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Protein

Biotinidase

Gene

BTD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

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
  • nitrogen compound metabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciZFISH:HS10012-MONOMER.
BRENDAi3.5.1.12. 2681.
ReactomeiR-HSA-196780. Biotin transport and metabolism.
SABIO-RKP43251.

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

HGNCiHGNC:1122. BTD.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
  • mitochondrial matrix Source: Reactome
Complete GO annotation...

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 rs397514355dbSNPEnsembl.1
Natural variantiVAR_005114171A → T in BTD deficiency. 2 PublicationsCorresponds to variant rs13073139dbSNPEnsembl.1
Natural variantiVAR_005115228D → Y in BTD deficiency. 1 PublicationCorresponds to variant rs397514380dbSNPEnsembl.1
Natural variantiVAR_005116323H → R in BTD deficiency; partial. 1 PublicationCorresponds to variant rs397507176dbSNPEnsembl.1
Natural variantiVAR_005117444D → H in BTD deficiency; profound and partial; 52% decrease in activity. 2 PublicationsCorresponds to variant rs13078881dbSNPEnsembl.1
Natural variantiVAR_005118451G → D in BTD deficiency; partial. 1 PublicationCorresponds to variant rs397514419dbSNPEnsembl.1
Natural variantiVAR_005119456Q → H in BTD deficiency. 1 PublicationCorresponds to variant rs80338685dbSNPEnsembl.1
Natural variantiVAR_005120532T → M in BTD deficiency. 1 PublicationCorresponds to variant rs104893688dbSNPEnsembl.1
Natural variantiVAR_005121538R → C in BTD deficiency. 2 PublicationsCorresponds to variant rs80338686dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi686.
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...)2 Publications1
Glycosylationi150N-linked (GlcNAc...) (complex)3 Publications1
Glycosylationi203N-linked (GlcNAc...)1 Publication1
Glycosylationi349N-linked (GlcNAc...)2 Publications1
Glycosylationi402N-linked (GlcNAc...)2 Publications1
Glycosylationi489N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiP43251.
MaxQBiP43251.
PaxDbiP43251.
PeptideAtlasiP43251.
PRIDEiP43251.

PTM databases

iPTMnetiP43251.
PhosphoSitePlusiP43251.

Expressioni

Gene expression databases

BgeeiENSG00000169814.
CleanExiHS_BTD.
ExpressionAtlasiP43251. baseline and differential.
GenevisibleiP43251. HS.

Organism-specific databases

HPAiHPA052275.

Interactioni

Protein-protein interaction databases

BioGridi107151. 13 interactors.
IntActiP43251. 5 interactors.
STRINGi9606.ENSP00000306477.

Structurei

3D structure databases

ProteinModelPortaliP43251.
SMRiP43251.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 363CN hydrolasePROSITE-ProRule annotationAdd BLAST307

Sequence similaritiesi

Contains 1 CN hydrolase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

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

Family and domain databases

Gene3Di3.60.110.10. 1 hit.
InterProiIPR012101. Biotinidase_euk.
IPR003010. C-N_Hydrolase.
[Graphical view]
PANTHERiPTHR10609. PTHR10609. 1 hit.
PfamiPF00795. CN_hydrolase. 1 hit.
[Graphical view]
PIRSFiPIRSF011861. Biotinidase. 1 hit.
SUPFAMiSSF56317. SSF56317. 1 hit.
PROSITEiPS50263. CN_HYDROLASE. 1 hit.
[Graphical view]

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

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

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 rs397514355dbSNPEnsembl.1
Natural variantiVAR_005114171A → T in BTD deficiency. 2 PublicationsCorresponds to variant rs13073139dbSNPEnsembl.1
Natural variantiVAR_005115228D → Y in BTD deficiency. 1 PublicationCorresponds to variant rs397514380dbSNPEnsembl.1
Natural variantiVAR_005116323H → R in BTD deficiency; partial. 1 PublicationCorresponds to variant rs397507176dbSNPEnsembl.1
Natural variantiVAR_056238391P → S.Corresponds to variant rs35034250dbSNPEnsembl.1
Natural variantiVAR_005117444D → H in BTD deficiency; profound and partial; 52% decrease in activity. 2 PublicationsCorresponds to variant rs13078881dbSNPEnsembl.1
Natural variantiVAR_005118451G → D in BTD deficiency; partial. 1 PublicationCorresponds to variant rs397514419dbSNPEnsembl.1
Natural variantiVAR_005119456Q → H in BTD deficiency. 1 PublicationCorresponds to variant rs80338685dbSNPEnsembl.1
Natural variantiVAR_005120532T → M in BTD deficiency. 1 PublicationCorresponds to variant rs104893688dbSNPEnsembl.1
Natural variantiVAR_005121538R → C in BTD deficiency. 2 PublicationsCorresponds to variant rs80338686dbSNPEnsembl.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. [P43251-1]
ENST00000383778; ENSP00000373288; ENSG00000169814. [P43251-4]
ENST00000437172; ENSP00000400995; ENSG00000169814. [P43251-2]
ENST00000449107; ENSP00000388212; ENSG00000169814. [P43251-3]
GeneIDi686.
KEGGihsa:686.
UCSCiuc003cah.5. human. [P43251-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. 13 interactors.
IntActiP43251. 5 interactors.
STRINGi9606.ENSP00000306477.

PTM databases

iPTMnetiP43251.
PhosphoSitePlusiP43251.

Polymorphism and mutation databases

BioMutaiBTD.
DMDMi226693503.

Proteomic databases

EPDiP43251.
MaxQBiP43251.
PaxDbiP43251.
PeptideAtlasiP43251.
PRIDEiP43251.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi686.
DisGeNETi686.
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

BioCyciZFISH:HS10012-MONOMER.
BRENDAi3.5.1.12. 2681.
ReactomeiR-HSA-196780. Biotin transport and metabolism.
SABIO-RKP43251.

Miscellaneous databases

GenomeRNAii686.
PROiP43251.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169814.
CleanExiHS_BTD.
ExpressionAtlasiP43251. baseline and differential.
GenevisibleiP43251. HS.

Family and domain databases

Gene3Di3.60.110.10. 1 hit.
InterProiIPR012101. Biotinidase_euk.
IPR003010. C-N_Hydrolase.
[Graphical view]
PANTHERiPTHR10609. PTHR10609. 1 hit.
PfamiPF00795. CN_hydrolase. 1 hit.
[Graphical view]
PIRSFiPIRSF011861. Biotinidase. 1 hit.
SUPFAMiSSF56317. SSF56317. 1 hit.
PROSITEiPS50263. CN_HYDROLASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBTD_HUMAN
AccessioniPrimary (citable) accession number: P43251
Secondary accession number(s): A6NHF2
, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, Q96EM9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: April 14, 2009
Last modified: November 30, 2016
This is version 150 of the entry and version 2 of the sequence. [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

Caution

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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.