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Btd biotinidase [ Mus musculus (house mouse) ]

Gene ID: 26363, updated on 5-Mar-2024

Summary

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Official Symbol
Btdprovided by MGI
Official Full Name
biotinidaseprovided by MGI
Primary source
MGI:MGI:1347001
See related
Ensembl:ENSMUSG00000021900 AllianceGenome:MGI:1347001
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables biotinidase activity. Acts upstream of or within biotin metabolic process. Located in apical part of cell; nucleolus; and perikaryon. Is expressed in blood vessel; inner ear; nervous system; and urinary system. Used to study biotinidase deficiency. Human ortholog(s) of this gene implicated in biotinidase deficiency. Orthologous to human BTD (biotinidase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 42.3), liver adult (RPKM 36.1) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
14 B; 14 19.36 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (31363014..31390154)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (31641057..31668197)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32345029-32345265 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32369012-32369287 Neighboring gene collagen like tail subunit of asymmetric acetylcholinesterase Neighboring gene STARR-seq mESC enhancer starr_36317 Neighboring gene predicted gene, 57482 Neighboring gene STARR-seq mESC enhancer starr_36319 Neighboring gene STARR-positive B cell enhancer ABC_E11568 Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene STARR-positive B cell enhancer ABC_E7304 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32483369-32483556 Neighboring gene predicted gene, 53840 Neighboring gene ankyrin repeat domain 28 Neighboring gene STARR-positive B cell enhancer ABC_E4102 Neighboring gene STARR-seq mESC enhancer starr_36323 Neighboring gene STARR-seq mESC enhancer starr_36326 Neighboring gene RIKEN cDNA D830044D21 gene Neighboring gene predicted gene, 36164

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. Pindolia K, et al. Mol Genet Metab, 2014 May. PMID 24630269
  2. Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder. Hernández-Vázquez A, et al. Mol Genet Metab, 2013 Nov. PMID 24075304
  3. Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. Pindolia K, et al. Neurobiol Dis, 2012 Sep. PMID 22579707, Free PMC Article
  4. Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. Heller AJ, et al. Hear Res, 2002 Nov. PMID 12372635
  5. Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Pindolia K, et al. Mol Genet Metab, 2011 Feb. PMID 21051254, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation.
    Title: Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder.
  2. This study demonistrated that biotinidase deficiency mice showed demylination and axonal degeneration.
    Title: Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.
  3. results indicate low expression of biotinidase throughout the brain, but increased concentrations within the dorsal cochlear nucleus, ventral cochlear nucleus, and superior olivary complex as well as in the hair cells and spiral ganglion of the cochlea
    Title: Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables biotinidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in biotin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within biotin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in biotin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nitrogen compound metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical part of cell IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space HDA PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perikaryon IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
biotinidase
Names
biotinase
NP_001361146.1
NP_079571.1
XP_036014494.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001374217.1 → NP_001361146.1  biotinidase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC109509
    Conserved Domains (2) summary
    cd07567
    Location:1 → 230
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    pfam19018
    Location:262 → 411
    Vanin_C; Vanin C-terminal domain

  2. NM_025295.4 → NP_079571.1  biotinidase isoform 1 precursor

    See identical proteins and their annotated locations for NP_079571.1

    Status: VALIDATED

    Source sequence(s)
    AK005506, AK135375, BU700769, CJ181966
    Consensus CDS
    CCDS36857.1
    UniProtKB/Swiss-Prot
    Q3UXQ4, Q8CIF4, Q9DAV0
    UniProtKB/TrEMBL
    A0A0R4J131
    Related
    ENSMUSP00000087608.7, ENSMUST00000090147.7
    Conserved Domains (1) summary
    cd07567
    Location:44 → 347
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    31363014..31390154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036158601.1 → XP_036014494.1  biotinidase isoform X1

    Conserved Domains (2) summary
    cd07567
    Location:1 → 230
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
    pfam19018
    Location:262 → 411
    Vanin_C; Vanin C-terminal domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CIF4.2 GenPept UniProtKB/Swiss-Prot:Q8CIF4

Gene LinkOut

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