Q9UBC3

※ Protein Information

Tag	Content
UniProt Accession	DNM3B_HUMAN; Q9UBC3;
Entrez ID	1789
GenBank Protein ID	NM_001207055.1; NM_001207056.1; NM_006892.3; NM_175848.1; NM_175849.1; NM_175850.2;
GenBank Nucleotide ID	NP_001193984.1; NP_001193985.1; NP_008823.1; NP_787044.1; NP_787045.1; NP_787046.1;
Protein Name	DNA (cytosine-5)-methyltransferase 3B (Dnmt3b) (EC 2.1.1.37) (DNA methyltransferase HsaIIIB) (DNA MTase HsaIIIB) (M.HsaIIIB)
Gene Name	DNMT3B
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 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. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398). Functional Description Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 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. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398).
Sequence (Fasta)	MKGDTRHLNG EEDAGGREDS ILVNGACSDQ SSDSPPILEA IRTPEIRGRR SSSRLSKREV 60 SSLLSYTQDL TGDGDGEDGD GSDTPVMPKL FRETRTRSES PAVRTRNNNS VSSRERHRPS 120 PRSTRGRQGR NHVDESPVEF PATRSLRRRA TASAGTPWPS PPSSYLTIDL TDDTEDTHGT 180 PQSSSTPYAR LAQDSQQGGM ESPQVEADSG DGDSSEYQDG KEFGIGDLVW GKIKGFSWWP 240 AMVVSWKATS KRQAMSGMRW VQWFGDGKFS EVSADKLVAL GLFSQHFNLA TFNKLVSYRK 300 AMYHALEKAR VRAGKTFPSS PGDSLEDQLK PMLEWAHGGF KPTGIEGLKP NNTQPVVNKS 360 KVRRAGSRKL ESRKYENKTR RRTADDSATS DYCPAPKRLK TNCYNNGKDR GDEDQSREQM 420 ASDVANNKSS LEDGCLSCGR KNPVSFHPLF EGGLCQTCRD RFLELFYMYD DDGYQSYCTV 480 CCEGRELLLC SNTSCCRCFC VECLEVLVGT GTAAEAKLQE PWSCYMCLPQ RCHGVLRRRK 540 DWNVRLQAFF TSDTGLEYEA PKLYPAIPAA RRRPIRVLSL FDGIATGYLV LKELGIKVGK 600 YVASEVCEES IAVGTVKHEG NIKYVNDVRN ITKKNIEEWG PFDLVIGGSP CNDLSNVNPA 660 RKGLYEGTGR LFFEFYHLLN YSRPKEGDDR PFFWMFENVV AMKVGDKRDI SRFLECNPVM 720 IDAIKVSAAH RARYFWGNLP GMNRPVIASK NDKLELQDCL EYNRIAKLKK VQTITTKSNS 780 IKQGKNQLFP VVMNGKEDVL WCTELERIFG FPVHYTDVSN MGRGARQKLL GRSWSVPVIR 840 HLFAPLKDYF ACE 854 Fasta Sequence >Q9UBC3\|DNMT3B\|Homo sapiens (Human) MKGDTRHLNGEEDAGGREDSILVNGACSDQSSDSPPILEAIRTPEIRGRRSSSRLSKREVSSLLSYTQDLTGDGDGEDGDGSDTPVMPKLFRETRTRSESPAVRTRNNNSVSSRERHRPSPRSTRGRQGRNHVDESPVEFPATRSLRRRATASAGTPWPSPPSSYLTIDLTDDTEDTHGTPQSSSTPYARLAQDSQQGGMESPQVEADSGDGDSSEYQDGKEFGIGDLVWGKIKGFSWWPAMVVSWKATSKRQAMSGMRWVQWFGDGKFSEVSADKLVALGLFSQHFNLATFNKLVSYRKAMYHALEKARVRAGKTFPSSPGDSLEDQLKPMLEWAHGGFKPTGIEGLKPNNTQPVVNKSKVRRAGSRKLESRKYENKTRRRTADDSATSDYCPAPKRLKTNCYNNGKDRGDEDQSREQMASDVANNKSSLEDGCLSCGRKNPVSFHPLFEGGLCQTCRDRFLELFYMYDDDGYQSYCTVCCEGRELLLCSNTSCCRCFCVECLEVLVGTGTAAEAKLQEPWSCYMCLPQRCHGVLRRRKDWNVRLQAFFTSDTGLEYEAPKLYPAIPAARRRPIRVLSLFDGIATGYLVLKELGIKVGKYVASEVCEESIAVGTVKHEGNIKYVNDVRNITKKNIEEWGPFDLVIGGSPCNDLSNVNPARKGLYEGTGRLFFEFYHLLNYSRPKEGDDRPFFWMFENVVAMKVGDKRDISRFLECNPVMIDAIKVSAAHRARYFWGNLPGMNRPVIASKNDKLELQDCLEYNRIAKLKKVQTITTKSNSIKQGKNQLFPVVMNGKEDVLWCTELERIFGFPVHYTDVSNMGRGARQKLLGRSWSVPVIRHLFAPLKDYFACE

