UniProtKB - P26358 (DNMT1_HUMAN)
DNA (cytosine-5)-methyltransferase 1
DNMT1
Functioni
Catalytic activityi
- a 2'-deoxycytidine in DNA + S-adenosyl-L-methionine = a 5-methyl-2'-deoxycytidine in DNA + H+ + S-adenosyl-L-homocysteinePROSITE-ProRule annotationEC:2.1.1.37PROSITE-ProRule annotation
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 353 | Zinc | 1 | |
Metal bindingi | 356 | Zinc | 1 | |
Metal bindingi | 414 | Zinc | 1 | |
Metal bindingi | 418 | Zinc | 1 | |
Sitei | 509 | Important for activityBy similarity | 1 | |
Binding sitei | 1146 | S-adenosyl-L-methionine; via carbonyl oxygenBy similarity | 1 | |
Binding sitei | 1191 | S-adenosyl-L-methionineCombined sources1 Publication | 1 | |
Active sitei | 1226 | 1 | ||
Binding sitei | 1578 | S-adenosyl-L-methionine; via carbonyl oxygenCombined sources1 Publication | 1 | |
Binding sitei | 1580 | S-adenosyl-L-methionine; via amide nitrogenBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 646 – 692 | CXXC-typePROSITE-ProRule annotationAdd BLAST | 47 |
GO - Molecular functioni
- DNA (cytosine-5-)-methyltransferase activity Source: UniProtKB
- DNA binding Source: UniProtKB
- DNA-methyltransferase activity Source: UniProtKB
- methyl-CpG binding Source: Ensembl
- promoter-specific chromatin binding Source: UniProtKB
- RNA binding Source: Ensembl
- zinc ion binding Source: Ensembl
GO - Biological processi
- cellular response to amino acid stimulus Source: Ensembl
- chromatin organization Source: UniProtKB-KW
- DNA methylation Source: ProtInc
- DNA methylation involved in embryo development Source: Ensembl
- DNA methylation on cytosine within a CG sequence Source: GO_Central
- gene silencing Source: Ensembl
- maintenance of DNA methylation Source: UniProtKB
- negative regulation of gene expression Source: BHF-UCL
- negative regulation of gene expression, epigenetic Source: Reactome
- negative regulation of histone H3-K9 methylation Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: ProtInc
- negative regulation of vascular associated smooth muscle cell apoptotic process Source: BHF-UCL
- negative regulation of vascular smooth muscle cell differentiation involved in phenotypic switching Source: BHF-UCL
- positive regulation of gene expression Source: UniProtKB
- positive regulation of histone H3-K4 methylation Source: UniProtKB
- positive regulation of methylation-dependent chromatin silencing Source: UniProtKB
- positive regulation of vascular smooth muscle cell proliferation Source: BHF-UCL
- Ras protein signal transduction Source: UniProtKB
Keywordsi
Molecular function | Activator, Chromatin regulator, DNA-binding, Methyltransferase, Repressor, Transferase |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, S-adenosyl-L-methionine, Zinc |
Enzyme and pathway databases
BRENDAi | 2.1.1.37 2681 |
Reactomei | R-HSA-212300 PRC2 methylates histones and DNA R-HSA-427413 NoRC negatively regulates rRNA expression R-HSA-4655427 SUMOylation of DNA methylation proteins R-HSA-5334118 DNA methylation |
SIGNORi | P26358 |
Protein family/group databases
REBASEi | 1161 M.HsaDnmt1A 4240 M.HsaDnmt1B |
Names & Taxonomyi
Protein namesi | Recommended name: DNA (cytosine-5)-methyltransferase 1 (EC:2.1.1.37)Short name: Dnmt1 Alternative name(s): CXXC-type zinc finger protein 9 DNA methyltransferase HsaI Short name: DNA MTase HsaI Short name: M.HsaI MCMT |
Gene namesi | Name:DNMT1 Synonyms:AIM, CXXC9, DNMT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2976 DNMT1 |
MIMi | 126375 gene |
neXtProti | NX_P26358 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
Other locations
- pericentric heterochromatin Source: Ensembl
