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Protein

Biotinidase

Gene

BTD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

Caution

It is uncertain whether Met-1 or Met-21 is the initiator.Curated

Catalytic activityi

Biotin amide + H2O = biotin + NH3.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei112Proton acceptorPROSITE-ProRule annotation1
Active sitei212Proton donorPROSITE-ProRule annotation1
Active sitei245NucleophilePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

  • biotin metabolic process Source: GO_Central
  • central nervous system development Source: ProtInc

Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

BRENDAi3.5.1.12 2681
ReactomeiR-HSA-196780 Biotin transport and metabolism
R-HSA-3371598 Defective BTD causes biotidinase deficiency
SABIO-RKiP43251

Names & Taxonomyi

Protein namesi
Recommended name:
Biotinidase (EC:3.5.1.12)
Short name:
Biotinase
Gene namesi
Name:BTD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000169814.12
HGNCiHGNC:1122 BTD
MIMi609019 gene
neXtProtiNX_P43251

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Biotinidase deficiency (BTD deficiency)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.
See also OMIM:253260
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005113128F → V in BTD deficiency. 1 PublicationCorresponds to variant dbSNP:rs397514355EnsemblClinVar.1
Natural variantiVAR_005114171A → T in BTD deficiency. 2 PublicationsCorresponds to variant dbSNP:rs13073139EnsemblClinVar.1
Natural variantiVAR_005115228D → Y in BTD deficiency. 1 PublicationCorresponds to variant dbSNP:rs397514380EnsemblClinVar.1
Natural variantiVAR_005116323H → R in BTD deficiency; partial. 1 PublicationCorresponds to variant dbSNP:rs397507176EnsemblClinVar.1
Natural variantiVAR_005117444D → H in BTD deficiency; profound and partial; 52% decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs13078881Ensembl.1
Natural variantiVAR_005118451G → D in BTD deficiency; partial. 1 PublicationCorresponds to variant dbSNP:rs397514419EnsemblClinVar.1
Natural variantiVAR_005119456Q → H in BTD deficiency. 1 PublicationCorresponds to variant dbSNP:rs80338685EnsemblClinVar.1
Natural variantiVAR_005120532T → M in BTD deficiency. 1 PublicationCorresponds to variant dbSNP:rs104893688EnsemblClinVar.1
Natural variantiVAR_005121538R → C in BTD deficiency. 2 PublicationsCorresponds to variant dbSNP:rs80338686EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi686
GeneReviewsiBTD
MalaCardsiBTD
MIMi253260 phenotype
OpenTargetsiENSG00000169814
Orphaneti79241 Biotinidase deficiency
PharmGKBiPA25443

Polymorphism and mutation databases

BioMutaiBTD
DMDMi226693503

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 41Add BLAST41
ChainiPRO_000001970742 – 543BiotinidaseAdd BLAST502

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi119N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi150N-linked (GlcNAc...) (complex) asparagine3 Publications1
Glycosylationi203N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi349N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi402N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi489N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiP43251
MaxQBiP43251
PaxDbiP43251
PeptideAtlasiP43251
PRIDEiP43251
ProteomicsDBi55605

PTM databases

GlyConnecti1043
iPTMnetiP43251
PhosphoSitePlusiP43251

Expressioni

Gene expression databases

BgeeiENSG00000169814 Expressed in 200 organ(s), highest expression level in liver
CleanExiHS_BTD
ExpressionAtlasiP43251 baseline and differential
GenevisibleiP43251 HS

Organism-specific databases

HPAiHPA052275

Interactioni

Protein-protein interaction databases

BioGridi107151, 20 interactors
IntActiP43251, 5 interactors
STRINGi9606.ENSP00000306477

Structurei

3D structure databases

ProteinModelPortaliP43251
SMRiP43251
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini72 – 351CN hydrolasePROSITE-ProRule annotationAdd BLAST280

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG0806 Eukaryota
COG0388 LUCA
GeneTreeiENSGT00390000013823
HOGENOMiHOG000007627
HOVERGENiHBG003996
InParanoidiP43251
KOiK01435
OMAiEYYVAAV
OrthoDBiEOG091G04QD
PhylomeDBiP43251
TreeFamiTF323645

Family and domain databases

CDDicd07567 biotinidase_like, 1 hit
Gene3Di3.60.110.10, 1 hit
InterProiView protein in InterPro
IPR012101 Biotinidase-like_euk
IPR003010 C-N_Hydrolase
IPR036526 C-N_Hydrolase_sf
PfamiView protein in Pfam
PF00795 CN_hydrolase, 1 hit
PIRSFiPIRSF011861 Biotinidase, 1 hit
SUPFAMiSSF56317 SSF56317, 1 hit
PROSITEiView protein in PROSITE
PS50263 CN_HYDROLASE, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P43251-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA
60 70 80 90 100
DHHEAEYYVA AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA
110 120 130 140 150
AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN
160 170 180 190 200
DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF
210 220 230 240 250
SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF
260 270 280 290 300
FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
310 320 330 340 350
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA
360 370 380 390 400
TGETDPSHSK FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY
410 420 430 440 450
DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL GVFDGLHTVH
460 470 480 490 500
GTYYIQVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
510 520 530 540
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD
Length:543
Mass (Da):61,133
Last modified:April 14, 2009 - v2
Checksum:i1A999893A0784944
GO
Isoform 2 (identifier: P43251-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MAHAHIQGGRRAKS → MARKETQLIIKMNHLA