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Methylation	Hepatocellular carcinoma/Hepatocarcinoma/Hepatoma		U		24649027; 3917017
1	[Reference]: Polymorphisms of the?DNA methyltransferase 3B (DNMT3B)?gene may affect the activity of this enzyme and increase the susceptibility to several types of cancer,

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 8) (view all)	MESH:D000067877 ; Autism Spectrum Disorder MESH:D001943 ; Breast Neoplasms MESH:D002277 ; Carcinoma MESH:D019465 ; Craniofacial Abnormalities OMIM:242860 ; IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 MESH:D007153 ; Immunologic Deficiency Syndromes MESH:D011471 ; Prostatic Neoplasms MESH:D013274 ; Stomach Neoplasms
DisGeNet (Curated) (count: 64) (view all)	C0002871; Anemia C0006267; Bronchiectasis C0008677; Bronchitis, Chronic C0009451; Communicating Hydrocephalus C0011991; Diarrhea C0020534; Orbital separation excessive C0021051; Immunologic Deficiency Syndromes C0024312; Lymphopenia C0024421; Macroglossia C0025362; Mental Retardation C0025990; Micrognathism C0030469; Paranasal Sinus Diseases C0032285; Pneumonia C0033578; Prostatic Neoplasms C0036341; Schizophrenia C0037199; Sinusitis C0038356; Stomach Neoplasms C0086438; Hypogammaglobulinemia C0162119; Hemoglobin low C0231246; Failure to gain weight C0239234; Low set ears C0240295; Mandibular hypoplasia C0241442; Protrusion of tongue C0349588; Short stature C0376628; Chromosome Breakage C0376634; Craniofacial Abnormalities C0398788; Immunodeficiency syndrome, variable C0423903; Low intelligence C0426414; Small nose C0427515; Neutrophil abnormality C0525045; Mood Disorders C0557874; Global developmental delay C0678230; Congenital Epicanthus C0917816; Mental deficiency C1458155; Mammary Neoplasms C1510586; Autism Spectrum Disorders C1656427; early onset schizophrenia C1834671; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B C1836542; Depressed nasal bridge C1840077; Anteverted nostril C1843367; Poor school performance C1853241; Flat face C1854114; Short nose C1855204; Cellular immunodeficiency C1857130; Hypoplastic mandible condyle C1858085; Malar flattening C1859424; Increased chromosomal breakage C1864897; Cognitive delay C2315100; Pediatric failure to thrive C2931322; T-Lymphocytopenia C3550546; Depressed nasal root/bridge C3714745; Malabsorption C3714756; Intellectual Disability C3806482; Recurrent respiratory infections C4020875; Mental and motor retardation C4020876; Dull intelligence C4020899; Autosomal recessive predisposition C4048270; Decreased antibody level in blood C4083076; Increased head circumference C4255213; Increased size of skull C4280495; Concave bridge of nose C4280651; Hypotrophic malar bone C4280663; Increased size of cranium C4280664; Big calvaria
HGMD (count: 21) (view all)	CG994880; Chromosome instability and immunodeficiency; Gross deletions CI993597; Chromosome instability and immunodeficiency; Small insertions CM021981; Chromosome instability and immunodeficiency; Missense/nonsense CM002945; Chromosome instability and immunodeficiency; Missense/nonsense CM002944; Chromosome instability and immunodeficiency; Missense/nonsense CM021982; Chromosome instability and immunodeficiency; Missense/nonsense CM002946; Chromosome instability and immunodeficiency; Missense/nonsense CM993140; Chromosome instability and immunodeficiency; Missense/nonsense CM002947; Chromosome instability and immunodeficiency; Missense/nonsense CM992873; Chromosome instability and immunodeficiency; Missense/nonsense CM993568; Chromosome instability and immunodeficiency; Missense/nonsense CM002948; Chromosome instability and immunodeficiency; Missense/nonsense CM992874; Chromosome instability and immunodeficiency; Missense/nonsense CM002949; Chromosome instability and immunodeficiency; Missense/nonsense CM002950; Chromosome instability and immunodeficiency; Missense/nonsense CM992875; Chromosome instability and immunodeficiency; Missense/nonsense CM992876; Chromosome instability and immunodeficiency; Missense/nonsense CM021983; Chromosome instability and immunodeficiency; Missense/nonsense CR076693; Colon adenocarcinoma, reduced risk, association ?; Regulatory CS993230; Chromosome instability and immunodeficiency; Splicing CS025464; Lung cancer, increased risk, association with; Splicing
GWASdb (count: 11) (view all)	rs2424908; Eosinophil counts; eosinophilia\|asthma\|myocardial infarction rs6119954; Urinary metabolites; kidney disease rs6141813; Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide); neutropenia rs2424913; Alcohol and nictotine co-dependence; alcohol dependence\|nicotine dependence rs4911259; Type 2 diabetes; type 2 diabetes mellitus rs4911259; Inflammatory bowel disease; inflammatory bowel disease rs6119285; Attention deficit hyperactivity disorder (combined symptoms); attention deficit hyperactivity disorder rs6057648; Attention deficit hyperactivity disorder (combined symptoms); attention deficit hyperactivity disorder rs6058893; Type 2 diabetes; type 2 diabetes mellitus rs6119286; Attention deficit hyperactivity disorder (combined symptoms); attention deficit hyperactivity disorder rs2424932; Coronary heart disease; coronary artery disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 39) (view all)	100 ETRTRSESPAVRTRN dbPAF 105 SESPAVRTRNNNSVS dbPAF 110 VRTRNNNSVSSRERH dbPAF 112 TRNNNSVSSRERHRP dbPAF 113 RNNNSVSSRERHRPS dbPAF 120 SRERHRPSPRSTRGR dbPAF 136 GRNHVDESPVEFPAT dbPAF 160 SAGTPWPSPPSSYLT dbPAF 195 YARLAQDSQQGGMES dbPAF 20 DAGGREDSILVNGAC dbPAF 202 SQQGGMESPQVEADS dbPAF 209 SPQVEADSGDGDSSE dbPAF 214 ADSGDGDSSEYQDGK dbPAF 28 ILVNGACSDQSSDSP dbPAF 303 VSYRKAMYHALEKAR dbPAF 320 AGKTFPSSPGDSLED dbPAF 34 CSDQSSDSPPILEAI dbPAF 353 EGLKPNNTQPVVNKS dbPAF 367 SKVRRAGSRKLESRK dbPAF 383 ENKTRRRTADDSATS dbPAF 387 RRRTADDSATSDYCP dbPAF 401 PAPKRLKTNCYNNGK dbPAF 404 KRLKTNCYNNGKDRG dbPAF 416 DRGDEDQSREQMASD dbPAF 51 PEIRGRRSSSRLSKR dbPAF 52 EIRGRRSSSRLSKRE dbPAF 53 IRGRRSSSRLSKREV dbPAF 56 RRSSSRLSKREVSSL dbPAF 588 FDGIATGYLVLKELG dbPAF 711 VGDKRDISRFLECNP dbPAF 776 KKVQTITTKSNSIKQ dbPAF 815 IFGFPVHYTDVSNMG dbPAF 816 FGFPVHYTDVSNMGR dbPAF 819 PVHYTDVSNMGRGAR dbPAF 82 DGEDGDGSDTPVMPK dbPAF 84 EDGDGSDTPVMPKLF dbPAF 94 MPKLFRETRTRSESP dbPAF 96 KLFRETRTRSESPAV dbPAF 98 FRETRTRSESPAVRT dbPAF
Ubiquitination (count: 9) (view all)	397 SDYCPAPKRLKTNCY PLMD 428 ASDVANNKSSLEDGC PLMD 562 GLEYEAPKLYPAIPA PLMD 600 ELGIKVGKYVASEVC PLMD 617 SIAVGTVKHEGNIKY PLMD 623 VKHEGNIKYVNDVRN PLMD 634 DVRNITKKNIEEWGP PLMD 662 SNVNPARKGLYEGTG PLMD 777 KVQTITTKSNSIKQG PLMD
Sumoylation (count: 1)	617 SIAVGTVKHEGNIKY PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

