 50 60 MKGDTRHLNG EEDAGGREDS ILVNGACSDQ SSDSPPILEA IRTPEIRGRR SSSRLSKREV 70 80 90 100 110 120 SSLLSYTQDL TGDGDGEDGD GSDTPVMPKL FRETRTRSES PAVRTRNNNS VSSRERHRPS 130 140 150 160 170 180 PRSTRGRQGR NHVDESPVEF PATRSLRRRA TASAGTPWPS PPSSYLTIDL TDDTEDTHGT 190 200 210 220 230 240 PQSSSTPYAR LAQDSQQGGM ESPQVEADSG DGDSSEYQDG KEFGIGDLVW GKIKGFSWWP 250 260 270 280 290 300 AMVVSWKATS KRQAMSGMRW VQWFGDGKFS EVSADKLVAL GLFSQHFNLA TFNKLVSYRK 310 320 330 340 350 360 AMYHALEKAR VRAGKTFPSS PGDSLEDQLK PMLEWAHGGF KPTGIEGLKP NNTQPENKTR 370 380 390 400 410 420 RRTADDSATS DYCPAPKRLK TNCYNNGKDR GDEDQSREQM ASDVANNKSS LEDGCLSCGR 430 440 450 460 470 480 KNPVSFHPLF EGGLCQTCRD RFLELFYMYD DDGYQSYCTV CCEGRELLLC SNTSCCRCFC 490 500 510 520 530 540 VECLEVLVGT GTAAEAKLQE PWSCYMCLPQ RCHGVLRRRK DWNVRLQAFF TSDTGLEYEA 550 560 570 580 590 600 PKLYPAIPAA RRRPIRVLSL FDGIATGYLV LKELGIKVGK YVASEVCEES IAVGTVKHEG 610 620 630 640 650 660 NIKYVNDVRN ITKKNIEEWG PFDLVIGGSP CNDLSNVNPA RKGLYEGTGR LFFEFYHLLN 670 680 690 700 710 720 YSRPKEGDDR PFFWMFENVV AMKVGDKRDI SRFLECNPVM IDAIKVSAAH RARYFWGNLP GMNS
	Isoform 5. Checksum: C6721C7241B9283A	FASTA	792	88,572
	10 20 30 40 50 60 MKGDTRHLNG EEDAGGREDS ILVNGACSDQ SSDSPPILEA IRTPEIRGRR SSSRLSKREV 70 80 90 100 110 120 SSLLSYTQDL TGDGDGEDGD GSDTPVMPKL FRETRTRSES PAVRTRNNNS VSSRERHRPS 130 140 150 160 170 180 PRSTRGRQGR NHVDESPVEF PATRSLRRRA TASAGTPWPS PPSSYLTIDL TDDTEDTHGT 190 200 210 220 230 240 PQSSSTPYAR LAQDSQQGGM ESPQVEADSG DGDSSEYQDG KEFGIGDLVW GKIKGFSWWP 250 260 270 280 290 300 AMVVSWKATS KRQAMSGMRW VQWFGDGKFS EVSADKLVAL GLFSQHFNLA TFNKLVSYRK 310 320 330 340 350 360 AMYHALEKAR VRAGKTFPSS PGDSLEDQLK PMLEWAHGGF KPTGIEGLKP NNTQPENKTR 370 380 390 400 410 420 RRTADDSATS DYCPAPKRLK TNCYNNGKDR GDEDQSREQM ASDVANNKSS LEDGCLSCGR 430 440 450 460 470 480 KNPVSFHPLF EGGLCQTCRD RFLELFYMYD DDGYQSYCTV CCEGRELLLC SNTSCCRCFC 490 500 510 520 530 540 VECLEVLVGT GTAAEAKLQE PWSCYMCLPQ RCHGVLRRRK DWNVRLQAFF TSDTGLEYEA 550 560 570 580 590 600 PKLYPAIPAA RRRPIRVLSL FDGIATGYLV LKELGIKVGK YVASEVCEES IAVGTVKHEG 610 620 630 640 650 660 NIKYVNDVRN ITKKNIEEWG PFDLVIGGSP CNDLSNVNPA RKGLYEGTGR LFFEFYHLLN 670 680 690 700 710 720 YSRPKEGDDR PFFWMFENVV AMKVGDKRDI SRFLECNPVM IDAIKVSAAH RARYFWGNLP 730 740 750 760 770 780 GMNRPVIASK NDKLELQDCL EYNRIAKDLW LSCALHRRVQ HGPWCPPEAA GKVLERACHP 790 TPLRPSEGLL CM
	Isoform 6. Checksum: CFA82BB96B59EFBF	FASTA	845	94,689
