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Results for the Protein: P11498
1709947
PC

PYC_HUMAN RecName: Full=Pyruvate carboxylase, mitochondrial; AltName: Full=Pyruvic carboxylase; Short=PCB; Flags: Precursor

Known Diseases associated with this Protein:
  PYRUVATE CARBOXYLASE DEFICIENCY
  PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY)
15
1
6
0
10
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

PycA - COG1038
COG4770 - COG4770
AccC - COG0439
CarB - COG0458
CPSase_L_chain - pfam00289
CPSase_L_D2 - pfam02786
Dala_Dala_lig_C - pfam07478
ATP-grasp - pfam02222
Biotin_carb_C - smart00878
Biotin_carb_C - pfam02785
COG5016 - COG5016
DRE_TIM_PC_TC_5S - cd07937
DRE_TIM_metallolyase - cd03174
HMGL-like - pfam00682
DRE_TIM_HMGL - cd07938
PYC_OADA - pfam02436
AccB - COG0511
lipoyl_domain - cd06849
Biotin_lipoyl - pfam00364
biotinyl_domain - cd06850
Biotinyl_lipoyl_doma - cd06663


Swiss-Prot Protein: P11498
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PycACOG1038311178
AccCCOG04394.4e-22536489
CarBCOG04583.7e-0637447
DRE_TIM_PC_TC_5Scd079377.1e-190565848
DRE_TIM_metallolyasecd031746.1e-96566840
DRE_TIM_HMGLcd079380.001636822
AccBCOG05116.1e-0710601178
lipoyl_domaincd068490.0002711061177
Biotinyl_lipoyl_domacd066631.6e-0611111177
biotinyl_domaincd068502.4e-2711111177
COG4770COG47701.2e-17436635
CPSase_L_chainpfam002893.5e-6637146
CPSase_L_D2pfam027863.2e-104151360
ATP-grasppfam022220.00022158326
Biotin_carb_Cpfam027859.1e-51375482
COG5016COG50166.3e-725601059
HMGL-likepfam006823.5e-22571821
PYC_OADApfam024368.3e-1008611061
Biotin_lipoylpfam003649.1e-2511101177
Dala_Dala_lig_Cpfam074784e-05158340
Biotin_carb_Csmart008786.1e-56375482

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008095Diseasep.ALA610THRPyruvate carboxylase deficiency (PC deficiency)
Swiss-ProtVAR_015200Diseasep.ARG451CYSPyruvate carboxylase deficiency (PC deficiency)
Swiss-ProtVAR_058957Diseasep.ARG156GLNPyruvate carboxylase deficiency (PC deficiency)
Swiss-ProtVAR_058961Diseasep.ARG631GLNPyruvate carboxylase deficiency (PC deficiency)
Swiss-ProtVAR_058960Diseasep.ARG583LEUPyruvate carboxylase deficiency (PC deficiency)
Swiss-ProtVAR_058958Diseasep.ARG270TRPPyruvate carboxylase deficiency (PC deficiency)
Swiss-ProtVAR_048416Polymorphismp.HIS76LEUN/A
Swiss-ProtVAR_008096Diseasep.MET743ILEPyruvate carboxylase deficiency (PC deficiency)
Swiss-ProtVAR_058959Diseasep.TYR304CYSPyruvate carboxylase deficiency (PC deficiency)
Swiss-ProtVAR_015199Diseasep.VAL145ALAPyruvate carboxylase deficiency (PC deficiency)
OMIM608786.0001 Diseasep.ALA610THRPYRUVATE CARBOXYLASE DEFICIENCY
OMIM608786.0004 Diseasep.ARG451CYSPYRUVATE CARBOXYLASE DEFICIENCY
OMIM608786.0007 Diseasep.ARG156GLNPYRUVATE CARBOXYLASE DEFICIENCY
OMIM608786.0008 Diseasep.ARG583LEUPYRUVATE CARBOXYLASE DEFICIENCY
OMIM608786.0002 Diseasep.MET743ILEPYRUVATE CARBOXYLASE DEFICIENCY
OMIM608786.0003 Diseasep.VAL145ALAPYRUVATE CARBOXYLASE DEFICIENCY



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