Q24K09

SS
Gene name
DNMT1
Protein name
DNA (cytosine-5)-methyltransferase 1
Names
Dnmt1
Species
Bos taurus (Bovine)
KEGG Pathway
bta:281119
EC number
2.1.1.37: Methyltransferases
Protein Class

Descriptions

The eukaryotic maintenance DNA methyltransferase DNMT1 is multimodular protein composed of a replication foci-targeting domain (RFD), a DBA-binding CXXC domain, a pair of bromo-adjacent homology (BAH) domains, and a C-terminal catalytic domain, and mediates maintenance of genomic methylation patterns. In a study with mouse DNMT1, the CXXC may specifically bind to unmethylated CpG dinucleotide and position the CXXC-BAH1 linker between the DNA and the active site of DNMT1, preventing de novo methylation. Therefore, unmethylated CpG dinucleotides are occluded from the active site to ensure that only hemimethylated CpG dinucleotides undergo methylation.

Autoinhibitory domains (AIDs)

693-727 (CXXC-BAH1 linker) SS

Target domain

1136-1595 (Methyltransferase domain)

Relief mechanism

Others

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

4 structures for Q24K09

Entry ID Method Resolution Chain Position Source
6PZV X-ray 301 A C/G 349-594 PDB
7LMK X-ray 265 A PDB
7LMM X-ray 280 A PDB
AF-Q24K09-F1 Predicted AlphaFoldDB

No variants for Q24K09

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q24K09

2 associated diseases with Q24K09

[MIM: 617300]: Lymphatic malformation 7 (LMPHM7)

A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 618196]: Capillary malformation-arteriovenous malformation 2 (CMAVM2)

An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. . Note=The disease is caused by variants affecting the gene represented in this entry.

15 regional properties for Q24K09

Type Name Position InterPro Accession
domain Protein kinase domain 615 - 899 IPR000719
domain Ephrin receptor ligand binding domain 17 - 202 IPR001090
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 615 - 874 IPR001245
conserved_site Tyrosine-protein kinase, receptor class V, conserved site 178 - 198 IPR001426-1
conserved_site Tyrosine-protein kinase, receptor class V, conserved site 239 - 260 IPR001426-2
domain Sterile alpha motif domain 904 - 971 IPR001660
domain Fibronectin type III 323 - 432 IPR003961-1
domain Fibronectin type III 434 - 529 IPR003961-2
active_site Tyrosine-protein kinase, active site 736 - 748 IPR008266
domain Tyrosine-protein kinase ephrin type A/B receptor-like 261 - 299 IPR011641
binding_site Protein kinase, ATP binding site 621 - 647 IPR017441
domain Tyrosine-protein kinase, catalytic domain 615 - 874 IPR020635
domain Ephrin receptor, transmembrane domain 541 - 612 IPR027936
domain Ephrin type-B receptor 4, ligand binding domain 17 - 196 IPR034290
domain EPH-B4, SAM domain 907 - 973 IPR037636

Functions

Description
EC Number 2.1.1.37 Methyltransferases
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

4 GO annotations of molecular function

Name Definition
DNA (cytosine-5-)-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + DNA containing cytosine = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
promoter-specific chromatin binding Binding to a section of chromatin that is associated with gene promoter sequences of DNA.
zinc ion binding Binding to a zinc ion (Zn).

