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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
RefSeq:NM_000060
RefSeq:NP_000051
UCSC human:P43251
UniProt:P43251
dbSNP Gene:686
Other identifiers related to this sequenceBTD_HUMAN, B2R865, Q96EM9, ENSG00000169814, ENST00000383778, ENSP00000373288, ENST00000303498, ENSP00000306477, 214117_s_at, 237190_at, 204167_at, 37274_at, 74058_at, U03274_at, Hs.126807.0.A1_3p_at, Hs.78885.1.S1_3p_a_at, g4557372_3p_at, A_14_P104570, A_23_P155351, A_23_P155348, CCDS2628, GE58865, U03274, AF018631, AF018630, BC012099, EntrezGene:686, GI_4557372-S, ILMN_24816, IPI00218413, IPI00744685, IPI00789424, MIM:609019, MIM:253260, AAC04318, AAC21679, AAH12099, NM_000060, NP_000051, OTTHUMT00000252103, Hs.517830, P43251, BTD_HUMAN, IPR003010
Molecules with this sequenceBTD [extracellular region] UKENBCdOORHGUR
BTD R538C [extracellular region] UKENBCdOORHGUR
BTD R79C [extracellular region] UKENBCdOORHGUR
BTD A755G [extracellular region] UKENBCdOORHGUR
BTD Q456H [extracellular region] UKENBCdOORHGUR
BTD C33Ffs*36 [extracellular region] UKENBCdOORHGUR
BTD G34S [extracellular region] UKENBCdOORHGUR
BTD A171T [extracellular region] UKENBCdOORHGUR
BTD [mitochondrial matrix] UKENBCdOORHGUR
BTD A755G [mitochondrial matrix] UKENBCdOORHGUR
BTD R538C [mitochondrial matrix] UKENBCdOORHGUR
BTD G34S [mitochondrial matrix] UKENBCdOORHGUR
BTD A171T [mitochondrial matrix] UKENBCdOORHGUR
BTD C33Ffs*36 [mitochondrial matrix] UKENBCdOORHGUR
BTD Q456H [mitochondrial matrix] UKENBCdOORHGUR
BTD R79C [mitochondrial matrix] UKENBCdOORHGUR
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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