Note: No experimental confirmation available.
Show »
Length:545
Mass (Da):61,510
Checksum:iBD12F620C4FF7EE9
GO
Isoform 3 (identifier: P43251-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAHAHIQGGRRAK → MPEGGGTSRRLLPMQ

Note: No experimental confirmation available.
Show »
Length:545
Mass (Da):61,330
Checksum:iAC348AE5C8DF373C
GO
Isoform 4 (identifier: P43251-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: Missing.

Note: No experimental confirmation available.
Show »
Length:523
Mass (Da):58,913
Checksum:i62ED4E8FACA8020D
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JSN9C9JSN9_HUMAN
Biotinidase
BTD
251Annotation score:
A0A2R8Y5J9A0A2R8Y5J9_HUMAN
Biotinidase, isoform CRA_c
BTD hCG_27648
159Annotation score:
F8WCU5F8WCU5_HUMAN
Biotinidase
BTD
179Annotation score:
C9J387C9J387_HUMAN
Biotinidase
BTD
58Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti379H → Y in BAH13565 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005113128F → V in BTD deficiency. 1 PublicationCorresponds to variant dbSNP:rs397514355EnsemblClinVar.1
Natural variantiVAR_005114171A → T in BTD deficiency. 2 PublicationsCorresponds to variant dbSNP:rs13073139EnsemblClinVar.1
Natural variantiVAR_005115228D → Y in BTD deficiency. 1 PublicationCorresponds to variant dbSNP:rs397514380EnsemblClinVar.1
Natural variantiVAR_005116323H → R in BTD deficiency; partial. 1 PublicationCorresponds to variant dbSNP:rs397507176EnsemblClinVar.1
Natural variantiVAR_056238391P → S. Corresponds to variant dbSNP:rs35034250EnsemblClinVar.1
Natural variantiVAR_005117444D → H in BTD deficiency; profound and partial; 52% decrease in activity. 2 PublicationsCorresponds to variant dbSNP:rs13078881Ensembl.1
Natural variantiVAR_005118451G → D in BTD deficiency; partial. 1 PublicationCorresponds to variant dbSNP:rs397514419EnsemblClinVar.1
Natural variantiVAR_005119456Q → H in BTD deficiency. 1 PublicationCorresponds to variant dbSNP:rs80338685EnsemblClinVar.1
Natural variantiVAR_005120532T → M in BTD deficiency. 1 PublicationCorresponds to variant dbSNP:rs104893688EnsemblClinVar.1
Natural variantiVAR_005121538R → C in BTD deficiency. 2 PublicationsCorresponds to variant dbSNP:rs80338686EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0559211 – 20Missing in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0549251 – 14MAHAH…RRAKS → MARKETQLIIKMNHLA in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_0549261 – 13MAHAH…GRRAK → MPEGGGTSRRLLPMQ in isoform 3. 1 PublicationAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03274 mRNA Translation: AAC04318.1
AF018631, AF018630 Genomic DNA Translation: AAC21679.1
AK294301 mRNA Translation: BAG57582.1
AK297033 mRNA Translation: BAG59561.1
AK301838 mRNA Translation: BAH13565.1
AK313252 mRNA Translation: BAG36062.1
AC027129 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64254.1
BC012099 mRNA Translation: AAH12099.1
CCDSiCCDS2628.1 [P43251-1]
CCDS63563.1 [P43251-3]
CCDS63564.1 [P43251-2]
CCDS63565.1 [P43251-4]
PIRiA54362
RefSeqiNP_000051.1, NM_000060.4 [P43251-1]
NP_001268652.1, NM_001281723.2 [P43251-3]
NP_001268653.1, NM_001281724.2 [P43251-2]
NP_001268654.1, NM_001281725.2 [P43251-4]
NP_001310511.1, NM_001323582.1 [P43251-4]
XP_011532343.1, XM_011534041.2 [P43251-4]
XP_016862577.1, XM_017007088.1 [P43251-4]
UniGeneiHs.444197
Hs.517830