- replication fork Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Neuropathy, hereditary sensory, 1E (HSN1E)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065965 | 490 – 491 | DP → EY in HSN1E; unstable protein with decreased enzymatic activity and impaired heterochromatin binding ability after the S phase. Corresponds to variant dbSNP:rs199473691Ensembl. | 2 | |
Natural variantiVAR_065966 | 495 | Y → C in HSN1E; unstable protein with decreased enzymatic activity and impaired heterochromatin binding ability after the S phase. 1 PublicationCorresponds to variant dbSNP:rs199473690Ensembl. | 1 |
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070055 | 554 | A → V in ADCADN. 1 PublicationCorresponds to variant dbSNP:rs397509392Ensembl. | 1 | |
Natural variantiVAR_070056 | 589 | G → A in ADCADN. 1 PublicationCorresponds to variant dbSNP:rs397509393Ensembl. | 1 | |
Natural variantiVAR_070057 | 590 | V → F in ADCADN. 1 PublicationCorresponds to variant dbSNP:rs397509391Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 163 | R → A: Abolishes interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 164 | Q → A: Abolishes interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 166 | T → A: Abolishes interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 167 | I → A: Abolishes interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 169 | S → A: No loss of interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 170 | H → V: Abolishes interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 171 | F → V: Abolishes interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 172 | A → S: No loss of interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 173 | K → A: No loss of interaction with PCNA. 1 Publication | 1 | |
Mutagenesisi | 653 | C → G: Reduces activity about 10-fold; when associated with G-656; G-659; G-664; G-667 and G-670. 1 Publication | 1 | |
Mutagenesisi | 656 | C → G: Reduces activity about 10-fold; when associated with G-653; G-659; G-664; G-667 and G-670. 1 Publication | 1 | |
Mutagenesisi | 659 | C → G: Reduces activity about 10-fold; when associated with G-653; G-656; G-664; G-667 and G-670. 1 Publication | 1 | |
Mutagenesisi | 664 | C → F: Reduces activity about 10-fold; when associated with G-653; G-656; G-659; G-667 and G-670. 1 Publication | 1 | |
Mutagenesisi | 667 | C → G: Reduces activity about 10-fold; when associated with G-653; G-656; G-659; G-664 and G-670. 1 Publication | 1 | |
Mutagenesisi | 670 | C → G: Reduces activity about 10-fold; when associated with G-653; G-656; G-659; G-664 and G-667. 1 Publication | 1 | |
Mutagenesisi | 1226 | C → A: Loss of activity. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease mutation, NeuropathyOrganism-specific databases
DisGeNETi | 1786 |
GeneReviewsi | DNMT1 |
MalaCardsi | DNMT1 |
MIMi | 604121 phenotype 614116 phenotype |
OpenTargetsi | ENSG00000130816 |
Orphaneti | 314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome 456318 Hereditary sensory neuropathy-deafness-dementia syndrome |
PharmGKBi | PA27443 |
Miscellaneous databases
Pharosi | P26358 |
Chemistry databases
ChEMBLi | CHEMBL1993 |
DrugBanki | DB00928 Azacitidine DB01262 Decitabine DB12116 Epigallocatechin gallate DB01099 Flucytosine DB05668 Palifosfamide DB01035 Procainamide |
DrugCentrali | P26358 |
GuidetoPHARMACOLOGYi | 2605 |
Polymorphism and mutation databases
BioMutai | DNMT1 |
DMDMi | 12231019 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000088034 | 1 – 1616 | DNA (cytosine-5)-methyltransferase 1Add BLAST | 1616 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 70 | N6,N6-dimethyllysine1 Publication | 1 | |
Modified residuei | 127 | PhosphoserineCombined sources | 1 | |
Modified residuei | 133 | PhosphoserineCombined sources | 1 | |
Modified residuei | 137 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 141 | PhosphoserineBy similarity | 1 | |
Modified residuei | 142 | N6-methyllysine; by SETD71 Publication | 1 | |
Modified residuei | 143 | Phosphoserine; by PKB/AKT1Combined sources1 Publication | 1 | |
Modified residuei | 152 | PhosphoserineCombined sources | 1 | |
Modified residuei | 154 | PhosphoserineCombined sources1 Publication | 1 | |
Modified residuei | 160 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 166 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 173 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 188 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 259 | N6-acetyllysine; alternate1 Publication | 1 | |
Cross-linki | 259 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 312 | PhosphoserineCombined sources | 1 | |
Modified residuei | 366 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 394 | PhosphoserineCombined sources | 1 | |
Modified residuei | 398 | PhosphoserineCombined sources | 1 | |
Modified residuei | 509 | PhosphoserineBy similarity | 1 | |
Modified residuei | 549 | PhosphoserineCombined sources | 1 | |
Modified residuei | 714 | PhosphoserineCombined sources | 1 | |
Modified residuei | 732 | PhosphoserineCombined sources | 1 | |
Modified residuei | 749 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 878 | PhosphoserineCombined sources | 1 | |
Modified residuei | 891 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 957 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 961 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 975 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 1054 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 1111 | N6-acetyllysineCombined sources1 Publication | 1 | |
Modified residuei | 1113 | N6-acetyllysineCombined sources1 Publication | 1 | |
Modified residuei | 1115 | N6-acetyllysineCombined sources1 Publication | 1 | |
Modified residuei | 1117 | N6-acetyllysine; by EHMT21 Publication | 1 | |
Modified residuei | 1119 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 1121 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 1349 | N6-acetyllysine1 Publication | 1 | |
Modified residuei | 1415 | N6-acetyllysine1 Publication | 1 | |
Cross-linki | 1609 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Keywords - PTMi
Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P26358 |
jPOSTi | P26358 |
MassIVEi | P26358 |
MaxQBi | P26358 |
PaxDbi | P26358 |
PeptideAtlasi | P26358 |
PRIDEi | P26358 |
ProteomicsDBi | 54320 [P26358-1] 54321 [P26358-2] 54322 [P26358-3] |
PTM databases
iPTMneti | P26358 |
PhosphoSitePlusi | P26358 |
SwissPalmi | P26358 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000130816 Expressed in 215 organ(s), highest expression level in oocyte |
ExpressionAtlasi | P26358 baseline and differential |
Genevisiblei | P26358 HS |
Organism-specific databases
HPAi | CAB005876 HPA002694 |
Interactioni
Subunit structurei
Homodimer (PubMed:19173286).
Forms a stable complex with E2F1, BB1 and HDAC1 (PubMed:10888886).
Forms a complex with DMAP1 and HDAC2, with direct interaction (PubMed:10888872).
Interacts with the PRC2/EED-EZH2 complex (PubMed:16357870). Probably part of a corepressor complex containing ZNF304, TRIM28, SETDB1 and DNMT1 (PubMed:24623306).
Interacts with UHRF1; promoting its recruitment to hemimethylated DNA (PubMed:21745816).
Interacts with USP7, promoting its deubiquitination (PubMed:21745816).
Interacts with PCNA (PubMed:9302295).
Interacts with MBD2 and MBD3 (PubMed:10947852).
Interacts with DNMT3A and DNMT3B (PubMed:12145218).
Interacts with UBC9 (PubMed:19450230).
Interacts with CSNK1D (By similarity).
Interacts with HDAC1 (By similarity).
Interacts with BAZ2A/TIP5 (By similarity).
