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 varian... See more...

Aliases for BTD Gene

Aliases for BTD Gene

  • Biotinidase 2 3 4 5
  • EC 3.5.1.12 4 52
  • Biotinase 3 4
  • EC 3.5.1 52

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 Cryptorchidism, Unilateral Or Bilateral. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. 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 Summary 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 , Rfam classification 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
GH03J015600 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.4 360 3 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 HACL1 BTD ENSG00000270409 CAPN7 NR2C2 CCDC174 SH3BP5-AS1 MRPS25 COLQ
GH03J015623 Enhancer 0.6 Ensembl ENCODE 16.8 +23.2 23246 2 XRCC3 FOXA1 NCOA3 MITF CBFA2T3 CCDC174 BTD SH3BP5-AS1 HACL1 NR2C2 EAF1 COLQ lnc-HACL1-2 piR-36575-043
GH03J015792 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.4 +196.3 196306 9.6 ZBTB40 CTCF ZSCAN5C SIN3A TCF12 GTF2E2 JUND FOS EP300 POLR2A lnc-HACL1-9 ANKRD28 IMPDH1P8 EAF1 EAF1-AS1 METTL6 BTD DPH3 COLQ SH3BP5
GH03J015629 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5 +33.1 33146 9.5 ZNF217 CTCF TCF12 USF1 GTF2E2 JUND FOS EP300 ZIC2 REST EAF1 CAPN7 COL6A4P1 COLQ HACL1 BTD SH3BP5 ANKRD28 lnc-HACL1-2 piR-50437-456
GH03J015644 Enhancer 1.1 ENCODE dbSUPER 6.6 +45.9 45888 5.7 TCF12 SP1 JUND FOS EP300 ZIC2 REST RELA MEF2C TRIM22 CAPN7 COL6A4P1 EAF1 COLQ ANKRD28 BTD HACL1 IMPDH1P8 piR-50437-456 lnc-HACL1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTD on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTD

Top Transcription factor binding sites by QIAGEN in the BTD gene promoter:
  • GATA-1
  • GR
  • GR-alpha
  • GR-beta
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Sp1

Genomic Locations for BTD Gene

Genomic Locations for BTD Gene
chr3:15,601,341-15,722,311
(GRCh38/hg38)
Size:
120,971 bases
Orientation:
Plus strand
chr3:15,642,848-15,687,329
(GRCh37/hg19)
Size:
44,482 bases
Orientation:
Plus strand

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

Domains & Families for BTD Gene

Gene Families for BTD Gene

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

Protein Domains for BTD Gene

Blocks:
  • Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BTD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59679, highly similar to Biotinidase (EC 3.5.1.12) (A6NHF2_HUMAN)
  • cDNA FLJ51892, highly similar to Biotinidase (EC 3.5.1.12) (B4DLJ9_HUMAN)
  • Biotinidase (BTD_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=biotin amide + H2O = biotin + NH4(+); Xref=Rhea:RHEA:13081, ChEBI:CHEBI:15377, ChEBI:CHEBI:16615, ChEBI:CHEBI:28938, ChEBI:CHEBI:57586; EC=3.5.1.12;.
GENATLAS Biochemistry:
biotinidase,76.5kDa,microsomal,catalyzing the recycling of biotin

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: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:
  • Btd Btd<tm1Bwol>

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 4
cytoskeleton 3
lysosome 2
plasma membrane 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 0

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 HDA,IEA 16502470
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome HDA 23533145
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 TAS,IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra 59
Ammonia Approved Pharma 0
Water Approved Pharma 0
D-Lysine Approved, Experimental Nutra Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Biocytin
  • (3AS-(3aalpha,4beta,6aalpha))-N(6)-(5-(hexahydro-2-oxo-1H-thieno(3,4-D)imidazol-4-yl)-1-oxopentyl)-L-lysine
  • Biotinyl-L-lysine
  • epsilon-N-Biotinyl-L-lysine
  • epsilon-N-Biotinyllysine
  • N(epsilon)-Biotinyl-L-lysine
576-19-2
Biotin amide
6929-42-6
genes like me logo Genes that share compounds with BTD: view

Transcripts for BTD Gene

mRNA/cDNA for BTD Gene

8 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
1 RNACentral transcripts :

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

Expression for BTD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for BTD Gene



Protein tissue co-expression partners for BTD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BTD 31 30
  • 87.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Btd 17 31 30
  • 83.46 (n)
cow
(Bos Taurus)
Mammalia BTD 31 30
  • 82.28 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btd 30
  • 81.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 71 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia BTD 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTD 31 30
  • 65.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTD 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btd 30
  • 63.13 (n)
zebrafish
(Danio rerio)
Actinopterygii btd 31 30
  • 57.29 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vanin-like 31 32 30
  • 46.35 (n)
ManyToMany
CG3599 32
  • 29 (a)
Btd 31
  • 25 (a)
ManyToMany
CG32751 31
  • 25 (a)
ManyToMany
CG32750 31
  • 24 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010733 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BTD: view image

Paralogs for BTD Gene

Paralogs for BTD Gene

(3) SIMAP similar genes for BTD Gene using alignment to 8 proteins:

  • BTD_HUMAN
  • A6NHF2_HUMAN
  • B4DLJ9_HUMAN
  • C9J387_HUMAN
  • C9JSN9_HUMAN
  • F8W1Q3_HUMAN
  • F8WCU5_HUMAN
  • L0R6D3_HUMAN
genes like me logo Genes that share paralogs with BTD: view

Variants for BTD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTD Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
800903 Likely Pathogenic: Biotinidase deficiency 15,645,484(+) A/G MISSENSE_VARIANT,INTRON_VARIANT
801941 Uncertain Significance: Biotinidase deficiency; not provided 15,635,477(+) G/T MISSENSE_VARIANT
801942 Pathogenic: Biotinidase deficiency 15,635,481(+) CTG/C FRAMESHIFT_VARIANT
801943 Pathogenic: Biotinidase deficiency 15,635,641(+) CA/C FRAMESHIFT_VARIANT
801944 Likely Pathogenic: Biotinidase deficiency 15,641,920(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BTD Gene

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

(43) MalaCards diseases for BTD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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 23 41 54
  2. 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 23 54
  3. 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 23 54
  4. 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 23 54
  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 23 54

Products for BTD Gene

  • Signalway ELISA kits for BTD
  • Signalway Proteins for BTD

Sources for BTD Gene