Gene/Proteome Database (LMPD)
LMPD ID
LMP002863
Gene ID
Species
Homo sapiens (Human)
Gene Name
biotinidase
Gene Symbol
Synonyms
-
Chromosome
3
Map Location
3p25
EC Number
3.5.1.12
Summary
The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
Orthologs
Proteins
biotinidase isoform 1 | |
---|---|
Refseq ID | NP_001268652 |
Protein GI | 528524481 |
UniProt ID | P43251 |
mRNA ID | NM_001281723 |
Length | 545 |
RefSeq Status | REVIEWED |
MPEGGGTSRRLLPMQSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD |
biotinidase isoform 2 | |
---|---|
Refseq ID | NP_001268653 |
Protein GI | 528524483 |
UniProt ID | P43251 |
mRNA ID | NM_001281724 |
Length | 545 |
RefSeq Status | REVIEWED |
MARKETQLIIKMNHLARFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD |
biotinidase isoform 3 | |
---|---|
Refseq ID | NP_000051 |
Protein GI | 4557373 |
UniProt ID | P43251 |
mRNA ID | NM_000060 |
Length | 543 |
RefSeq Status | REVIEWED |
MAHAHIQGGRRAKSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD |
biotinidase isoform 4 precursor | |
---|---|
Refseq ID | NP_001268654 |
Protein GI | 528524486 |
UniProt ID | P43251 |
mRNA ID | NM_001281725 |
Length | 523 |
RefSeq Status | REVIEWED |
MSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD |
biotinidase isoform 5 | |
---|---|
Refseq ID | NP_001268655 |
Protein GI | 528524486 |
UniProt ID | P43251 |
mRNA ID | NM_001281726 |
Length | 523 |
RefSeq Status | REVIEWED |
MSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD | |
sig_peptide: 1..21 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2160 peptide sequence: MSGARSKLALFLCGCYVVALG |
Gene Information
Gene Ontology (GO Annotations)
GO ID | Source | Type | Description |
---|---|---|---|
GO:0045177 | IEA:Ensembl | C | apical part of cell |
GO:0005576 | TAS:Reactome | C | extracellular region |
GO:0005615 | IDA:UniProt | C | extracellular space |
GO:0070062 | IDA:UniProtKB | C | extracellular vesicular exosome |
GO:0005759 | TAS:Reactome | C | mitochondrial matrix |
GO:0005730 | IEA:Ensembl | C | nucleolus |
GO:0043204 | IEA:Ensembl | C | perikaryon |
GO:0004075 | TAS:ProtInc | F | biotin carboxylase activity |
GO:0047708 | IEA:UniProtKB-EC | F | biotinidase activity |
GO:0006768 | TAS:Reactome | P | biotin metabolic process |
GO:0007417 | TAS:ProtInc | P | central nervous system development |
GO:0008544 | TAS:ProtInc | P | epidermis development |
GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
GO:0006766 | TAS:Reactome | P | vitamin metabolic process |
GO:0006767 | TAS:Reactome | P | water-soluble vitamin metabolic process |
KEGG Pathway Links
KEGG Pathway ID | Description |
---|---|
hsa00780 | Biotin metabolism |
hsa04977 | Vitamin digestion and absorption |
ko04977 | Vitamin digestion and absorption |
REACTOME Pathway Links
REACTOME Pathway ID | Description |
---|---|
REACT_11153 | Biotin transport and metabolism |
Domain Information
UniProt Annotations
Entry Information
Comments
Comment Type | Description |
---|---|
Alternative Products | Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P43251-1; Sequence=Displayed; Name=2; IsoId=P43251-2; Sequence=VSP_054925; Note=No experimental confirmation available.; Name=3; IsoId=P43251-3; Sequence=VSP_054926; Note=No experimental confirmation available.; Name=4; IsoId=P43251-4; Sequence=VSP_055921; Note=No experimental confirmation available.; |
Catalytic Activity | Biotin amide + H(2)O = biotin + NH(3). |
Caution | It is uncertain whether Met-1 or Met-21 is the initiator. |
Disease | Biotinidase deficiency (BTD deficiency) [MIM |
Function | Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. |
Similarity | Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. |
Similarity | Contains 1 CN hydrolase domain. {ECO |
Subcellular Location | Secreted, extracellular space. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002863 (as displayed in Record Overview)
Protein GI | Database | Accession | Length | Protein Name |
---|---|---|---|---|
528524481 | RefSeq | NP_001268652 | 545 | biotinidase isoform 1 |
528524483 | RefSeq | NP_001268653 | 545 | biotinidase isoform 2 |
4557373 | RefSeq | NP_000051 | 543 | biotinidase isoform 3 |
528524486 | RefSeq | NP_001268654 | 523 | biotinidase isoform 4 precursor |
