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Protein

Biotinidase

Gene

BTD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei112Proton acceptorPROSITE-ProRule annotation1
Active sitei212Proton donorPROSITE-ProRule annotation1
Active sitei245NucleophilePROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.5.1.12 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196780 Biotin transport and metabolism
R-HSA-3371598 Defective BTD causes biotidinase deficiency

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P43251

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Biotinidase (EC:3.5.1.12)
Short name:
Biotinase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BTD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000169814.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1122 BTD

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609019 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P43251

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
686

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
BTD

MalaCards human disease database

More...
MalaCardsi
BTD
MIMi253260 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000169814

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79241 Biotinidase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25443

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BTD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
226693503

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 41Add BLAST41
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001970742 – 543BiotinidaseAdd BLAST502

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
P43251

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P43251

MaxQB - The MaxQuant DataBase

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MaxQBi
P43251

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P43251

PeptideAtlas

More...
PeptideAtlasi
P43251

PRoteomics IDEntifications database

More...
PRIDEi
P43251

ProteomicsDB human proteome resource

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ProteomicsDBi
55605

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1043

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P43251

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P43251

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000169814 Expressed in 200 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

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CleanExi
HS_BTD

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P43251 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P43251 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA052275

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107151, 20 interactors

Protein interaction database and analysis system

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IntActi
P43251, 5 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000306477

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P43251

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini72 – 351CN hydrolasePROSITE-ProRule annotationAdd BLAST280

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0806 Eukaryota
COG0388 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013823

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007627

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG003996

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P43251

KEGG Orthology (KO)

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KOi
K01435

Identification of Orthologs from Complete Genome Data

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OMAi
LVRWNPC

Database of Orthologous Groups

More...
OrthoDBi
1276751at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P43251

TreeFam database of animal gene trees

More...
TreeFami
TF323645

Family and domain databases

Conserved Domains Database

More...
CDDi
cd07567 biotinidase_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.60.110.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR012101 Biotinidase-like_euk
IPR040154 Biotinidase/VNN
IPR003010 C-N_Hydrolase
IPR036526 C-N_Hydrolase_sf

The PANTHER Classification System

More...
PANTHERi
PTHR10609 PTHR10609, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00795 CN_hydrolase, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF011861 Biotinidase, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56317 SSF56317, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50263 CN_HYDROLASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5J9A0A2R8Y5J9_HUMAN
Biotinidase, isoform CRA_c
BTD hCG_27648
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCU5F8WCU5_HUMAN
Biotinidase
BTD
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J387C9J387_HUMAN
Biotinidase
BTD
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS2628.1 [P43251-1]
CCDS63563.1 [P43251-3]
CCDS63564.1 [P43251-2]
CCDS63565.1 [P43251-4]

Protein sequence database of the Protein Information Resource

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PIRi
A54362

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.444197
Hs.517830

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000303498; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
686

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:686

UCSC genome browser

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UCSCi
uc003cah.5 human [P43251-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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
jPOSTiP43251
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

Comparative Toxicogenomics Database

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CTDi
686
DisGeNETi686
EuPathDBiHostDB:ENSG00000169814.12

GeneCards: human genes, protein and diseases

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GeneCardsi
BTD
GeneReviewsiBTD
HGNCiHGNC:1122 BTD
HPAiHPA052275
MalaCardsiBTD
MIMi253260 phenotype
609019 gene
neXtProtiNX_P43251
OpenTargetsiENSG00000169814
Orphaneti79241 Biotinidase deficiency
PharmGKBiPA25443

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0806 Eukaryota
COG0388 LUCA
GeneTreeiENSGT00390000013823
HOGENOMiHOG000007627
HOVERGENiHBG003996
InParanoidiP43251
KOiK01435
OMAiLVRWNPC
OrthoDBi1276751at2759
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

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
686

Protein Ontology

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PROi
PR:P43251

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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
IPR040154 Biotinidase/VNN
IPR003010 C-N_Hydrolase
IPR036526 C-N_Hydrolase_sf
PANTHERiPTHR10609 PTHR10609, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBTD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P43251
Secondary accession number(s): A6NHF2
, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, Q96EM9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: April 14, 2009
Last modified: January 16, 2019
This is version 165 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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