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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
IdentifierUniProt:P50747
DatabaseUniProt
SpeciesHomo sapiens
DescriptionrecommendedName: Biotin--protein ligase ecNumber6.3.4.-/ecNumber alternativeName: Biotin apo-protein ligase domain recommendedName: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase ecNumber6.3.4.9/ecNumber /domain domain recommendedName: Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase ecNumber6.3.4.10/ecNumber alternativeName: Holocarboxylase synthetase shortName:HCS /domain domain recommendedName: Biotin--[methylcrotonoyl-CoA-carboxylase] ligase ecNumber6.3.4.11/ecNumber /domain domain recommendedName: Biotin--[acetyl-CoA-carboxylase] ligase ecNumber6.3.4.15/ecNumber /domain
Links to corresponding entries in other databasesBioGPS Gene:3141
Brenda:6.3.4.10
Brenda:6.3.4.11
Brenda:6.3.4.15
Brenda:6.3.4.9
CTD Gene:3141
EC:6.3.4.10
EC:6.3.4.11
EC:6.3.4.15
EC:6.3.4.9
ENSEMBL:ENSG00000159267
GeneCards:P50747
HapMap:NM_000411
IntEnz:6.3.4.10
IntEnz:6.3.4.11
IntEnz:6.3.4.15
IntEnz:6.3.4.9
KEGG Gene:3141
NCBI Gene:3141
OMIM:253270
OMIM:609018
RefSeq:NM_000411
RefSeq:NP_000402
UCSC human:P50747
UniProt:P50747
dbSNP Gene:3141
Other identifiers related to this sequenceBPL1_HUMAN, D3DSG6, Q99451, ENSG00000159267, ENST00000336648, ENSP00000338387, ENST00000399120, ENSP00000382071, 209399_at, 206558_at, 207833_s_at, 241726_at, 39608_at, 37764_at, 87429_at, U80456_at, D87328_at, g7108363_3p_at, g1813423_3p_at, Hs.223368.0.A1_3p_at, g4504418_3p_a_at, A_14_P114297, A_14_P106854, A_14_P107774, A_23_P304991, CCDS13647, GE656298, GE80913, GE608009, D23672, D87328, AP000697, AP000703, AP000701, AP000698, AB063285, AP001727, AP001726, BC060787, AJ001864, EntrezGene:3141, GI_19923101-S, ILMN_2816, IPI00301907, IPI00790061, IPI00790737, IPI00793410, MIM:609018, MIM:253270, OTTHUMP00000109039, OTTHUMT00000194687, BAA04902, BAA13332, BAA89434, BAB68550, BAA95511, BAA95510, AAH60787, CAA05056, NM_000411, NP_000402, OTTHUMT00000194686, Hs.613792, Hs.371350, P50747, BPL1_HUMAN, IPR003142, IPR004143
Molecules with this sequenceHLCS [cytosol] UKENBCdOORHGUR
HLCS R508W [cytosol] UKENBCdOORHGUR
HLCS V550M [cytosol] UKENBCdOORHGUR
HLCS G261Vfs*20 [cytosol] UKENBCdOORHGUR
HLCS D571N [cytosol] UKENBCdOORHGUR
HLCS G581S [cytosol] UKENBCdOORHGUR
HLCS L216R [cytosol] UKENBCdOORHGUR
HLCS L237P [cytosol] UKENBCdOORHGUR
Represented by generalisation(s)HLCS mutants [cytosol]
Processes where molecules and complexes with this sequence are involved

Metabolism

Disease

Modifications in molecules with this sequenceglycine 581 replaced with L-serine
L-arginine 508 replaced with L-tryptophan
L-leucine 216 replaced with L-arginine
L-leucine 237 replaced with L-proline
L-aspartic acid 571 replaced with L-asparagine
L-valine 550 replaced with L-methionine
Replacement of residues 261 to 279 by VHCTRQSRTWFSPRLTRAR
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