528524486 | RefSeq | NP_001268655 | 523 | biotinidase isoform 5 |
Identical Sequences to LMP002863 proteins
Reference | Database | Accession | Length | Protein Name |
---|---|---|---|---|
GI:4557373 | DBBJ | BAG36062.1 | 543 | unnamed protein product [Homo sapiens] |
GI:528524483 | DBBJ | BAG57582.1 | 545 | unnamed protein product [Homo sapiens] |
GI:528524481 | DBBJ | BAG59561.1 | 545 | unnamed protein product [Homo sapiens] |
GI:4557373 | GenBank | AAH12099.1 | 543 | Biotinidase [Homo sapiens] |
GI:4557373 | GenBank | EAW64254.1 | 543 | biotinidase, isoform CRA_a [Homo sapiens] |
GI:4557373 | GenBank | AFO05706.1 | 543 | Sequence 344 from patent US 8216786 |
GI:4557373 | GenBank | AIC48374.1 | 543 | BTD, partial [synthetic construct] |
GI:528524486 | RefSeq | XP_005265474.1 | 523 | PREDICTED: biotinidase isoform X4 [Homo sapiens] |
GI:528524486 | RefSeq | XP_005265474.1 | 523 | PREDICTED: biotinidase isoform X4 [Homo sapiens] |
GI:528524486 | RefSeq | XP_006713377.1 | 523 | PREDICTED: biotinidase isoform X5 [Homo sapiens] |
GI:528524486 | RefSeq | XP_006713377.1 | 523 | PREDICTED: biotinidase isoform X5 [Homo sapiens] |
GI:528524486 | RefSeq | XP_006713378.1 | 523 | PREDICTED: biotinidase isoform X6 [Homo sapiens] |
GI:528524486 | RefSeq | XP_006713378.1 | 523 | PREDICTED: biotinidase isoform X6 [Homo sapiens] |
GI:4557373 | SwissProt | P43251.2 | 543 | RecName: Full=Biotinidase; Short=Biotinase; Flags: Precursor [Homo sapiens] |
Related Sequences to LMP002863 proteins
Reference | Database | Accession | Length | Protein Name |
---|---|---|---|---|
GI:528524486 | DBBJ | BAG36062.1 | 543 | unnamed protein product [Homo sapiens] |
GI:528524483 | DBBJ | BAG36062.1 | 543 | unnamed protein product [Homo sapiens] |
GI:528524486 | DBBJ | BAG36062.1 | 543 | unnamed protein product [Homo sapiens] |
GI:4557373 | DBBJ | BAG57582.1 | 545 | unnamed protein product [Homo sapiens] |
GI:4557373 | DBBJ | BAG59561.1 | 545 | unnamed protein product [Homo sapiens] |
GI:528524483 | GenBank | AAH12099.1 | 543 | Biotinidase [Homo sapiens] |
GI:528524486 | GenBank | AAH12099.1 | 543 | Biotinidase [Homo sapiens] |
GI:528524486 | GenBank | AAH12099.1 | 543 | Biotinidase [Homo sapiens] |
GI:528524486 | GenBank | EAW64254.1 | 543 | biotinidase, isoform CRA_a [Homo sapiens] |
GI:528524483 | GenBank | EAW64254.1 | 543 | biotinidase, isoform CRA_a [Homo sapiens] |
GI:528524486 | GenBank | EAW64254.1 | 543 | biotinidase, isoform CRA_a [Homo sapiens] |
GI:528524483 | GenBank | AFO05706.1 | 543 | Sequence 344 from patent US 8216786 |
GI:528524486 | GenBank | AFO05706.1 | 543 | Sequence 344 from patent US 8216786 |
GI:528524486 | GenBank | AFO05706.1 | 543 | Sequence 344 from patent US 8216786 |
GI:528524481 | GenBank | AFO05706.1 | 543 | Sequence 344 from patent US 8216786 |
GI:528524486 | RefSeq | NP_000051.1 | 543 | biotinidase isoform 3 [Homo sapiens] |
GI:528524483 | RefSeq | NP_000051.1 | 543 | biotinidase isoform 3 [Homo sapiens] |
GI:528524481 | RefSeq | NP_000051.1 | 543 | biotinidase isoform 3 [Homo sapiens] |
GI:528524486 | RefSeq | NP_000051.1 | 543 | biotinidase isoform 3 [Homo sapiens] |
GI:528524481 | RefSeq | XP_003776360.1 | 545 | PREDICTED: biotinidase isoform X1 [Pongo abelii] |
GI:528524481 | RefSeq | XP_003826257.1 | 545 | PREDICTED: biotinidase isoform X1 [Pan paniscus] |
GI:4557373 | RefSeq | XP_003826257.1 | 545 | PREDICTED: biotinidase isoform X1 [Pan paniscus] |
GI:4557373 | RefSeq | XP_003950087.1 | 545 | PREDICTED: biotinidase isoform X1 [Pan troglodytes] |
GI:528524481 | RefSeq | XP_003950087.1 | 545 | PREDICTED: biotinidase isoform X1 [Pan troglodytes] |
GI:528524481 | RefSeq | XP_004033738.1 | 545 | PREDICTED: biotinidase isoform 2 [Gorilla gorilla gorilla] |
GI:4557373 | RefSeq | NP_001268652.1 | 545 | biotinidase isoform 1 [Homo sapiens] |
GI:4557373 | RefSeq | NP_001268653.1 | 545 | biotinidase isoform 2 [Homo sapiens] |
GI:528524486 | SwissProt | P43251.2 | 543 | RecName: Full=Biotinidase; Short=Biotinase; Flags: Precursor [Homo sapiens] |
GI:528524486 | SwissProt | P43251.2 | 543 | RecName: Full=Biotinidase; Short=Biotinase; Flags: Precursor [Homo sapiens] |
GI:528524483 | SwissProt | P43251.2 | 543 | RecName: Full=Biotinidase; Short=Biotinase; Flags: Precursor [Homo sapiens] |