Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P20823
51338763

HNF1A_HUMAN RecName: Full=Hepatocyte nuclear factor 1-alpha; Short=HNF-1-alpha; Short=HNF-1A; AltName: Full=Liver-specific transcription factor LF-B1; Short=LFB1; AltName: Full=Transcription factor 1; Short=TCF-1

Known Diseases associated with this Protein:
  DIABETES MELLITUS, INSULIN-DEPENDENT, 20
  DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (IDDM20)
  DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
  INSULIN RESISTANCE, SUSCEPTIBILITY TO
  MATURITY-ONSET DIABETES OF THE YOUNG 3 (MODY3)
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
  RENAL CELL CARCINOMA, CHROMO
  RENAL CELL CARCINOMA, CLEAR CELL, INCLUDED;;
  SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF, INCLUDED
53
20
14
3
56
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:

HNF-1_N - pfam04814
homeodomain - cd00086
HOX - smart00389
HNF-1B_C - pfam04812
HNF-1A_C - pfam04813


Swiss-Prot Protein: P20823
Identical to: NP_000536
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000863.2e-20200279
HNF-1_Npfam048141.6e-1181176
HNF-1B_Cpfam048129.2e-161282541
HNF-1A_Cpfam048138.8e-50542630
HOXsmart003892.4e-17200276

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010551Diseasep.ALA161THRMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010540Polymorphismp.ALA98VALN/A
Swiss-ProtVAR_010554Diseasep.ARG203CYSMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010561Diseasep.ARG263CYSMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010563Polymorphismp.ARG272CYSN/A
Swiss-ProtVAR_010545Diseasep.ARG131GLNMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_003758Diseasep.ARG159GLNMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010556Diseasep.ARG229GLNMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010570Polymorphismp.ARG583GLNN/A
Swiss-ProtVAR_033093Polymorphismp.ARG244GLYN/A
Swiss-ProtVAR_003761Diseasep.ARG583GLYDiabetes mellitus, insulin-dependent, 20 (IDDM20)
Swiss-ProtVAR_012484Diseasep.ARG203HISMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_003759Diseasep.ARG272HISMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010546Diseasep.ARG131TRPMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010550Diseasep.ARG159TRPMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_063069Diseasep.ARG200TRPMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010562Diseasep.ARG271TRPMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_033092Polymorphismp.ASN237SERN/A
Swiss-ProtVAR_033088Polymorphismp.ASN127TYRN/A
Swiss-ProtVAR_010557Diseasep.CYS241GLYMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_033094Polymorphismp.GLN250PRON/A
Swiss-ProtVAR_010539Diseasep.GLU48LYSDiabetes mellitus, insulin-dependent, 20 (IDDM20)
Swiss-ProtVAR_010572Diseasep.GLU619LYSMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_012483Diseasep.GLY20ARGMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010565Diseasep.GLY415ARGDiabetes mellitus, insulin-dependent, 20 (IDDM20)
Swiss-ProtVAR_010552Polymorphismp.GLY191ASPN/A
Swiss-ProtVAR_010538Diseasep.GLY31ASPMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010564Polymorphismp.GLY319SERN/A
Swiss-ProtVAR_010569Polymorphismp.GLY574SERN/A
Swiss-ProtVAR_010566Polymorphismp.HIS514ARGN/A
Swiss-ProtVAR_010548Diseasep.HIS143TYRMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010543Diseasep.ILE128ASNMaturity-onset diabetes of the young 3 (MODY3)
dbSNPrs1169288 Polymorphismp.ILE27LEUN/A
Swiss-ProtVAR_012486Diseasep.ILE618METMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010541Diseasep.LEU107ARGMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010537Diseasep.LEU12HISMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010558Polymorphismp.LEU254METN/A
Swiss-ProtVAR_010549Diseasep.LYS158ASNMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010555Diseasep.LYS205GLNMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010542Diseasep.LYS117GLUMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_033096Polymorphismp.LYS273GLUN/A
Swiss-ProtVAR_033095Polymorphismp.PHE268CYSN/A
Swiss-ProtVAR_003760Diseasep.PRO447LEUMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010567Diseasep.PRO519LEUMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010544Diseasep.PRO129THRMaturity-onset diabetes of the young 3 (MODY3)
dbSNPrs2464196 Polymorphismp.SER487ASNN/A
Swiss-ProtVAR_012485Diseasep.SER432CYSMaturity-onset diabetes of the young 3 (MODY3)
dbSNPrs1169305 Polymorphismp.SER574GLYN/A
Swiss-ProtVAR_010571Diseasep.SER594ILEMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_003757Diseasep.SER142PHEMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010568Diseasep.THR537ARGMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010573Diseasep.THR620ILEMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010560Diseasep.THR260METMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_033089Polymorphismp.TRP165CYSN/A
Swiss-ProtVAR_033090Polymorphismp.TRP206CYSN/A
Swiss-ProtVAR_033091Polymorphismp.TRP206LEUN/A
Swiss-ProtVAR_003756Diseasep.TYR122CYSMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010559Diseasep.VAL259ASPMaturity-onset diabetes of the young 3 (MODY3)
Swiss-ProtVAR_010547Diseasep.VAL133METMaturity-onset diabetes of the young 3 (MODY3)
OMIM142410.0019 Diseasep.ALA276ASPMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM142410.0014 Diseasep.ARG583GLNMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM142410.0006 Diseasep.ARG583GLYDIABETES MELLITUS, INSULIN-DEPENDENT, 20
OMIM142410.0005 Diseasep.ARG272HISDIABETES MELLITUS, INSULIN-DEPENDENT, 20
OMIM142410.0016 Diseasep.ARG131TRPMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM142410.0022 Diseasep.GLY92ASPMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3||RENAL CELL CARCINOMA, CLEAR CELL, INCLUDED;;||RENAL CELL CARCINOMA, CHROMO
OMIM142410.0008 Diseasep.GLY319SERDIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
OMIM142410.0013 Diseasep.GLY574SERMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM142410.0011 Diseasep.ILE27LEUINSULIN RESISTANCE, SUSCEPTIBILITY TO||SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF, INCLUDED
OMIM142410.0015 Diseasep.PRO112LEUMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM142410.0002 Diseasep.PRO447LEUMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM142410.0021 Diseasep.SER531THRMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM142410.0009 Diseasep.THR620ILEMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM142410.0004 Diseasep.TYR122CYSMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3



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