Genome annotation databases

EnsembliENST00000303498; ENSP00000306477; ENSG00000169814 [P43251-4]
ENST00000383778; ENSP00000373288; ENSG00000169814 [P43251-4]
ENST00000427382; ENSP00000397113; ENSG00000169814 [P43251-4]
ENST00000437172; ENSP00000400995; ENSG00000169814 [P43251-2]
ENST00000449107; ENSP00000388212; ENSG00000169814 [P43251-3]
ENST00000643237; ENSP00000495254; ENSG00000169814 [P43251-1]
ENST00000646371; ENSP00000495866; ENSG00000169814 [P43251-4]
GeneIDi686
KEGGihsa:686
UCSCiuc003cah.5 human [P43251-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03274 mRNA Translation: AAC04318.1
AF018631, AF018630 Genomic DNA Translation: AAC21679.1
AK294301 mRNA Translation: BAG57582.1
AK297033 mRNA Translation: BAG59561.1
AK301838 mRNA Translation: BAH13565.1
AK313252 mRNA Translation: BAG36062.1
AC027129 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64254.1
BC012099 mRNA Translation: AAH12099.1
CCDSiCCDS2628.1 [P43251-1]
CCDS63563.1 [P43251-3]
CCDS63564.1 [P43251-2]
CCDS63565.1 [P43251-4]
PIRiA54362
RefSeqiNP_000051.1, NM_000060.4 [P43251-1]
NP_001268652.1, NM_001281723.2 [P43251-3]
NP_001268653.1, NM_001281724.2 [P43251-2]
NP_001268654.1, NM_001281725.2 [P43251-4]
NP_001310511.1, NM_001323582.1 [P43251-4]
XP_011532343.1, XM_011534041.2 [P43251-4]
XP_016862577.1, XM_017007088.1 [P43251-4]
UniGeneiHs.444197
Hs.517830

3D structure databases

ProteinModelPortaliP43251
SMRiP43251
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107151, 20 interactors
IntActiP43251, 5 interactors
STRINGi9606.ENSP00000306477

PTM databases

GlyConnecti1043
iPTMnetiP43251
PhosphoSitePlusiP43251

Polymorphism and mutation databases

BioMutaiBTD
DMDMi226693503

Proteomic databases

EPDiP43251
MaxQBiP43251
PaxDbiP43251
PeptideAtlasiP43251
PRIDEiP43251
ProteomicsDBi55605

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303498; ENSP00000306477; ENSG00000169814 [P43251-4]
ENST00000383778; ENSP00000373288; ENSG00000169814 [P43251-4]
ENST00000427382; ENSP00000397113; ENSG00000169814 [P43251-4]
ENST00000437172; ENSP00000400995; ENSG00000169814 [P43251-2]
ENST00000449107; ENSP00000388212; ENSG00000169814 [P43251-3]
ENST00000643237; ENSP00000495254; ENSG00000169814 [P43251-1]
ENST00000646371; ENSP00000495866; ENSG00000169814 [P43251-4]
GeneIDi686
KEGGihsa:686
UCSCiuc003cah.5 human [P43251-1]

Organism-specific databases

CTDi686
DisGeNETi686
EuPathDBiHostDB:ENSG00000169814.12
GeneCardsiBTD
GeneReviewsiBTD
HGNCiHGNC:1122 BTD
HPAiHPA052275
MalaCardsiBTD
MIMi253260 phenotype
609019 gene
neXtProtiNX_P43251
OpenTargetsiENSG00000169814
Orphaneti79241 Biotinidase deficiency
PharmGKBiPA25443
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0806 Eukaryota
COG0388 LUCA
GeneTreeiENSGT00390000013823
HOGENOMiHOG000007627
HOVERGENiHBG003996
InParanoidiP43251
KOiK01435
OMAiEYYVAAV
OrthoDBiEOG091G04QD
PhylomeDBiP43251
TreeFamiTF323645

Enzyme and pathway databases

BRENDAi3.5.1.12 2681
ReactomeiR-HSA-196780 Biotin transport and metabolism
R-HSA-3371598 Defective BTD causes biotidinase deficiency
SABIO-RKiP43251

Miscellaneous databases

GenomeRNAii686
PROiPR:P43251
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169814 Expressed in 200 organ(s), highest expression level in liver
CleanExiHS_BTD
ExpressionAtlasiP43251 baseline and differential
GenevisibleiP43251 HS

Family and domain databases

CDDicd07567 biotinidase_like, 1 hit
Gene3Di3.60.110.10, 1 hit
InterProiView protein in InterPro
IPR012101 Biotinidase-like_euk
IPR003010 C-N_Hydrolase
IPR036526 C-N_Hydrolase_sf
PfamiView protein in Pfam
PF00795 CN_hydrolase, 1 hit
PIRSFiPIRSF011861 Biotinidase, 1 hit
SUPFAMiSSF56317 SSF56317, 1 hit
PROSITEiView protein in PROSITE
PS50263 CN_HYDROLASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBTD_HUMAN
AccessioniPrimary (citable) accession number: P43251
Secondary accession number(s): A6NHF2
, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, Q96EM9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: April 14, 2009
Last modified: October 10, 2018
This is version 162 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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