Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.
| RefSeq Version | NM_001379.2, 195546895 |
| Length | 5377 bp |
| Structure | linear |
| Update Date | 20-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA. |
| Product | DNA (cytosine-5)-methyltransferase 1 isoform b |
| Comment | Summary: DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. |
| RefSeq | NP_001370.1 |
| CDS | 181..5031 | Exon (1) | 1..260 | Exon (2) | 1..260 | Exon (3) | 261..297 | Exon (4) | 298..405 | Exon (5) | 406..625 | Exon (6) | 626..701 | Exon (7) | 702..780 | Exon (8) | 781..815 | Exon (9) | 816..900 | Exon (10) | 901..935 | Exon (11) | 936..1023 | Exon (12) | 1024..1058 | Exon (13) | 1059..1140 | Exon (14) | 1141..1175 | Exon (15) | 1176..1221 | Exon (16) | 1222..1302 | Exon (17) | 1303..1412 | Exon (18) | 1413..1531 | Exon (19) | 1532..1624 | Exon (20) | 1625..1776 | Exon (21) | 1777..1964 | Exon (22) | 1965..2151 | Exon (23) | 2152..2249 | Exon (24) | 2250..2397 | Exon (25) | 2398..2513 | Exon (26) | 2514..2718 | Exon (27) | 2719..2852 | Exon (28) | 2853..3026 | Exon (29) | 3027..3248 | Exon (30) | 3249..3441 | Exon (31) | 3442..3526 | Exon (32) | 3527..3655 | Exon (33) | 3656..3938 | Exon (34) | 3939..4080 | Exon (35) | 4081..4247 | Exon (36) | 4248..4425 | Exon (37) | 4426..4621 | Exon (38) | 4622..4788 | Exon (39) | 4789..4905 | Exon (40) | 4906..4996 | Exon (41) | 4997..5352 |
| Translation | MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQ
LCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRV
GMADANSPPKPLSKPRTPRRSKSDGEAKPEPSPSPRITRKSTRQTTITSHFAKGPAKRKP
QEESERAKSDESIKEEDKDQDEKRRRVTSRERVARPLPAEEPERAKSGTRTEKEEERDEK
EEKRLRSQTKEPTPKQKLKEEPDREARAGVQADEDEDGDEKDEKKHRSQPKDLAAKRRPE
EKEPEKVNPQISDEKDEDEKEEKRRKTTPKEPTEKKMARAKTVMNSKTHPPKCIQCGQYL
DDPDLKYGQHPPDAVDEPQMLTNEKLSIFDANESGFESYEALPQHKLTCFSVYCKHGHLC
PIDTGLIEKNIELFFSGSAKPIYDDDPSLEGGVNGKNLGPINEWWITGFDGGEKALIGFS
TSFAEYILMDPSPEYAPIFGLMQEKIYISKIVVEFLQSNSDSTYEDLINKIETTVPPSGL
NLNRFTEDSLLRHAQFVVEQVESYDEAGDSDEQPIFLTPCMRDLIKLAGVTLGQRRAQAR
RQTIRHSTREKDRGPTKATTTKLVYQIFDTFFAEQIEKDDREDKENAFKRRRCGVCEVCQ
QPECGKCKACKDMVKFGGSGRSKQACQERRCPNMAMKEADDDEEVDDNIPEMPSPKKMHQ
GKKKKQNKNRISWVGEAVKTDGKKSYYKKVCIDAETLEVGDCVSVIPDDSSKPLYLARVT
ALWEDSSNGQMFHAHWFCAGTDTVLGATSDPLELFLVDECEDMQLSYIHSKVKVIYKAPS
ENWAMEGGMDPESLLEGDDGKTYFYQLWYDQDYARFESPPKTQPTEDNKFKFCVSCARLA
EMRQKEIPRVLEQLEDLDSRVLYYSATKNGILYRVGDGVYLPPEAFTFNIKLSSPVKRPR
KEPVDEDLYPEHYRKYSDYIKGSNLDAPEPYRIGRIKEIFCPKKSNGRPNETDIKIRVNK
FYRPENTHKSTPASYHADINLLYWSDEEAVVDFKAVQGRCTVEYGEDLPECVQVYSMGGP
NRFYFLEAYNAKSKSFEDPPNHARSPGNKGKGKGKGKGKPKSQACEPSEPEIEIKLPKLR
TLDVFSGCGGLSEGFHQAGISDTLWAIEMWDPAAQAFRLNNPGSTVFTEDCNILLKLVMA
GETTNSRGQRLPQKGDVEMLCGGPPCQGFSGMNRFNSRTYSKFKNSLVVSFLSYCDYYRP
RFFLLENVRNFVSFKRSMVLKLTLRCLVRMGYQCTFGVLQAGQYGVAQTRRRAIILAAAP
GEKLPLFPEPLHVFAPRACQLSVVVDDKKFVSNITRLSSGPFRTITVRDTMSDLPEVRNG
ASALEISYNGEPQSWFQRQLRGAQYQPILRDHICKDMSALVAARMRHIPLAPGSDWRDLP
NIEVRLSDGTMARKLRYTHHDRKNGRSSSGALRGVCSCVEAGKACDPAARQFNTLIPWCL
PHTGNRHNHWAGLYGRLEWDGFFSTTVTNPEPMGKQGRVLHPEQHRVVSVRECARSQGFP
DTYRLFGNILDKHRQVGNAVPPPLAKAIGLEIKLCMLAKARESASAKIKEEEAAKD
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| complement(147) | - | g, a | dbSNP:112908248 |
| complement(386) | - | t, c | dbSNP:61750053 |
| complement(470) | - | t, c | dbSNP:16999593 |
| complement(538) | - | g, c | dbSNP:75616428 |
| 620 | + | c, g | dbSNP:1140470 |
| complement(707) | - | g, a | dbSNP:62621089 |
| complement(747) | - | t, c | dbSNP:114745319 |
| complement(819) | - | c, a | dbSNP:61758429 |
| complement(1057) | - | g, c | dbSNP:61758430 |
| 1111 | + | a, c, g, t | dbSNP:2228612 |
| complement(1113) | - | c, a | dbSNP:61758431 |
| complement(1128) | - | g, a | dbSNP:16999358 |
| complement(1227) | - | g, a | dbSNP:116502459 |
