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 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: biotinidase, eukaryotic type
Gene Tree: Btd

Human homologs

Human Homolog		BTD, biotinidase
NCBI Gene ID		686
neXtProt AC		NX_P43251
Human Chr (Location)		3p25; chr3:15643255-15687325 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(30) : Targeted(3) Gene trapped(27)
 

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 Using Mouse Btd (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	biotin metabolic process, nitrogen compound metabolic process
Component	apical part of cell, extracellular region, ...
Function	biotinidase activity, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (133)    Tissues (121)    Images (2)
Theiler Stages: 17, 20, 22, 25, 28

Assay Type	Results
Immunohistochemistry	39
RNA in situ	94

cDNA source data(52)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Btd

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024614	VEGA Gene Model | MGI Sequence Detail	27552	C57BL/6J
transcript	OTTMUST00000060504	VEGA | MGI Sequence Detail	2324	Not Applicable
polypeptide	OTTMUSP00000029516	VEGA | MGI Sequence Detail	529	Not Applicable

All sequences(37) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(119 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:168391 Pindolia K, et al., Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Mol Genet Metab. 2011 Feb;102(2):161-9
All references(34)