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Aliases for BTD Gene

Aliases for BTD Gene

  • Biotinidase 2 3
  • EC 3.5.1.12 4 63
  • Biotinase 3 4
  • EC 3.5.1 63

External Ids for BTD Gene

Previous GeneCards Identifiers for BTD Gene

  • GC03P015572
  • GC03P015619
  • GC03P015620

Summaries for BTD Gene

Entrez Gene Summary for BTD Gene

  • 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]

GeneCards Summary for BTD Gene

BTD (Biotinidase) is a Protein Coding gene. Diseases associated with BTD include biotinidase deficiency and biotin deficiency. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include biotin carboxylase activity and biotinidase activity. An important paralog of this gene is VNN2.

UniProtKB/Swiss-Prot for BTD Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTD Gene

Genomics for BTD Gene

Regulatory Elements for BTD Gene

Genomic Location for BTD Gene

Start:
15,601,341 bp from pter
End:
15,647,640 bp from pter
Size:
46,300 bases
Orientation:
Plus strand

Genomic View for BTD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BTD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTD Gene

Proteins for BTD Gene

  • Protein details for BTD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43251-BTD_HUMAN
    Recommended name:
    Biotinidase
    Protein Accession:
    P43251
    Secondary Accessions:
    • A6NHF2
    • B2R865
    • B4DFX1
    • B4DLJ9
    • B7Z7C9
    • F8W1Q3
    • Q96EM9

    Protein attributes for BTD Gene

    Size:
    543 amino acids
    Molecular mass:
    61133 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BTD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTD Gene

Proteomics data for BTD Gene at MOPED

Post-translational modifications for BTD Gene

  • Glycosylation at Asn119, Asn150, Asn203, Asn349, Asn402, and Asn489
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for BTD Gene

Graphical View of Domain Structure for InterPro Entry

P43251

UniProtKB/Swiss-Prot:

BTD_HUMAN :
  • P43251
Domain:
  • Contains 1 CN hydrolase domain.
Family:
  • Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family.
genes like me logo Genes that share domains with BTD: view

No data available for Gene Families for BTD Gene

Function for BTD Gene

Molecular function for BTD Gene

GENATLAS Biochemistry:
biotinidase,76.5kDa,microsomal,catalyzing the recycling of biotin
UniProtKB/Swiss-Prot CatalyticActivity:
Biotin amide + H(2)O = biotin + NH(3)
UniProtKB/Swiss-Prot Function:
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation

Enzyme Numbers (IUBMB) for BTD Gene

Gene Ontology (GO) - Molecular Function for BTD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004075 biotin carboxylase activity TAS 7509806
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides --
GO:0047708 biotinidase activity IEA --
genes like me logo Genes that share ontologies with BTD: view
genes like me logo Genes that share phenotypes with BTD: view

Animal Models for BTD Gene

MGI Knock Outs for BTD:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for BTD Gene

Localization for BTD Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTD Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BTD Gene COMPARTMENTS Subcellular localization image for BTD gene
Compartment Confidence
extracellular 5
nucleus 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BTD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005730 nucleolus IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with BTD: view

Pathways for BTD Gene

SuperPathways for BTD Gene

genes like me logo Genes that share pathways with BTD: view

Interacting Proteins for BTD Gene

Gene Ontology (GO) - Biological Process for BTD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006768 biotin metabolic process TAS --
GO:0006807 nitrogen compound metabolic process --
GO:0007417 central nervous system development TAS 7550325
genes like me logo Genes that share ontologies with BTD: view

Compounds for BTD Gene

(6) HMDB Compounds for BTD Gene

Compound Synonyms Cas Number PubMed IDs
Ammonia
  • NH3
7664-41-7
Biocytin
  • Biotinyl-L-lysine
576-19-2
Biotin
  • (+)-Biotin
58-85-5
Biotin amide
  • biotin amide
6929-42-6
L-Lysine
  • (+)-S-Lysine
56-87-1

(26) Novoseek inferred chemical compound relationships for BTD Gene

Compound -log(P) Hits PubMed IDs
biotin 93.4 153
biocytin 85.9 31
biotinamide 74.7 4
lipoyllysine 69.9 2
3-methylcrotonyl-coa 68.4 1
genes like me logo Genes that share compounds with BTD: view

Transcripts for BTD Gene

Unigene Clusters for BTD Gene

Biotinidase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BTD

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTD Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c
SP1: - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: -
SP7:

Relevant External Links for BTD Gene

GeneLoc Exon Structure for
BTD
ECgene alternative splicing isoforms for
BTD

Expression for BTD Gene

mRNA expression in normal human tissues for BTD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for BTD Gene

This gene is overexpressed in Serum (27.4), Vitreous humor (13.1), and Plasma (11.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BTD Gene

SOURCE GeneReport for Unigene cluster for BTD Gene Hs.517830

genes like me logo Genes that share expressions with BTD: view

Expression partners for BTD Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BTD Gene

Orthologs for BTD Gene

This gene was present in the common ancestor of animals.

