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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
Orphanet:16203
PRO:P50747
RefSeq:NM_000411
RefSeq:NP_000402
UCSC human:P50747
UniProt:P50747
dbSNP Gene:3141
Other identifiers related to this sequenceBPL1_HUMAN, B2RAH1, D3DSG6, Q99451, 3931191, BC060787, 3931122, GE80913, 3931196, 3931119, HLCS, BAA04902, ILMN_1792669, AP001726, D87328_at, 3931209, 3931195, 11737371_a_at, BAB68550, 3931210, 3931109, XM_006723996, g1813423_3p_at, CH471079, 3931128, 3931114, XP_006724057, OTTHUMP00000109038, EntrezGene:3141, 3931200, C9JCQ9, PH_hs_0024180, AP000697, AP000698, BAA95510, D23672, BAA95511, g4504418_3p_a_at, XM_005260955, XP_005261013, AP000703, XM_006723994, IPR004143, 3141, XP_006724059, XP_006724056, 7842009, BAA13332, AP000699, 3931118, PF03099, NP_000402, CCDS13647, MIM:253270, HLCS-001, XP_005261010, ENSG00000159267, 209399_at, AP000701, 8070239, PF02237, uc002yvs.3, AAH60787, XM_005260956, 16925466, AP000700, HPA017379, 3931201, AJ001864, AP000702, XM_005260953, Hs.613792, 3931117, 3931113, AP000704, 3931197, AB063285, Hs.371350, 3931116, UPI0000126A8C, 3931179, ILMN_2191402, 207833_s_at, XP_005261012, 11744447_a_at, 11748723_a_at, D87328, 3931121, CAA05056, ENSP00000338387, IPR003142, NM_000411, 3931108, 37764_at, 3931132, IPR004408, 3931111, XM_006723993, EAX09731, 0002970113, C9JD75, 3931199, EAX09732, 3931115, 3931225, A_23_P304991, HGNC:4976, BAA89434, MIM:609018, AP001727, NM_001242784, 3931215, 3931206, 3931207, OTTHUMP00000109039, 3931214, HLCS-002, 3931216, NP_001229713, ENSP00000382071, uc010gnb.3, HLCS-003, ENSP00000392923, 3931194, 3931221, UPI000016A054, OTTHUMP00000109040, 3931222
Molecules with this sequenceHLCS [cytosol] UKENBCdOOORHPGUR
HLCS R508W [cytosol] UKENBCdOOORHPGUR
HLCS V550M [cytosol] UKENBCdOOORHPGUR
HLCS G261Vfs*20 [cytosol] UKENBCdOOORHPGUR
HLCS D571N [cytosol] UKENBCdOOORHPGUR
HLCS G581S [cytosol] UKENBCdOOORHPGUR
HLCS L216R [cytosol] UKENBCdOOORHPGUR
HLCS L237P [cytosol] UKENBCdOOORHPGUR
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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