Gene/Proteome Database (LMPD)

LMPD ID
LMP002863
Gene ID
686
Species
Homo sapiens (Human)
Gene Name
biotinidase
Gene Symbol
BTD
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

Entrez Gene ID
686
Gene Name
biotinidase
Gene Symbol
BTD
Species
Homo sapiens

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

InterPro Annotations

Accession Description
IPR012101 Biotinidase, eukaryotic
IPR003010 Carbon-nitrogen hydrolase

UniProt Annotations

Entry Information

Gene Name
biotinidase
Protein Entry
P43251_HUMAN
UniProt ID
Species
Human

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]