Orthologs for BTD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BTD 35
  • 82.28 (n)
  • 78.39 (a)
BTD 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTD 35
  • 87.89 (n)
  • 84.77 (a)
BTD 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btd 35
  • 83.46 (n)
  • 84.79 (a)
Btd 16
Btd 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BTD 35
  • 99.39 (n)
  • 99.27 (a)
BTD 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btd 35
  • 81.28 (n)
  • 80.38 (a)
oppossum
(Monodelphis domestica)
Mammalia BTD 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves BTD 35
  • 65.02 (n)
  • 63.37 (a)
BTD 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTD 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btd 35
  • 63.13 (n)
  • 59.88 (a)
zebrafish
(Danio rerio)
Actinopterygii btd 35
  • 57.29 (n)
  • 51.25 (a)
btd 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3599 37
  • 29 (a)
vanin-like 37
  • 28 (a)
vanin-like 35
  • 46.35 (n)
  • 34.27 (a)
Btd 36
  • 25 (a)
ManyToMany
CG32750 36
  • 24 (a)
ManyToMany
CG32751 36
  • 25 (a)
ManyToMany
vanin-like 36
  • 26 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010733 35
  • 45.89 (n)
  • 33.43 (a)
Species with no ortholog for BTD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BTD Gene

ENSEMBL:
Gene Tree for BTD (if available)
TreeFam:
Gene Tree for BTD (if available)

Paralogs for BTD Gene

Paralogs for BTD Gene

Selected SIMAP similar genes for BTD Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with BTD: view

Variants for BTD Gene

Sequence variations from dbSNP and Humsavar for BTD Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs9755 -- 15,642,207(-) TGAAC(A/G)TGTGG intron-variant, utr-variant-3-prime
rs741747 -- 15,636,047(-) CACTT(A/G)CCTCG intron-variant
rs741748 -- 15,636,360(-) TGGCA(C/T)TGACC intron-variant
rs760066 -- 15,636,038(+) TAAGA(A/G)TCACG intron-variant
rs924814 -- 15,608,043(-) TATTA(C/T)TGATA intron-variant

Relevant External Links for BTD Gene

HapMap Linkage Disequilibrium report
BTD
Human Gene Mutation Database (HGMD)
BTD
Locus Specific Mutation Databases (LSDB)
BTD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BTD Gene

Disorders for BTD Gene

(1) OMIM Diseases for BTD Gene (609019)

UniProtKB/Swiss-Prot

BTD_HUMAN
  • Biotinidase deficiency (BTD deficiency) [MIM:253260]: A 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. {ECO:0000269 PubMed:10206677, ECO:0000269 PubMed:9099842, ECO:0000269 PubMed:9654207}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(55) Novoseek inferred disease relationships for BTD Gene

Disease -log(P) Hits PubMed IDs
biotinidase deficiency 99.6 330
multiple carboxylase deficiency 94.8 9
holocarboxylase synthetase deficiency 88.2 4
maple syrup urine disease 78.9 10
phenylketonurias 78.7 14

Genatlas disease for BTD Gene

multiple carboxylase deficiency,late onset with feeding difficulties,hypotonia,seizures,lethargy, skin rash and metabolic acidosis,organic aciduria,biotinidase deficiency

Relevant External Links for BTD

GeneTests
BTD
GeneReviews
BTD
Genetic Association Database (GAD)
BTD
Human Genome Epidemiology (HuGE) Navigator
BTD
genes like me logo Genes that share disorders with BTD: view

Publications for BTD Gene

  1. Human serum biotinidase. cDNA cloning, sequence, and characterization. (PMID: 7509806) Cole H. … Wolf B. (J. Biol. Chem. 1994) 3 4 23
  2. Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. (PMID: 9099842) Pomponio R.J. … Wolf B. (Hum. Genet. 1997) 3 4 23
  3. Structure of the human biotinidase gene. (PMID: 9530634) Knight H.C. … Wolf B. (Mamm. Genome 1998) 3 4 23
  4. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. (PMID: 9654207) Swango K.L. … Wolf B. (Hum. Genet. 1998) 3 4 23
  5. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. (PMID: 12618081) Dobrowolski S.F. … Naylor E.W. (Mol. Genet. Metab. 2003) 3 23 48

Products for BTD Gene

Sources for BTD Gene

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