A2ABF9	Q9UBC3	DIP
F6U211	Q9UBC3	MINT
O43463	Q9UBC3	HPRD
O60264	Q9UBC3	HPRD
O75530	Q9UBC3	HPRD; IntAct
P17947	Q9UBC3	HPRD
P23381	Q9UBC3	MINT
P26358	Q9UBC3	IntAct;HPRD
P45973	Q9UBC3	HPRD
P48552	Q9UBC3	MINT
P63165	Q9UBC3	HPRD; IntAct
P63279	Q9UBC3	HPRD; IntAct
P83916	Q9UBC3	HPRD
Q13547	Q9UBC3	HPRD
Q15022	Q9UBC3	IntAct
Q15714	Q9UBC3	MINT
Q15910	Q9UBC3	IntAct;HPRD
Q8CBD1	Q9UBC3	MINT
Q92769	Q9UBC3	HPRD
Q96B02	Q9UBC3	MINT
Q96EB6	Q9UBC3	IntAct
Q96T88	Q9UBC3	MINT
Q99447	Q9UBC3	MINT
Q99592	Q9UBC3	HPRD
Q9BPX3	Q9UBC3	HPRD
Q9BVJ7	Q9UBC3	MINT
Q9GZQ8	Q9UBC3	MINT
Q9NW61	Q9UBC3	MINT
Q9NX76	Q9UBC3	MINT
Q9UBC3	Q9UJW3	HPRD
Q9UBC3	Q9Y3D7	MINT
Q9UBC3	Q9Y6K1	HPRD

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction