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Results for the Protein: P50747
1705499

BPL1_HUMAN RecName: Full=Biotin--protein ligase; AltName: Full=Biotin apo-protein ligase; Includes: RecName: Full=Biotin--[methylmalonyl-CoA-carboxytransferase] ligase; Includes: RecName: Full=Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase; AltName: Full=Holocarboxylase synthetase; Short=HCS; Includes: RecName: Full=Biotin--[methylcrotonoyl-CoA-carboxylase] ligase; Includes: RecName: Full=Biotin--[acetyl-CoA-carboxylase] ligase

Known Diseases associated with this Protein:
  HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
  HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (HLCS DEFICIENCY)
27
4
6
3
22
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Default View:

BPL_N - pfam09825
BPL_LplA_LipB - pfam03099
BirA - COG0340
BPL_C - pfam02237




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BirACOG03401.5e-32472717
BPL_LplA_LipBpfam030991.3e-33471603
BPL_Cpfam022372.2e-06669719
BPL_Npfam098250.00051195460

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046507Diseasep.ARG183PROHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046508Diseasep.ARG360SERHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_013009Diseasep.ARG508TRPHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_021219Diseasep.ASN511LYSHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_009199Diseasep.ASP571ASNHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046515Diseasep.ASP634ASNHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046517Diseasep.ASP715GLYHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046514Diseasep.ASP615TYRHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046516Diseasep.ASP634TYRHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_035800Polymorphismp.GLU42ASPN/A
Swiss-ProtVAR_021220Diseasep.GLY582ARGHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046512Diseasep.GLY518GLUHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_009200Diseasep.GLY581SERHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_021218Diseasep.LEU216ARGHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_005084Diseasep.LEU237PROHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046511Diseasep.LEU470SERHolocarboxylase synthetase deficiency (HLCS deficiency)
dbSNPrs1065758 Polymorphismp.LYS278ASNN/A
dbSNPrs1065759 Polymorphismp.LYS351ASNN/A
Swiss-ProtVAR_009197Diseasep.THR462ILEHolocarboxylase synthetase deficiency (HLCS deficiency)
dbSNPrs61732502 Polymorphismp.TYR96ASNN/A
Swiss-ProtVAR_046510Diseasep.TYR456CYSHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046509Diseasep.VAL363ASPHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_009196Diseasep.VAL333GLUHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_046513Diseasep.VAL547GLYHolocarboxylase synthetase deficiency (HLCS deficiency)
Swiss-ProtVAR_009198Diseasep.VAL550METHolocarboxylase synthetase deficiency (HLCS deficiency)
OMIM609018.0004 Diseasep.ARG508TRPHOLOCARBOXYLASE SYNTHETASE DEFICIENCY
OMIM609018.0003 Diseasep.ASP571ASNHOLOCARBOXYLASE SYNTHETASE DEFICIENCY
OMIM609018.0005 Diseasep.GLY581SERHOLOCARBOXYLASE SYNTHETASE DEFICIENCY
OMIM609018.0009 Diseasep.LEU216ARGHOLOCARBOXYLASE SYNTHETASE DEFICIENCY
OMIM609018.0002 Diseasep.LEU237PROHOLOCARBOXYLASE SYNTHETASE DEFICIENCY
OMIM609018.0006 Diseasep.VAL550METHOLOCARBOXYLASE SYNTHETASE DEFICIENCY



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