MGP Database

MGP000341

Record overview

MGPD ID	MGP000341
Gene ID	686
Species	Homo sapiens (Human)
Gene Name	biotinidase
Gene Symbol	BTD
Alternate names	biotinidase; biotinase;
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	View orthologs and multiple alignments for BTD

Proteins

biotinidase isoform 1

Refseq ID:	NP_001268652
Protein GI:	528524481
UniProt ID:	P43251
mRNA ID:	NM_001281723
Length:	545
RefSeq Status:

MPEGGGTSRRLLPMQSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVM
TAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNV
VFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLA
ANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEM
MYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPL
FLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD

biotinidase isoform 2
`sig_peptide: 1..21 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2160 peptide sequence: MSGARSKLALFLCGCYVVALG`

Refseq ID:	NP_001268653
Protein GI:	528524483
UniProt ID:	P43251
mRNA ID:	NM_001281724
Length:	545
RefSeq Status:

MARKETQLIIKMNHLARFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVM
TAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNV
VFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLA
ANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEM
MYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPL
FLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD

biotinidase isoform 3
`sig_peptide: 1..21 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2160 peptide sequence: MSGARSKLALFLCGCYVVALG`

Refseq ID:	NP_000051
Protein GI:	4557373
UniProt ID:	P43251
mRNA ID:	NM_000060
Length:	543
RefSeq Status:

MAHAHIQGGRRAKSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTA
AQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVF
SNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAAN
VHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMY
DNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFL
TSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD

biotinidase isoform 4 precursor

Refseq ID:	NP_001268654
Protein GI:	528524486
UniProt ID:	P43251
mRNA ID:	NM_001281725
Length:	523
RefSeq Status:

MSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNF
TRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAA
FDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESF
WYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSN
GLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYF
LRKSRLSSGLVTAALYGRLYERD

biotinidase isoform 5
`sig_peptide: 1..21 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2160 peptide sequence: MSGARSKLALFLCGCYVVALG`

Refseq ID:	NP_001268655
Protein GI:	528524488
UniProt ID:
mRNA ID:	NM_001281726
Length:	179
RefSeq Status:

`MAHAHIQGGRRAKSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTA AQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVIPAFFLSRLRVHRGDLSQGPEAVTC`

`sig_peptide: 1..21 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2160 peptide sequence: MSGARSKLALFLCGCYVVALG`