Home News About DMDM Database Statistics Research Publications Contact  

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
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:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
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



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