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BTD biotinidase [ Homo sapiens (human) ]

Gene ID: 686, updated on 12-Aug-2018

Summary

Official Symbol
BTDprovided by HGNC
Official Full Name
biotinidaseprovided by HGNC
Primary source
HGNC:HGNC:1122
See related
Ensembl:ENSG00000169814 MIM:609019; Vega:OTTHUMG00000129861
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 6.6), fat (RPKM 5.9) and 25 other tissues See more
Orthologs

Genomic context

See BTD in Genome Data Viewer
Location:
3p25.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (15601352..15653711)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15642864..15689147)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene collagen like tail subunit of asymmetric acetylcholinesterase Neighboring gene uncharacterized LOC105376964 Neighboring gene RNA, 7SL, cytoplasmic 110, pseudogene Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene ankyrin repeat domain 28 Neighboring gene microRNA 3134 Neighboring gene RNA, 7SL, cytoplasmic 4, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biotinidase deficiency
MedGen: C0220754 OMIM: 253260 GeneReviews: Biotinidase Deficiency
Compare labs

NHGRI GWAS Catalog

Description
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Biotin metabolism, organism-specific biosystem (from KEGG)
    Biotin metabolism, organism-specific biosystemBiotin (vitamin H or vitamin B7) is the essential cofactor of biotin-dependent carboxylases, such as pyruvate carboxylase and acetyl-CoA carboxylase. Mammals cannot synthesize biotin, while in bacter...
  • Biotin metabolism, conserved biosystem (from KEGG)
    Biotin metabolism, conserved biosystemBiotin (vitamin H or vitamin B7) is the essential cofactor of biotin-dependent carboxylases, such as pyruvate carboxylase and acetyl-CoA carboxylase. Mammals cannot synthesize biotin, while in bacter...
  • Biotin transport and metabolism, organism-specific biosystem (from REACTOME)
    Biotin transport and metabolism, organism-specific biosystemBiotin (Btn) is an essential cofactor in a variety of carboxylation reactions (Zempleni et al. 2009). Humans cannot synthesize Btn but it is abundant in the human diet and can be taken up from the in...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
    Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
  • Vitamin digestion and absorption, conserved biosystem (from KEGG)
    Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
biotinidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
biotin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
biotin metabolic process TAS
Traceable Author Statement
more info
 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
biotinidase
Names
biotinase
NP_000051.1
NP_001268652.1
NP_001268653.1
NP_001268654.1
NP_001268655.1
NP_001310511.1
XP_011532343.1
XP_016862577.1
XP_024309492.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_008019.1 RefSeqGene

    Range
    4998..50891
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000060.4NP_000051.1  biotinidase isoform 3

    See identical proteins and their annotated locations for NP_000051.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC027129, AK313252, BE814688, BM565546, CA308344
    Consensus CDS
    CCDS2628.1
    UniProtKB/Swiss-Prot
    P43251
    Related
    ENSP00000495254.1, OTTHUMP00000160300, ENST00000643237.1, OTTHUMT00000252103
    Conserved Domains (1) summary
    cd07567
    Location:58361
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
  2. NM_001281723.2NP_001268652.1  biotinidase isoform 1

    See identical proteins and their annotated locations for NP_001268652.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 encode isoforms that are the same length, but have distinct protein sequences.
    Source sequence(s)
    AC027129, AK297033, BM565546, CA308344
    Consensus CDS
    CCDS63563.1
    UniProtKB/Swiss-Prot
    P43251
    Related
    ENSP00000388212.1, OTTHUMP00000209134, ENST00000449107.6, OTTHUMT00000342874
    Conserved Domains (1) summary
    cd07567
    Location:60363
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
  3. NM_001281724.2NP_001268653.1  biotinidase isoform 2

    See identical proteins and their annotated locations for NP_001268653.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1 that result in a distinct 5' UTR and cause translation initiation at a downstream start codon. Variants 1 and 2 encode isoforms that are the same length, but have distinct protein sequences.
    Source sequence(s)
    AC027129, AK294301, AW301159, BF195658, BM565546, BM710057, BP326502, CA308344, HY209451
    Consensus CDS
    CCDS63564.1
    UniProtKB/Swiss-Prot
    P43251
    Related
    ENSP00000400995.1, OTTHUMP00000209135, ENST00000437172.5, OTTHUMT00000342875
    Conserved Domains (1) summary
    cd07567
    Location:60363
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
  4. NM_001281725.2NP_001268654.1  biotinidase isoform 4 precursor

    See identical proteins and their annotated locations for NP_001268654.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences compared to variant 1 that result in a distinct 5' UTR and cause translation initiation at a downstream start codon. The encoded protein (isoform 4) is shorter and has a distinct N-terminus compared to isoform 1. Variants 4 and 6 encode the same isoform.
    Source sequence(s)
    AC027129, AK301838, AL573841, BM565546, CA308344
    Consensus CDS
    CCDS63565.1
    UniProtKB/Swiss-Prot
    P43251
    Related
    ENSP00000373288.4, ENST00000383778.5
    Conserved Domains (1) summary
    cd07567
    Location:38341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
  5. NM_001281726.1NP_001268655.1  biotinidase isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 5) is shorter and has distinct N- and C-termini compared to isoform 1.
    Source sequence(s)
    AI391654, BE814688, BM919775
    Consensus CDS
    CCDS87052.1
    Related
    ENSP00000403775.2, ENST00000417015.2
    Conserved Domains (1) summary
    cl11424
    Location:58161
    nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes
  6. NM_001323582.1NP_001310511.1  biotinidase isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: Variants 4 and 6 encode the same isoform (4).
    Source sequence(s)
    AC027129, CA308344
    Consensus CDS
    CCDS63565.1
    UniProtKB/Swiss-Prot
    P43251
    Related
    ENSP00000306477.6, ENST00000303498.10
    Conserved Domains (1) summary
    cd07567
    Location:38341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    15601352..15653711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007088.1XP_016862577.1  biotinidase isoform X1

    UniProtKB/Swiss-Prot
    P43251
    Conserved Domains (1) summary
    cd07567
    Location:38341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
  2. XM_011534041.2XP_011532343.1  biotinidase isoform X1

    See identical proteins and their annotated locations for XP_011532343.1

    UniProtKB/Swiss-Prot
    P43251
    Conserved Domains (1) summary
    cd07567
    Location:38341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
  3. XM_024453724.1XP_024309492.1  biotinidase isoform X1

    Conserved Domains (1) summary
    cd07567
    Location:38341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)
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