	10 20 30 40 50 60 MEPSPEPPSL ESMKGDTRHL NGEEDAGGRE DSILVNGACS DQSSDSPPIL EAIRTPEIRG 70 80 90 100 110 120 RRSSSRLSKR EVSSLLSYTQ DLTGDGDGED GDGSDTPVMP KLFRETRTRS ESPAVRTRNN 130 140 150 160 170 180 NSVSSRERHR PSPRSTRGRQ GRNHVDESPV EFPATRSLRR RATASAGTPW PSPPSSYLTI 190 200 210 220 230 240 DLTDDTEDTH GTPQSSSTPY ARLAQDSQQG GMESPQVEAD SGDGDSSEYQ DGKEFGIGDL 250 260 270 280 290 300 VWGKIKGFSW WPAMVVSWKA TSKRQAMSGM RWVQWFGDGK FSEVSADKLV ALGLFSQHFN 310 320 330 340 350 360 LATFNKLVSY RKAMYHALEK ARVRAGKTFP SSPGDSLEDQ LKPMLEWAHG GFKPTGIEGL 370 380 390 400 410 420 KPNNTQPENK TRRRTADDSA TSDYCPAPKR LKTNCYNNGK DRGDEDQSRE QMASDVANNK 430 440 450 460 470 480 SSLEDGCLSC GRKNPVSFHP LFEGGLCQTC RDRFLELFYM YDDDGYQSYC TVCCEGRELL 490 500 510 520 530 540 LCSNTSCCRC FCVECLEVLV GTGTAAEAKL QEPWSCYMCL PQRCHGVLRR RKDWNVRLQA 550 560 570 580 590 600 FFTSDTGLEY EAPKLYPAIP AARRRPIRVL SLFDGIATGY LVLKELGIKV GKYVASEVCE 610 620 630 640 650 660 ESIAVGTVKH EGNIKYVNDV RNITKKNIEE WGPFDLVIGG SPCNDLSNVN PARKGLYEGT 670 680 690 700 710 720 GRLFFEFYHL LNYSRPKEGD DRPFFWMFEN VVAMKVGDKR DISRFLECNP VMIDAIKVSA 730 740 750 760 770 780 AHRARYFWGN LPGMNRPVIA SKNDKLELQD CLEYNRIAKL KKVQTITTKS NSIKQGKNQL 790 800 810 820 830 840 FPVVMNGKED VLWCTELERI FGFPVHYTDV SNMGRGARQK LLGRSWSVPV IRHLFAPLKD YFACE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, expression and chromosome locations of the human DNMT3 gene family." Xie S., Wang Z., Okano M., Nogami M., Li Y., He W.-W., Okumura K., Li E. Gene 236:87-95(1999) [PubMed: 10433969] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Fetal testis and Small intestine.
[2]	"Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene." Xu G.-L., Bestor T.H., Bourc'his D., Hsieh C.-L., Tommerup N., Bugge M., Hulten M., Qu X., Russo J.J., Viegas-Pequignot E. Nature 402:187-191(1999) [PubMed: 10647011] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 6), VARIANTS ICF SER-663; GLY-726; GLY-817 AND MET-818. Tissue: Testis.
[3]	"Cloning, expression and characterization of human DNMT3 genes." Ni J., Pradhan S., Roberts R.J. Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1).
[4]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
[5]	"The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors." Robertson K.D., Uzvolgyi E., Liang G., Talmadge C., Sumegi J., Gonzales F.A., Jones P.A. Nucleic Acids Res. 27:2291-2298(1999) [PubMed: 10325416] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 636-853 (ISOFORMS 1; 4 AND 5). Tissue: Testis.
[6]	"Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1." Kang E.S., Park C.W., Chung J.H. Biochem. Biophys. Res. Commun. 289:862-868(2001) [PubMed: 11735126] [Abstract] Cited for: INTERACTION WITH UBL1 AND UBE2I9, SUMOYLATION, SUBCELLULAR LOCATION.
[7]	"Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases." Kim G.-D., Ni J., Kelesoglu N., Roberts R.J., Pradhan S. EMBO J. 21:4183-4195(2002) [PubMed: 12145218] [Abstract] Cited for: INTERACTION WITH DNMT1 AND DNMT3A, SUBCELLULAR LOCATION.