By similarity10 PublicationsBinary interactionsi
Protein-protein interaction databases
BioGridi | 108123, 122 interactors |
CORUMi | P26358 |
DIPi | DIP-39693N |
ELMi | P26358 |
IntActi | P26358, 40 interactors |
MINTi | P26358 |
STRINGi | 9606.ENSP00000352516 |
Chemistry databases
BindingDBi | P26358 |
Structurei
Secondary structure
3D structure databases
SMRi | P26358 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P26358 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 18 – 103 | DMAP-interactionAdd BLAST | 86 | |
Domaini | 755 – 880 | BAH 1PROSITE-ProRule annotationAdd BLAST | 126 | |
Domaini | 972 – 1100 | BAH 2PROSITE-ProRule annotationAdd BLAST | 129 | |
Repeati | 1109 – 1110 | 1 | 2 | |
Repeati | 1111 – 1112 | 2 | 2 | |
Repeati | 1113 – 1114 | 3 | 2 | |
Repeati | 1115 – 1116 | 4 | 2 | |
Repeati | 1117 – 1118 | 5 | 2 | |
Repeati | 1119 – 1120 | 6; approximate | 2 | |
Domaini | 1139 – 1599 | SAM-dependent MTase C5-typePROSITE-ProRule annotationAdd BLAST | 461 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 336 | Interaction with the PRC2/EED-EZH2 complexBy similarityAdd BLAST | 336 | |
Regioni | 1 – 148 | Interaction with DNMT3A1 PublicationAdd BLAST | 148 | |
Regioni | 1 – 120 | Interaction with DMAP11 PublicationAdd BLAST | 120 | |
Regioni | 149 – 217 | Interaction with DNMT3B1 PublicationAdd BLAST | 69 | |
Regioni | 163 – 174 | Interaction with PCNA1 PublicationAdd BLAST | 12 | |
Regioni | 308 – 606 | Interaction with the PRC2/EED-EZH2 complexBy similarityAdd BLAST | 299 | |
Regioni | 310 – 502 | HomodimerizationAdd BLAST | 193 | |
Regioni | 331 – 550 | DNA replication foci-targeting sequenceBy similarityAdd BLAST | 220 | |
Regioni | 651 – 697 | Required for activityAdd BLAST | 47 | |
Regioni | 693 – 754 | Autoinhibitory linkerAdd BLAST | 62 | |
Regioni | 1109 – 1120 | 6 X 2 AA tandem repeats of K-GAdd BLAST | 12 | |
Regioni | 1121 – 1616 | Interaction with the PRC2/EED-EZH2 complexBy similarityAdd BLAST | 496 | |
Regioni | 1139 – 1616 | CatalyticAdd BLAST | 478 | |
Regioni | 1150 – 1151 | S-adenosyl-L-methionine bindingBy similarity | 2 | |
Regioni | 1168 – 1169 | S-adenosyl-L-methionine bindingCombined sources1 Publication | 2 | |
Regioni | 1190 – 1191 | S-adenosyl-L-methionine bindingBy similarity | 2 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 177 – 205 | Nuclear localization signalSequence analysisAdd BLAST | 29 |
Domaini
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 646 – 692 | CXXC-typePROSITE-ProRule annotationAdd BLAST | 47 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | ENOG410IF68 Eukaryota COG0270 LUCA |
GeneTreei | ENSGT00390000005100 |
HOGENOMi | HOG000082497 |
InParanoidi | P26358 |
KOi | K00558 |
OMAi | HLCAFDT |
OrthoDBi | 898916at2759 |
PhylomeDBi | P26358 |
TreeFami | TF328926 |
Family and domain databases
InterProi | View protein in InterPro IPR001025 BAH_dom IPR018117 C5_DNA_meth_AS IPR001525 C5_MeTfrase IPR031303 C5_meth_CS IPR022702 Cytosine_MeTrfase1_RFD IPR010506 DMAP1-bd IPR017198 DNMT1-like IPR029063 SAM-dependent_MTases IPR002857 Znf_CXXC |
Pfami | View protein in Pfam PF01426 BAH, 2 hits PF06464 DMAP_binding, 1 hit PF00145 DNA_methylase, 1 hit PF12047 DNMT1-RFD, 1 hit PF02008 zf-CXXC, 1 hit |
PIRSFi | PIRSF037404 DNMT1, 1 hit |
PRINTSi | PR00105 C5METTRFRASE |
SMARTi | View protein in SMART SM00439 BAH, 2 hits SM01137 DMAP_binding, 1 hit |
SUPFAMi | SSF53335 SSF53335, 1 hit |
PROSITEi | View protein in PROSITE PS51038 BAH, 2 hits PS00094 C5_MTASE_1, 1 hit PS00095 C5_MTASE_2, 1 hit PS51679 SAM_MT_C5, 1 hit PS51058 ZF_CXXC, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPARTAPARV PTLAVPAISL PDDVRRRLKD LERDSLTEKE CVKEKLNLLH
60 70 80 90 100
EFLQTEIKNQ LCDLETKLRK EELSEEGYLA KVKSLLNKDL SLENGAHAYN
110 120 130 140 150
REVNGRLENG NQARSEARRV GMADANSPPK PLSKPRTPRR SKSDGEAKPE
160 170 180 190 200
PSPSPRITRK STRQTTITSH FAKGPAKRKP QEESERAKSD ESIKEEDKDQ
210 220 230 240 250
DEKRRRVTSR ERVARPLPAE EPERAKSGTR TEKEEERDEK EEKRLRSQTK
260 270 280 290 300
EPTPKQKLKE EPDREARAGV QADEDEDGDE KDEKKHRSQP KDLAAKRRPE
310 320 330 340 350
EKEPEKVNPQ ISDEKDEDEK EEKRRKTTPK EPTEKKMARA KTVMNSKTHP
360 370 380 390 400
PKCIQCGQYL DDPDLKYGQH PPDAVDEPQM LTNEKLSIFD ANESGFESYE
410 420 430 440 450
ALPQHKLTCF SVYCKHGHLC PIDTGLIEKN IELFFSGSAK PIYDDDPSLE
460 470 480 490 500
GGVNGKNLGP INEWWITGFD GGEKALIGFS TSFAEYILMD PSPEYAPIFG
510 520 530 540 550
LMQEKIYISK IVVEFLQSNS DSTYEDLINK IETTVPPSGL NLNRFTEDSL
560 570 580 590 600
LRHAQFVVEQ VESYDEAGDS DEQPIFLTPC MRDLIKLAGV TLGQRRAQAR
610 620 630 640 650
RQTIRHSTRE KDRGPTKATT TKLVYQIFDT FFAEQIEKDD REDKENAFKR
660 670 680 690 700
RRCGVCEVCQ QPECGKCKAC KDMVKFGGSG RSKQACQERR CPNMAMKEAD
710 720 730 740 750
DDEEVDDNIP EMPSPKKMHQ GKKKKQNKNR ISWVGEAVKT DGKKSYYKKV
760 770 780 790 800
CIDAETLEVG DCVSVIPDDS SKPLYLARVT ALWEDSSNGQ MFHAHWFCAG
810 820 830 840 850
TDTVLGATSD PLELFLVDEC EDMQLSYIHS KVKVIYKAPS ENWAMEGGMD
860 870 880 890 900
PESLLEGDDG KTYFYQLWYD QDYARFESPP KTQPTEDNKF KFCVSCARLA
910 920 930 940 950
EMRQKEIPRV LEQLEDLDSR VLYYSATKNG ILYRVGDGVY LPPEAFTFNI
960 970 980 990 1000
KLSSPVKRPR KEPVDEDLYP EHYRKYSDYI KGSNLDAPEP YRIGRIKEIF
1010 1020 1030 1040 1050
CPKKSNGRPN ETDIKIRVNK FYRPENTHKS TPASYHADIN LLYWSDEEAV
1060 1070 1080 1090 1100
VDFKAVQGRC TVEYGEDLPE CVQVYSMGGP NRFYFLEAYN AKSKSFEDPP
1110 1120 1130 1140 1150
NHARSPGNKG KGKGKGKGKP KSQACEPSEP EIEIKLPKLR TLDVFSGCGG
1160 1170 1180 1190 1200
LSEGFHQAGI SDTLWAIEMW DPAAQAFRLN NPGSTVFTED CNILLKLVMA
1210 1220 1230 1240 1250
GETTNSRGQR LPQKGDVEML CGGPPCQGFS GMNRFNSRTY SKFKNSLVVS
1260 1270 1280 1290 1300
FLSYCDYYRP RFFLLENVRN FVSFKRSMVL KLTLRCLVRM GYQCTFGVLQ
1310 1320 1330 1340 1350
AGQYGVAQTR RRAIILAAAP GEKLPLFPEP LHVFAPRACQ LSVVVDDKKF
1360 1370 1380 1390 1400
VSNITRLSSG PFRTITVRDT MSDLPEVRNG ASALEISYNG EPQSWFQRQL
1410 1420 1430 1440 1450
RGAQYQPILR DHICKDMSAL VAARMRHIPL APGSDWRDLP NIEVRLSDGT
1460 1470 1480 1490 1500
MARKLRYTHH DRKNGRSSSG ALRGVCSCVE AGKACDPAAR QFNTLIPWCL
1510 1520 1530 1540 1550
PHTGNRHNHW AGLYGRLEWD GFFSTTVTNP EPMGKQGRVL HPEQHRVVSV
1560 1570 1580 1590 1600
RECARSQGFP DTYRLFGNIL DKHRQVGNAV PPPLAKAIGL EIKLCMLAKA
1610
RESASAKIKE EEAAKD
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7ENW7 | K7ENW7_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 389 | Annotation score: | ||
K7ERQ1 | K7ERQ1_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 71 | Annotation score: | ||
K7EJL0 | K7EJL0_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 255 | Annotation score: | ||
K7ELB1 | K7ELB1_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 94 | Annotation score: | ||
K7ENQ6 | K7ENQ6_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 119 | Annotation score: | ||
K7ER10 | K7ER10_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 77 | Annotation score: | ||
K7EKC3 | K7EKC3_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 25 | Annotation score: | ||
K7EMU8 | K7EMU8_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 89 | Annotation score: | ||
K7EIZ6 | K7EIZ6_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 40 | Annotation score: | ||
K7EP77 | K7EP77_HUMAN | DNA (cytosine-5)-methyltransferase ... | DNMT1 | 55 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_024605 | 97 | H → R. Corresponds to variant dbSNP:rs16999593EnsemblClinVar. | 1 | |
Natural variantiVAR_051960 | 311 | I → V. Corresponds to variant dbSNP:rs2228612Ensembl. | 1 | |
Natural variantiVAR_065965 | 490 – 491 | DP → EY in HSN1E; unstable protein with decreased enzymatic activity and impaired heterochromatin binding ability after the S phase. Corresponds to variant dbSNP:rs199473691Ensembl. | 2 | |
Natural variantiVAR_065966 | 495 | Y → C in HSN1E; unstable protein with decreased enzymatic activity and impaired heterochromatin binding ability after the S phase. 1 PublicationCorresponds to variant dbSNP:rs199473690Ensembl. | 1 | |
Natural variantiVAR_070055 | 554 | A → V in ADCADN. 1 PublicationCorresponds to variant dbSNP:rs397509392Ensembl. | 1 | |
Natural variantiVAR_070056 | 589 | G → A in ADCADN. 1 PublicationCorresponds to variant dbSNP:rs397509393Ensembl. | 1 | |
Natural variantiVAR_070057 | 590 | V → F in ADCADN. 1 PublicationCorresponds to variant dbSNP:rs397509391Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005617 | 1 – 336 | Missing in isoform 3. 1 PublicationAdd BLAST | 336 | |