4 GO annotations of biological process

Name Definition
chromatin organization The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
maintenance of DNA methylation Any process involved in maintaining the methylation state of a nucleotide sequence.
positive regulation of DNA methylation-dependent heterochromatin assembly Any process that increases the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation.
Ras protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q92072 DNMT1 DNA Gallus gallus (Chicken) SS
P26358 DNMT1 DNA (cytosine-5)-methyltransferase 1 Homo sapiens (Human) EV
P13864 Dnmt1 DNA (cytosine-5)-methyltransferase 1 Mus musculus (Mouse) EV
Q9Z330 Dnmt1 DNA (cytosine-5)-methyltransferase 1 Rattus norvegicus (Rat) SS
O49139 CMT1 Putative DNA (cytosine-5)-methyltransferase CMT1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MPARTAPARV PALASRAFSL PDDVRRRLKD LERDSLTEKE CVKEKLNLLH EFLRTEIKNQ
70 80 90 100 110 120
LCDLETKLHK EELSEEGYLA KVKSLLNKDL SLENGAHAFS REANGCLENG SQTSGEDCRV
130 140 150 160 170 180
VMAEKGKPPK PVSRLYTPRR SKSDGETKSE VSSSPRITRK TTRQTTITSH FPRGPAKRKP
190 200 210 220 230 240
EEEPEKVKSD DSVDEEKDQE EKRRRVTSRE RVAGLLPAEE PGRVRPGTHM EEEGRDDKEE
250 260 270 280 290 300
KRLRSQTKEP TPKHKAKEEP DRDVRPGGAQ AEMNEGEDKD EKRHRSQPKD LASKRRPEEK
310 320 330 340 350 360
EPERVKPQVS DEKDEDEKEE KRRRTTYREL TEKKMTRTKI AVVSKTNPPK CTECLQYLDD
370 380 390 400 410 420
PELRYEQHPP DAVEEIQILT NERLSIFDAN ESGFESYEDL PQHKLTCFSV YCKRGHLCPI
430 440 450 460 470 480
DTGLIEKDVE LLFSGSAKPI YEDDPSPEGG INGKNFGPIN EWWIAGFDGG EKALLGFSTS
490 500 510 520 530 540
FAEYILMDPS PEYAPLFSVM QEKIYISKIV VEFLQSNPDS TYEDLINKIE TTVPPCMLNL
550 560 570 580 590 600
NRFTEDSLLR HAQFVVEQVE SYDRAGDSDE QPIFLSPCMR DLIKLAGVTL GKRRAERRQT
610 620 630 640 650 660
IRQPAKEKDK GPTKATTTKL VYQIFDTFFA EQIEKDDKED KENAFKRRRC GVCEICQQPE
670 680 690 700 710 720
CGKCKACKDM VKFGGSGRSK QACQKRRCPN MAMKEADDDE EVDDNIPEMP SPKKMHQGKK
730 740 750 760 770 780
KKQNKNRISW VGDAVKTDGK KSYYKKVCID SETLEVGDCV SVIPDDSSKP LYLARVTALW
790 800 810 820 830 840
EDSSNGQMFH AHWFCAGTDT VLGATSDPLE LFLVDECEDM QLSYIHSKVQ VIYKAPSENW
850 860 870 880 890 900
AMEGGVDPEA LMSEDDGKTY FYQLWYDQDY ARFESPPKTQ PTEDNKYKFC ASCARLAEMR
910 920 930 940 950 960
QKEIPRVVEQ LQDLEGRVLY SLATKNGVQY RVGDGVYLPP EAFTFNIKLS SPVKRPRKEP
970 980 990 1000 1010 1020
VDEALYPEHY RKYSDYIKGS NLDAPEPYRI GRIKEIFCSK KSNGRPNETD IKIRVNKFYR
1030 1040 1050 1060 1070 1080
PENTHKSTPA SYHADINLLY WSDEEAVVDF KAVQGRCTVE YGEDLPQCLQ DFSAGGPDRF
1090 1100 1110 1120 1130 1140
YFLEAYNAKS KSFEDPPNHA RSTGNKGKGK GKGKNRTKSQ TCEPSELETE IKLPKLRTLD
1150 1160 1170 1180 1190 1200
VFSGCGGLSE GFHQAGISET LWAIEMWDPA AQAFRLNNPG STVFTEDCNV LLKLVMAGEV
1210 1220 1230 1240 1250 1260
TNSRGQKLPQ KGDVEMLCGG PPCQGFSGMN RFNSRTYSKF KNSLVVSFLS YCDYYRPRYF
1270 1280 1290 1300 1310 1320
LLENVRNFVS FKRSMVLKLT LRCLVRMGYQ CTFGVLQAGQ YGVAQTRRRA IILAAAPGEP
1330 1340 1350 1360 1370 1380
LPLFPEPLHV FAPRACQLSV VVDDKKFVSN ITRLSSGPFR TITVRDTMSD LPEIRNGASA
1390 1400 1410 1420 1430 1440
LEISYNGEPQ SWFQRQLRGS QYQPILRDHI CKDMSALVAA RMRHIPLAPG SDWRDLPNIE
1450 1460 1470 1480 1490 1500
VRLSDGTLAR KLRYNYHDKK NGCSSSGALR GVCSCVEGKP CEPAARQFNT LIPWCLPHTG
1510 1520 1530 1540 1550 1560
NRHNHWAGLY GRLEWDGFFS TTVTNPEPMG KQGRVLHPEQ HRVVSVRECA RSQGFPDTYR
1570 1580 1590 1600 1610
LFGNILDKHR QVGNAVPPPL AKAIGLEIKR CMLAKARESA SAKIKEEAAK D