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Aliases for BTD Gene

Aliases for BTD Gene

  • Biotinidase 2 3 3 5
  • EC 3.5.1.12 4 56
  • Biotinase 3 4
  • EC 3.5.1 56

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 Multiple Carboxylase Deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and biotin carboxylase activity. An important paralog of this gene is VNN1.

UniProtKB/Swiss-Prot for BTD Gene

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

Additional gene information for BTD Gene

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

Genomics for BTD Gene

GeneHancer (GH) Regulatory Elements for BTD Gene

Promoters and enhancers for BTD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I015600 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.3 287 2.5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 HACL1 BTD CCDC174 NR2C2 SH3BP5-AS1 CAPN7 ENSG00000270409 EAF1-AS1 MRPS25 COLQ
GH03I015792 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 +196.3 196306 9.6 HDGF PKNOX1 FOXA2 SMAD1 ARNT SIN3A FEZF1 ZNF2 YY1 POLR2B ANKRD28 IMPDH1P8 EAF1 EAF1-AS1 METTL6 BTD DPH3 COLQ SH3BP5 GC03M015809
GH03I015629 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 5 +33.1 33146 9.5 PKNOX1 CLOCK SMAD1 ARNT NEUROD1 SIN3A FEZF1 IRF4 YY1 ZNF766 EAF1 CAPN7 COL6A4P1 COLQ HACL1 BTD SH3BP5 ANKRD28 PIR61991
GH03I015644 Enhancer 1.3 Ensembl ENCODE dbSUPER 6.6 +45.9 45888 5.7 PKNOX1 SIN3A IRF4 ATF7 FOS RUNX3 DEK JUNB REST MAFF CAPN7 COL6A4P1 EAF1 COLQ ANKRD28 BTD HACL1 IMPDH1P8 PIR61991
GH03I015605 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 +5.6 5597 3.3 ELF3 FOXA2 ZFP64 ARID4B RAD21 RARA ETS1 YY1 SLC30A9 CREM EAF1 CAPN7 COL6A4P1 HACL1 EAF1-AS1 COLQ BTD PIR61991
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTD gene promoter:

Genomic Locations for BTD Gene

Genomic Locations for BTD Gene
chr3:15,601,341-15,647,642
(GRCh38/hg38)
Size:
46,302 bases
Orientation:
Plus strand
chr3:15,642,848-15,687,329
(GRCh37/hg19)

Genomic View for BTD Gene

Genes around BTD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for BTD Gene

P43251:
  • NLYFEAAFD
  • IIVFPEDGIHGFNFTRTSIYPFLD
  • MFLVANLGTK
  • FTCFDILF
  • RYRKHNLYFE
  • SEMMYDNFTLVPVWG
  • LGMTGSGIHTPL

Post-translational modifications for BTD Gene

  • Glycosylation at posLast=119119, posLast=150150, Asn203, Asn349, Asn402, and Asn489
  • Modification sites at PhosphoSitePlus

Domains & Families for BTD Gene

Gene Families for BTD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P43251

UniProtKB/Swiss-Prot:

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

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

Phenotypes From GWAS Catalog for BTD Gene

Gene Ontology (GO) - Molecular Function for BTD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IBA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA --
GO:0047708 biotinidase activity TAS --
genes like me logo Genes that share ontologies with BTD: view
genes like me logo Genes that share phenotypes with BTD: view

Human Phenotype Ontology for BTD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BTD Gene

MGI Knock Outs for BTD:

Clone Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTD gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytoskeleton 3
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 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 IEA,HDA 16502470
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with BTD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTD Gene

Pathways & Interactions for BTD Gene

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

Gene Ontology (GO) - Biological Process for BTD Gene

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

No data available for SIGNOR curated interactions for BTD Gene

Drugs & Compounds for BTD Gene

(17) Drugs for BTD Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra 53
Ammonia Approved Pharma 0
Water Approved Pharma 0
L-Lysine Approved Nutra Full agonist, Agonist 0

(13) Additional Compounds for BTD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Biocytin
  • Biotinyl-L-lysine
  • epsilon-N-Biotinyl-L-lysine
  • H-Lys(biotinyl)-OH
  • N-epsilon-Biotin-L-lysine
  • N6-D-Biotinyl-L-lysine
576-19-2
Biotin amide
  • Biotin amide
6929-42-6
genes like me logo Genes that share compounds with BTD: view

Transcripts for BTD Gene

Unigene Clusters for BTD Gene

Biotinidase:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for BTD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BTD Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BTD Gene



Protein tissue co-expression partners for BTD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTD Gene:

BTD

SOURCE GeneReport for Unigene cluster for BTD Gene:

Hs.517830

Evidence on tissue expression from TISSUES for BTD Gene

  • Nervous system(4.7)
  • Kidney(4.4)
  • Blood(4.3)
  • Liver(4.3)
  • Bone marrow(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BTD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • diaphragm
  • esophagus
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BTD: view

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
chimpanzee
(Pan troglodytes)
Mammalia BTD 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia BTD 33 34
  • 87.89 (n)
mouse
(Mus musculus)
Mammalia Btd 33 16 34
  • 83.46 (n)
cow
(Bos Taurus)
Mammalia BTD 33 34
  • 82.28 (n)
rat
(Rattus norvegicus)
Mammalia Btd 33
  • 81.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia BTD 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTD 33 34
  • 65.02 (n)
lizard
(Anolis carolinensis)
Reptilia BTD 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btd 33
  • 63.13 (n)
zebrafish
(Danio rerio)
Actinopterygii btd 33 34
  • 57.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta vanin-like 35 33 34
  • 46.35 (n)
CG3599 35
  • 29 (a)
Btd 34
  • 25 (a)
ManyToMany
CG32751 34
  • 25 (a)
ManyToMany
CG32750 34
  • 24 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010733 33
  • 45.89 (n)
Species where no ortholog for BTD was found in the sources mined by GeneCards:
  • 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

(3) 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 Variation AA Info Type
rs1011665542 uncertain-significance, Biotinidase deficiency 15,645,545(+) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs104893686 pathogenic, Biotinidase deficiency 15,645,063(+) T/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs104893687 pathogenic, Biotinidase deficiency 15,635,614(+) C/T coding_sequence_variant, missense_variant
rs104893688 pathogenic, Biotinidase deficiency, not provided, Biotinidase deficiency (BTD deficiency) [MIM:253260] 15,645,451(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs104893692 conflicting-interpretations-of-pathogenicity, Biotinidase deficiency 15,645,322(+) A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for BTD Gene

Variant ID Type Subtype PubMed ID
nsv979807 CNV duplication 23825009

Variation tolerance for BTD Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTD Gene

Human Gene Mutation Database (HGMD)
BTD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTD Gene

Disorders for BTD Gene

MalaCards: The human disease database

(16) MalaCards diseases for BTD Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BTD in MalaCards View complete list of genes associated with diseases

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.

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

Additional Disease Information for BTD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BTD: view

Publications for BTD Gene

  1. 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 SF … Naylor EW (Molecular genetics and metabolism 2003) 3 22 44 58
  2. Structure of the human biotinidase gene. (PMID: 9530634) Knight HC … Wolf B (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 3 4 22 58
  3. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. (PMID: 9654207) Swango KL … Wolf B (Human genetics 1998) 3 4 22 58
  4. Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online. (PMID: 10206677) Norrgard KJ … Wolf B (Human mutation 1998) 3 4 22 58
  5. 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 RJ … Wolf B (Human genetics 1997) 3 4 22 58

Products for BTD Gene

Sources for BTD Gene

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