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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
IdentifierUniProt:P43251
DatabaseUniProt
SpeciesHomo sapiens
DescriptionrecommendedName: Biotinidase shortName:Biotinase ecNumber3.5.1.12/ecNumber
Links to corresponding entries in other databasesBioGPS Gene:686
Brenda:3.5.1.12
CTD Gene:686
EC:3.5.1.12
ENSEMBL:ENSG00000169814
GeneCards:P43251
HapMap:NM_000060
IntEnz:3.5.1.12
KEGG Gene:686
NCBI Gene:686
OMIM:253260
OMIM:609019
Orphanet:15382
PRO:P43251
RefSeq:NM_000060
RefSeq:NP_000051
UCSC human:P43251
UniProt:P43251
dbSNP Gene:686
Other identifiers related to this sequenceBTD_HUMAN, A6NHF2, B2R865, B4DFX1, B4DLJ9, Q96EM9, XM_005265414, BAG36062, U03274_at, AAH12099, CCDS63563, AAC04318, AF018630, C9JSN9, AF018631, OTTHUMP00000209134, 0006110722, AK297033, 2612402, MIM:609019, A_14_P104570, BC012099, ENSP00000388212, AK313252, NP_001268652, C9J387, BAG59561, EAW64254, 37274_at, 2612424, 2612415, AAC21679, uc011avv.3, 214117_s_at, 11718202_a_at, 204167_at, 2612423, UPI00017A75A0, HPA052275, MIM:253260, ILMN_1699728, U03274, NM_000060, AK294301, 2612403, A_23_P155351, AC027129, IPR003010, ENSG00000169814, IPR012101, NM_001281723, GE58865, CH471055, g4557372_3p_at, 2612416, BAG57582, Hs.517830, BTD, F8W1Q3, PF00795, EntrezGene:686, 2612425, HGNC:1122, 8078147, Hs.78885.1.S1_3p_a_at, 8001986, 2612418, 2612426, 686, BTD-002, PH_hs_0004550, BTD-001, CCDS2628, XM_006713314, UPI000013E8A8, 2612427, 2612404, XP_006713377, OTTHUMP00000160300, XP_006713378, NP_000051, XM_006713315, 2612405, uc003cah.4, ENSP00000306477, BTD-003, 2612411, ENSP00000400995, CCDS63564, OTTHUMP00000209135, XM_005265415, 16938112, UPI00017A7026, 2612410, NM_001281724, NP_001268653, uc011avw.3
Molecules with this sequenceBTD [extracellular region] UKENBCdOOORHPGUR
BTD R538C [extracellular region] UKENBCdOOORHPGUR
BTD R79C [extracellular region] UKENBCdOOORHPGUR
BTD A755G [extracellular region] UKENBCdOOORHPGUR
BTD Q456H [extracellular region] UKENBCdOOORHPGUR
BTD C33Ffs*36 [extracellular region] UKENBCdOOORHPGUR
BTD G34S [extracellular region] UKENBCdOOORHPGUR
BTD A171T [extracellular region] UKENBCdOOORHPGUR
BTD [mitochondrial matrix] UKENBCdOOORHPGUR
BTD A755G [mitochondrial matrix] UKENBCdOOORHPGUR
BTD R538C [mitochondrial matrix] UKENBCdOOORHPGUR
BTD G34S [mitochondrial matrix] UKENBCdOOORHPGUR
BTD A171T [mitochondrial matrix] UKENBCdOOORHPGUR
BTD C33Ffs*36 [mitochondrial matrix] UKENBCdOOORHPGUR
BTD Q456H [mitochondrial matrix] UKENBCdOOORHPGUR
BTD R79C [mitochondrial matrix] UKENBCdOOORHPGUR
Represented by generalisation(s)BTD mutants [extracellular region]
BTD mutants [mitochondrial matrix]
Processes where molecules and complexes with this sequence are involved

Metabolism

Disease

Modifications in molecules with this sequenceglycine 34 replaced with L-serine
L-alanine 755 replaced with glycine
L-alanine 171 replaced with L-threonine
L-arginine 538 replaced with L-cysteine
L-arginine 79 replaced with L-cysteine
L-glutamine 456 replaced with L-histidine
Replacement of residues 33 to 67 by FLTWLPWEPTPGRRAWLTITRLNIMWLPCMSIHPS
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