Alternative sequenceiVSP_005618 | 149 | P → RSRDPPASASQVTGIRA in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X63692 mRNA Translation: CAA45219.1 AF180682 mRNA Translation: AAF23609.1 AC010077 Genomic DNA Translation: AAD54507.1 Sequence problems. AC011511 Genomic DNA No translation available. AC020931 Genomic DNA No translation available. BC126227 mRNA Translation: AAI26228.1 BC144093 mRNA Translation: AAI44094.1 AH008119 Genomic DNA Translation: AAD51619.1 |
CCDSi | CCDS12228.1 [P26358-1] CCDS45958.1 [P26358-2] |
PIRi | S22610 |
RefSeqi | NP_001124295.1, NM_001130823.2 [P26358-2] NP_001305659.1, NM_001318730.1 NP_001305660.1, NM_001318731.1 NP_001370.1, NM_001379.3 [P26358-1] |
Genome annotation databases
Ensembli | ENST00000340748; ENSP00000345739; ENSG00000130816 [P26358-1] ENST00000359526; ENSP00000352516; ENSG00000130816 [P26358-2] |
GeneIDi | 1786 |
KEGGi | hsa:1786 |
UCSCi | uc002mng.4 human [P26358-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X63692 mRNA Translation: CAA45219.1 AF180682 mRNA Translation: AAF23609.1 AC010077 Genomic DNA Translation: AAD54507.1 Sequence problems. AC011511 Genomic DNA No translation available. AC020931 Genomic DNA No translation available. BC126227 mRNA Translation: AAI26228.1 BC144093 mRNA Translation: AAI44094.1 AH008119 Genomic DNA Translation: AAD51619.1 |
CCDSi | CCDS12228.1 [P26358-1] CCDS45958.1 [P26358-2] |
PIRi | S22610 |
RefSeqi | NP_001124295.1, NM_001130823.2 [P26358-2] NP_001305659.1, NM_001318730.1 NP_001305660.1, NM_001318731.1 NP_001370.1, NM_001379.3 [P26358-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3EPZ | X-ray | 2.31 | A/B | 351-600 | [»] | |
3PTA | X-ray | 3.60 | A | 646-1600 | [»] | |
3SWR | X-ray | 2.49 | A | 601-1600 | [»] | |
4WXX | X-ray | 2.62 | A/B | 351-1600 | [»] | |
4YOC | X-ray | 2.92 | A | 600-1600 | [»] | |
4Z96 | X-ray | 2.85 | C | 1098-1129 | [»] | |
4Z97 | X-ray | 3.00 | C | 1098-1129 | [»] | |
5WVO | X-ray | 2.00 | C | 351-600 | [»] | |
5YDR | X-ray | 2.00 | B | 351-599 | [»] | |
SMRi | P26358 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 108123, 122 interactors |
CORUMi | P26358 |
DIPi | DIP-39693N |
ELMi | P26358 |
IntActi | P26358, 40 interactors |
MINTi | P26358 |
STRINGi | 9606.ENSP00000352516 |
Chemistry databases
BindingDBi | P26358 |
ChEMBLi | CHEMBL1993 |
DrugBanki | DB00928 Azacitidine DB01262 Decitabine DB12116 Epigallocatechin gallate DB01099 Flucytosine DB05668 Palifosfamide DB01035 Procainamide |
DrugCentrali | P26358 |
GuidetoPHARMACOLOGYi | 2605 |
Protein family/group databases
REBASEi | 1161 M.HsaDnmt1A 4240 M.HsaDnmt1B |
PTM databases
iPTMneti | P26358 |
PhosphoSitePlusi | P26358 |
SwissPalmi | P26358 |
Polymorphism and mutation databases
BioMutai | DNMT1 |
DMDMi | 12231019 |
Proteomic databases
EPDi | P26358 |
jPOSTi | P26358 |
MassIVEi | P26358 |
MaxQBi | P26358 |
PaxDbi | P26358 |
PeptideAtlasi | P26358 |
PRIDEi | P26358 |
ProteomicsDBi | 54320 [P26358-1] 54321 [P26358-2] 54322 [P26358-3] |
Genome annotation databases
Ensembli | ENST00000340748; ENSP00000345739; ENSG00000130816 [P26358-1] ENST00000359526; ENSP00000352516; ENSG00000130816 [P26358-2] |
GeneIDi | 1786 |
KEGGi | hsa:1786 |
UCSCi | uc002mng.4 human [P26358-1] |
Organism-specific databases
CTDi | 1786 |
DisGeNETi | 1786 |
GeneCardsi | DNMT1 |
GeneReviewsi | DNMT1 |
HGNCi | HGNC:2976 DNMT1 |
HPAi | CAB005876 HPA002694 |
MalaCardsi | DNMT1 |
MIMi | 126375 gene 604121 phenotype 614116 phenotype |
neXtProti | NX_P26358 |
OpenTargetsi | ENSG00000130816 |
Orphaneti | 314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome 456318 Hereditary sensory neuropathy-deafness-dementia syndrome |
PharmGKBi | PA27443 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IF68 Eukaryota COG0270 LUCA |
GeneTreei | ENSGT00390000005100 |
HOGENOMi | HOG000082497 |
InParanoidi | P26358 |
KOi | K00558 |
OMAi | HLCAFDT |
OrthoDBi | 898916at2759 |
PhylomeDBi | P26358 |
TreeFami | TF328926 |
Enzyme and pathway databases
BRENDAi | 2.1.1.37 2681 |
Reactomei | R-HSA-212300 PRC2 methylates histones and DNA R-HSA-427413 NoRC negatively regulates rRNA expression R-HSA-4655427 SUMOylation of DNA methylation proteins R-HSA-5334118 DNA methylation |
SIGNORi | P26358 |
Miscellaneous databases
ChiTaRSi | DNMT1 human |
EvolutionaryTracei | P26358 |
GeneWikii | DNMT1 |
GenomeRNAii | 1786 |
Pharosi | P26358 |
PROi | PR:P26358 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130816 Expressed in 215 organ(s), highest expression level in oocyte |
ExpressionAtlasi | P26358 baseline and differential |
Genevisiblei | P26358 HS |
Family and domain databases
InterProi | View protein in InterPro IPR001025 BAH_dom IPR018117 C5_DNA_meth_AS IPR001525 C5_MeTfrase IPR031303 C5_meth_CS IPR022702 Cytosine_MeTrfase1_RFD IPR010506 DMAP1-bd IPR017198 DNMT1-like IPR029063 SAM-dependent_MTases IPR002857 Znf_CXXC |
Pfami | View protein in Pfam PF01426 BAH, 2 hits PF06464 DMAP_binding, 1 hit PF00145 DNA_methylase, 1 hit PF12047 DNMT1-RFD, 1 hit PF02008 zf-CXXC, 1 hit |
PIRSFi | PIRSF037404 DNMT1, 1 hit |
PRINTSi | PR00105 C5METTRFRASE |
SMARTi | View protein in SMART SM00439 BAH, 2 hits SM01137 DMAP_binding, 1 hit |
SUPFAMi | SSF53335 SSF53335, 1 hit |
PROSITEi | View protein in PROSITE PS51038 BAH, 2 hits PS00094 C5_MTASE_1, 1 hit PS00095 C5_MTASE_2, 1 hit PS51679 SAM_MT_C5, 1 hit PS51058 ZF_CXXC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DNMT1_HUMAN | |
Accessioni | P26358Primary (citable) accession number: P26358 Secondary accession number(s): A0AV63 Q9UMZ6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 1, 1992 |
Last sequence update: | January 11, 2001 | |
Last modified: | November 13, 2019 | |
This is version 220 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references