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Btd
Gene Detail
Symbol

Name
ID
Btd
biotinidase
MGI:1347001
Feature Type
protein coding gene
Genetic Map
Chromosome 14
19.36 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr14:31641028-31668579 bp, + strand
From VEGA annotation of GRCm38

  27552 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37255  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: BTD
Protein SuperFamily: biotinidase, eukaryotic type
Gene Tree: Btd

Human
homologs
BTD, biotinidase
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 686
neXtProt AC: NX_P43251

Human Chr (Location): 3p25; chr3:15601352-15647642 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human BTD

Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Gene trapped(27) Targeted(3)
Incidental mutations (data from APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit behavioral/neurological defects, weakness, bone loss, weight loss, and alopecia when fed a biotin-deprived diet.
 
Human Diseases Modeled in Mice Using Btd (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Btd interacts with 83 markers (Mir17, Mir18, Mir20a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process biotin metabolic process, nitrogen compound metabolic process
Component apical part of cell, extracellular exosome, ...
Function biotinidase activity, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (133)    Tissues (125)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 39
RNA in situ 94
cDNA source data(52)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase btd    NEW 
Molecular
reagents
All nucleic(53) cDNA(53)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000024614 (Evidence)
Ensembl Gene Model ENSMUSG00000021900 (Evidence)
Entrez Gene 26363 (Evidence)
UniGene 282679
DFCI TC1578296
DoTS DT.490591, DT.91365836
NIA Mouse Gene Index U015467
EC 3.5.1.12
Consensus CDS Project CCDS36857.1
International Mouse Phenotyping Consortium Status Btd
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024614 VEGA Gene Model | MGI Sequence Detail 27552 C57BL/6J ±  kb
transcript OTTMUST00000060504 VEGA | MGI Sequence Detail 2324 Not Applicable 
polypeptide OTTMUSP00000029516 VEGA | MGI Sequence Detail 529 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(4) UniProt(1)
Polymorphisms
SNPs within 2kb(129 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR012101 Biotinidase, eukaryotic
InterPro IPR003010 Carbon-nitrogen hydrolase
Protein Ontology PR:000004838 biotinidase
References
(Earliest) J:57574 Granjeaud S, et al., An ESTs description of the new Vanin gene family conserved from fly to human. Immunogenetics. 1999 Oct;49(11-12):964-72
(Latest) J:211999 Pindolia K, et al., Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. Mol Genet Metab. 2014 May;112(1):49-56
All references(36)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory