Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P26358
12231019

DNMT1_HUMAN RecName: Full=DNA (cytosine-5)-methyltransferase 1; Short=Dnmt1; AltName: Full=CXXC-type zinc finger protein 9; AltName: Full=DNA methyltransferase HsaI; Short=DNA MTase HsaI; Short=M.HsaI; AltName: Full=MCMT

Known Diseases associated with this Protein:
  CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
  CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (ADCADN)
  NEUROPATHY, HEREDITARY SENSORY, 1E (HSN1E)
  NEUROPATHY, HEREDITARY SENSORY, TYPE IE
10
4
6
3
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

DMAP_binding - pfam06464
DNMT1-RFD - pfam12047
BAH_Dnmt1_I - cd04760
zf-CXXC - pfam02008
BAH_DCM_I - cd04712
BAH - cd04370
BAH - pfam01426
BAH - smart00439
BAH_plantDCM_II - cd04708
BAH_Dnmt1_II - cd04711
Dcm - COG0270
Cyt_C5_DNA_methylase - cd00315
DNA_methylase - pfam00145


Swiss-Prot Protein: P26358
Identical to: NP_001370
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BAH_Dnmt1_Icd047602.5e-06597753
BAH_DCM_Icd047121.8e-06752881
BAHcd043705.8e-31754878
BAH_Dnmt1_Icd047603.8e-97754900
BAH_plantDCM_IIcd047085.9e-099271151
BAHcd043707.8e-499301097
BAH_Dnmt1_IIcd047113.6e-1109651101
DcmCOG02702.4e-3911361600
Cyt_C5_DNA_methylasecd003152.5e-1711391594
zf-CXXCpfam020081.3e-22645691
BAHpfam014261.1e-36755880
BAHpfam014266.2e-369661100
DNA_methylasepfam001452.9e-2111391594
DMAP_bindingpfam064644.9e-3116106
DNMT1-RFDpfam120471.2e-56399534
BAHsmart004398.8e-36756880
BAHsmart004392.2e-459321100

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070055Diseasep.ALA554VALCerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
Swiss-ProtVAR_070056Diseasep.GLY589ALACerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
dbSNPrs16999593 Polymorphismp.HIS97ARGN/A
dbSNPrs2228613 Polymorphismp.ILE528METN/A
dbSNPrs2228612 Polymorphismp.ILE311PHEN/A
Swiss-ProtVAR_051960Polymorphismp.ILE311VALN/A
Swiss-ProtVAR_065966Diseasep.TYR495CYSNeuropathy, hereditary sensory, 1E (HSN1E)
Swiss-ProtVAR_070057Diseasep.VAL590PHECerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
OMIM126375.0004 Diseasep.ALA554VALCEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
OMIM126375.0002 Diseasep.ASP474GLUNEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM126375.0005 Diseasep.GLY589ALACEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
OMIM126375.0002 Diseasep.PRO475TYRNEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM126375.0001 Diseasep.TYR479CYSNEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM126375.0003 Diseasep.VAL590PHECEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258