[8]	"The histone methyltransferase SETDB1 and the DNA methyltransferase DNMT3A interact directly and localize to promoters silenced in cancer cells." Li H., Rauch T., Chen Z.-X., Szabo P.E., Riggs A.D., Pfeifer G.P. J. Biol. Chem. 281:19489-19500(2006) [PubMed: 16682412] [Abstract] Cited for: INTERACTION WITH SETDB1.
[9]	"The Polycomb group protein EZH2 directly controls DNA methylation." Vire E., Brenner C., Deplus R., Blanchon L., Fraga M., Didelot C., Morey L., Van Eynde A., Bernard D., Vanderwinden J.-M., Bollen M., Esteller M., Di Croce L., de Launoit Y., Fuks F. Nature 439:871-874(2006) [PubMed: 16357870] [Abstract] Cited for: FUNCTION, INTERACTION WITH THE PRC2/EED-EZH2 COMPLEX.
[10]	Erratum Vire E., Brenner C., Deplus R., Blanchon L., Fraga M., Didelot C., Morey L., Van Eynde A., Bernard D., Vanderwinden J.-M., Bollen M., Esteller M., Di Croce L., de Launoit Y., Fuks F. Nature 446:824-824(2006)
[11]	"Polycomb-mediated methylation on Lys27 of histone H3 pre-marks genes for de novo methylation in cancer." Schlesinger Y., Straussman R., Keshet I., Farkash S., Hecht M., Zimmerman J., Eden E., Yakhini Z., Ben-Shushan E., Reubinoff B.E., Bergman Y., Simon I., Cedar H. Nat. Genet. 39:232-236(2007) [PubMed: 17200670] [Abstract] Cited for: DE NOVO DNA METHYLATION OF TARGET GENES.
[12]	"DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development." Okano M., Bell D.W., Haber D.A., Li E. Cell 99:247-257(1999) [PubMed: 10555141] [Abstract] Cited for: VARIANTS ICF THR-603 AND SER-THR-PRO-806 INS.
[13]	"The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome." Hansen R.S., Wijmenga C., Luo P., Stanek A.M., Canfield T.K., Weemaes C.M.R., Gartler S.M. Proc. Natl. Acad. Sci. U.S.A. 96:14412-14417(1999) [PubMed: 10588719] [Abstract] Cited for: VARIANTS ICF THR-603; GLY-726 AND SER-THR-PRO-806 INS.
[14]	"Genetic variation in ICF syndrome: evidence for genetic heterogeneity." Wijmenga C., Hansen R.S., Gimelli G., Bjoerck E.J., Davies E.G., Valentine D., Belohradsky B.H., van Dongen J.J., Smeets D.F.C.M., van den Heuvel L.P.W.J., Luyten J.A.F.M., Strengman E., Weemaes C.M.R., Pearson P.L. Hum. Mutat. 16:509-517(2000) [PubMed: 11102980] [Abstract] Cited for: VARIANTS ICF VAL-585; THR-603; ALA-606; GLY-699; GLY-726; PRO-766; ARG-814 AND MET-818.
[15]	"DNMT3B mutations and DNA methylation defect define two types of ICF syndrome." Jiang Y.L., Rigolet M., Bourc'his D., Nigon F., Bokesoy I., Fryns J.-P., Hulten M., Jonveaux P., Maraschio P., Megarbane A., Moncla A., Viegas-Pequignot E. Hum. Mutat. 25:56-63(2005) [PubMed: 15580563] [Abstract] Cited for: VARIANTS ICF PRO-270; VAL-585; THR-603; ALA-606; SER-663; PRO-664; GLY-699; GLY-726; PRO-766; ARG-814; GLY-817; MET-818 AND GLN-840.
+	Additional computationally mapped references.

Web resources

DNMT3Bbase

DNMT3B mutation db

Cross-references

Sequence databases

EMBLGenBankDDBJ

AF156487 mRNA. Translation: AAD53062.1.
AF156488 mRNA. Translation: AAD53063.1.
AF176228 mRNA. Translation: AAF04015.1.
AF331857 mRNA. Translation: AAL57040.1.
AL035071 Genomic DNA. Translation: CAB53069.1.
AL035071 Genomic DNA. Translation: CAB53070.1.
AL035071 Genomic DNA. Translation: CAB53071.1.
AF129267 mRNA. Translation: AAD31432.1.
AF129268 mRNA. Translation: AAD31433.1.
AF129269 mRNA. Translation: AAD31434.1.

IPI

IPI00012593.
IPI00180702.
IPI00218357.
IPI00218358.
IPI00218359.
IPI00218360.

RefSeq

NP_008823.1.
NP_787044.1.
NP_787045.1.
NP_787046.1.

UniGene

Hs.713611

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3FLG	X-ray	1.80	A	206-355	[»]

SMR

Q9UBC3. Positions 216-350.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9UBC3. 6 interactions.

Protein family/group databases

REBASE

4120. M.HsaDnmt3B.

PTM databases

PhosphoSite

Q9UBC3.

Proteomic databases

PRIDE

Q9UBC3.

Genome annotation databases

Ensembl

ENSG00000088305. Homo sapiens. [Contig view]

GeneID

1789.

KEGG

hsa:1789.

Organism-specific databases

GeneCards

GC20P030813.

H-InvDB

HIX0015730.

HGNC

HGNC:2979. DNMT3B.

HPA

HPA001595.

MIM

242860. phenotype.
602900. gene.

Orphanet

2268. ICF syndrome.

PharmGKB

PA27446.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

Q9UBC3.

OMA

Q9UBC3. YEAPKLY.

Enzyme and pathway databases

BRENDA

2.1.1.37. 247.

Gene expression databases

ArrayExpress

Q9UBC3.

Bgee

Q9UBC3.

CleanEx

HS_DNMT3B.

GermOnline

ENSG00000088305. Homo sapiens.

Family and domain databases

InterPro

IPR001525. C5_DNA_meth.
IPR018117. C5_DNA_meth_AS.
IPR000313. PWWP.
[Graphical view]

Pfam

PF00145. DNA_methylase. 1 hit.
PF00855. PWWP. 1 hit.
[Graphical view]

SMART

SM00293. PWWP. 1 hit.
[Graphical view]

PROSITE

PS00094. C5_MTASE_1. 1 hit.
PS00095. C5_MTASE_2. False negative.
PS50812. PWWP. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

7289.

SOURCE

Search...

Entry information

Entry name

DNM3B_HUMAN

Accession

Primary (citable) accession number: Q9UBC3
Secondary accession number(s): Q9UBD4 , Q9UJQ5, Q9UKA6, Q9UNE5, Q9Y5R9, Q9Y5S0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	May 1, 2000
Last modified:	June 16, 2009
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)