| 1521 | + | a, g | dbSNP:2228611 |
| complement(1632) | - | g, a | dbSNP:75443147 |
| 1764 | + | a, c, g | dbSNP:2228613 |
| complement(1914) | - | t, c | dbSNP:721186 |
| complement(2076) | - | g, a | dbSNP:61750052 |
| complement(2475) | - | g, a | dbSNP:111961208 |
| complement(2501) | - | g, a | dbSNP:113497353 |
| complement(2583) | - | t, c | dbSNP:112405538 |
| complement(2595) | - | g, a | dbSNP:61750051 |
| complement(2604) | - | t, c | dbSNP:45484792 |
| complement(2758) | - | t, c | dbSNP:62621087 |
| complement(3607..3608) | - | , c | dbSNP:35600922 |
| 4500 | + | c, t | dbSNP:2229858 |
| complement(4993) | - | , largedeletion | dbSNP:71656656 |
| complement(5115) | - | g, a | dbSNP:75515773 |
| complement(5127) | - | g, a | dbSNP:115729223 |
| 5178 | + | c, t | dbSNP:13784 |
| complement(5221) | - | g, a | dbSNP:111234445 |
| 5330 | + | a, t | dbSNP:11488 |
| Gene Symbol | DNMT1 |
| Gene Synonym | AIM; CXXC9; DNMT; FLJ16293; MCMT; MGC104992 |
| Chromosome | 19 |
| Locus Map | 19p13.2 |
| All Transcripts | NM_001379 , NM_001130823 |
| Title | Structure of DNMT1-DNA complex reveals a role for autoinhibition in maintenance DNA methylation . |
| Author | Song,J., Rechkoblit,O., Bestor,T.H. and Patel,D.J. |
| Journal | Science 331 (6020), 1036-1040 (2011) |
| Title | Effects of specific DNMT gene depletion on cancer cell transformation and breast cancer cell invasion; toward selective . |
| Author | Chik,F. and Szyf,M. |
| Journal | Carcinogenesis 32 (2), 224-232 (2011) |
| Title | A methylation and phosphorylation switch between an adjacent lysine and serine determines human DNMT1 stability . |
| Author | Esteve,P.O., Chang,Y., Samaranayake,M., Upadhyay,A.K., Horton,J.R., Feehery,G.R., Cheng,X. and Pradhan,S. |
| Journal | Nat. Struct. Mol. Biol. 18 (1), 42-48 (2011) |
| Title | HPV-16 E6 upregulation of DNMT1 through repression of tumor suppressor p53 . |
| Author | Au Yeung,C.L., Tsang,W.P., Tsang,T.Y., Co,N.N., Yau,P.L. and Kwok,T.T. |
| Journal | Oncol. Rep. 24 (6), 1599-1604 (2010) |
| Title | DNMT1 stability is regulated by proteins coordinating deubiquitination and acetylation-driven ubiquitination . |
| Author | Du,Z., Song,J., Wang,Y., Zhao,Y., Guda,K., Yang,S., Kao,H.Y., Xu,Y., Willis,J., Markowitz,S.D., Sedwick,D., Ewing,R.M. and Wang,Z. |
| Journal | Sci Signal 3 (146), RA80 (2010) |
| Title | Human DNA-(cytosine-5) methyltransferase-PCNA complex as a target for p21WAF1 . |
| Author | Chuang,L.S., Ian,H.I., Koh,T.W., Ng,H.H., Xu,G. and Li,B.F. |
| Journal | Science 277 (5334), 1996-2000 (1997) |
| Title | New 5' regions of the murine and human genes for DNA (cytosine-5)-methyltransferase . |
| Author | Yoder,J.A., Yen,R.W., Vertino,P.M., Bestor,T.H. and Baylin,S.B. |
| Journal | J. Biol. Chem. 271 (49), 31092-31097 (1996) |
| Title | E2F-5, a new E2F family member that interacts with p130 in vivo . |
| Author | Hijmans,E.M., Voorhoeve,P.M., Beijersbergen,R.L., van 't Veer,L.J. and Bernards,R. |
| Journal | Mol. Cell. Biol. 15 (6), 3082-3089 (1995) |
| Title | Isolation and characterization of the cDNA encoding human DNA methyltransferase . |
| Author | Yen,R.W., Vertino,P.M., Nelkin,B.D., Yu,J.J., el-Deiry,W., Cumaraswamy,A., Lennon,G.G., Trask,B.J., Celano,P. and Baylin,S.B. |
| Journal | Nucleic Acids Res. 20 (9), 2287-2291 (1992) |
| Title | Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells. The carboxyl-terminal domain of the mammalian enzymes is related to bacterial restriction methyltransferases . |
| Author | Bestor,T., Laudano,A., Mattaliano,R. and Ingram,V. |
| Journal | J. Mol. Biol. 203 (4), 971-983 (1988) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |