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Results for the Protein: O14802
206729892

RPC1_HUMAN RecName: Full=DNA-directed RNA polymerase III subunit RPC1; Short=RNA polymerase III subunit C1; AltName: Full=DNA-directed RNA polymerase III largest subunit; AltName: Full=DNA-directed RNA polymerase III subunit A; AltName: Full=RNA polymerase III 155 kDa subunit; Short=RPC155; AltName: Full=RNA polymerase III subunit C160

Known Diseases associated with this Protein:
  HYPOGONADISM
  HYPOGONADOTROPIC HYPOGONADISM
  LEUKODYSTROPHY, HYPOMYELINATING
  LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA
  LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA AND HYPOGONADOTROPIC
  LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR
  LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (HLD7)
  LEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA OR HYPOGONADOTROPIC
14
2
5
1
10
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

RpoC - COG0086
RNA_pol_Rpb1_1 - pfam04997
RPOLA_N - smart00663
RNA_pol_Rpb1_2 - pfam00623
RNA_pol_Rpb1_3 - pfam04983
RNA_pol_Rpb1_4 - pfam05000
RNA_pol_Rpb1_5 - pfam04998
RNAP_A'' - cd06528
RNAP_II_Rpb1_C - cd02584
RNAP_III_Rpc1_C - cd02736
RNAP_I_Rpa1_C - cd02735
RNAP_beta'_C - cd02655
RNAP_largest_subunit - cd00630
RNAP_IV_NRPD1_C - cd02737


Swiss-Prot Protein: O14802
Identical to: NP_008986
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RpoCCOG00864.4e-2675927
RNAP_A''cd065284.8e-779741366
RNAP_II_Rpb1_Ccd025845.8e-4110041365
RNAP_III_Rpc1_Ccd027363.9e-25410211360
RNAP_I_Rpa1_Ccd027351.9e-1910211363
RNAP_beta'_Ccd026555.4e-1110281359
RNAP_largest_subunitcd006304e-16410301359
RNAP_IV_NRPD1_Ccd027378.7e-0710301364
RNA_pol_Rpb1_1pfam049971.7e-16112356
RNA_pol_Rpb1_2pfam006232.5e-112358525
RNA_pol_Rpb1_3pfam049834e-68528703
RNA_pol_Rpb1_4pfam050006.7e-48728834
RNA_pol_Rpb1_5pfam049982.5e-2008411318
RPOLA_Nsmart006631e-171248550

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066523Diseasep.ARG1005CYSLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
Swiss-ProtVAR_051873Polymorphismp.ARG582LEUN/A
Swiss-ProtVAR_066521Diseasep.ASN775ILELeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
Swiss-ProtVAR_066516Diseasep.ASP372ASNLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
Swiss-ProtVAR_066520Diseasep.CYS724TYRLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
Swiss-ProtVAR_066519Diseasep.GLY672GLULeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
Swiss-ProtVAR_067004Diseasep.ILE897ASNLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
dbSNPrs35354908 Polymorphismp.LYS713ASNN/A
Swiss-ProtVAR_066522Diseasep.MET852VALLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
Swiss-ProtVAR_066517Diseasep.PHE558LEULeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
Swiss-ProtVAR_066518Diseasep.SER636TYRLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
OMIM614258.0007 Diseasep.ARG1005CYSLEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA OR HYPOGONADOTROPIC||HYPOGONADISM
OMIM614258.0005 Diseasep.ARG140TERLEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA
OMIM614258.0001 Diseasep.GLY672GLULEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR||HYPOGONADOTROPIC HYPOGONADISM
OMIM614258.0006 Diseasep.ILE897ASNLEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA OR HYPOGONADOTROPIC||HYPOGONADISM
OMIM614258.0003 Diseasep.MET852VALLEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA AND HYPOGONADOTROPIC||HYPOGONADISM||LEUKODYSTROPHY, HYPOMYELINATING



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