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BTD biotinidase [ Homo sapiens (human) ]

Gene ID: 686, updated on 2-Nov-2024

Summary

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Official Symbol
BTDprovided by HGNC
Official Full Name
biotinidaseprovided by HGNC
Primary source
HGNC:HGNC:1122
See related
Ensembl:ENSG00000169814 MIM:609019; AllianceGenome:HGNC:1122
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
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Genomic context

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See BTD in Genome Data Viewer
Location:
3p25.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (15601361..15722516)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (15603680..15724834)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15642868..15764023)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene collagen like tail subunit of asymmetric acetylcholinesterase Neighboring gene microRNA 4270 Neighboring gene RNA, 7SL, cytoplasmic 110, pseudogene Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:15642981-15643623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:15688189-15688722 Neighboring gene Sharpr-MPRA regulatory region 6531 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65637 Neighboring gene ankyrin repeat domain 28 Neighboring gene microRNA 3134 Neighboring gene uncharacterized LOC101927647 Neighboring gene RNA, 7SL, cytoplasmic 4, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Seventeen novel mutations that cause profound biotinidase deficiency. Wolf B, et al. Mol Genet Metab, 2002 Sep-Oct. PMID 12359137
  2. Analysis of mutations causing biotinidase deficiency. Pindolia K, et al. Hum Mutat, 2010 Sep. PMID 20556795
  3. High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. Milánkovics I, et al. J Inherit Metab Dis, 2010 Dec. PMID 20549359
  4. Technical standards and guidelines for the diagnosis of biotinidase deficiency. Cowan TM, et al. Genet Med, 2010 Jul. PMID 20539236
  5. Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook. Angaroni CJ, et al. J Inherit Metab Dis, 2010 Oct. PMID 20532819

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
    Title: Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
  2. Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
    Title: Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
  3. Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.
    Title: Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.
  4. Biotinidase deficiency: What have we learned in forty years?
    Title: Biotinidase deficiency: What have we learned in forty years?
  5. BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
    Title: BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
  6. In patients with biotinidase deficiency, the p.Leu40Pro, p.Cys160Tyr and p.Leu446Pro variants are deleterious; the p.Asn489Ser is probably related to a mild biochemical phenotype; and p.Asp222Asn variant is probably not deleterious. The p.Asp444His variant seems to code for a protein with variable activity.
    Title: Effect of BTD gene variants on in vitro biotinidase activity.
  7. BTD mutation is associated with biotinidase deficiency.
    Title: Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
  8. Biotinidase deficiency is reviewed.
    Title: Clinical utility gene card for: Biotinidase deficiency-update 2015.
  9. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66).
    Title: Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
  10. The history and genetic basis of biotinidase deficiency has been presented. (Review)
    Title: Biotinidase deficiency and our champagne legacy.
Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 GOA

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

General protein information

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Preferred Names
biotinidase
Names
biocytinase
biotinase
NP_001268652.2
NP_001268653.2
NP_001268654.1
NP_001268655.2
NP_001310511.1
NP_001357587.1
NP_001357681.1
NP_001357682.1
NP_001394293.1
NP_001394294.1
NP_001394295.1
NP_001394296.1
NP_001394297.1
NP_001394298.1
NP_001394299.1
NP_001394300.1
NP_001394301.1
NP_001394302.1
NP_001394303.1
NP_001394304.1
NP_001394305.1
NP_001394306.1
NP_001394307.1
NP_001394308.1
NP_001394309.1
NP_001394310.1
NP_001394311.1
NP_001394312.1
NP_001394313.1
NP_001394315.1
NP_001394317.1
NP_001394319.1
NP_001394321.1
NP_001394323.1
NP_001394324.1
NP_001394325.1
NP_001394326.1
NP_001394327.1
NP_001394328.1
NP_001394329.1
NP_001394330.1

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.

Genomic

  1. NG_008019.3 RefSeqGene

    Range
    5395..57364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281723.4 → NP_001268652.2  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    Consensus CDS
    CCDS63565.1
    UniProtKB/Swiss-Prot
    A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
    Conserved Domains (1) summary
    cd07567
    Location:38 → 341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)

  2. NM_001281724.3 → NP_001268653.2  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    Consensus CDS
    CCDS63565.1
    UniProtKB/Swiss-Prot
    A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
    Related
    ENSP00000400995.2, ENST00000437172.6
    Conserved Domains (1) summary
    cd07567
    Location:38 → 341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)

  3. NM_001281725.3 → NP_001268654.1  biotinidase isoform 1 precursor

    See identical proteins and their annotated locations for NP_001268654.1

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    Consensus CDS
    CCDS63565.1
    UniProtKB/Swiss-Prot
    A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
    Related
    ENSP00000394277.2, ENST00000436193.6
    Conserved Domains (1) summary
    cd07567
    Location:38 → 341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)

  4. NM_001281726.3 → NP_001268655.2  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    Consensus CDS
    CCDS87052.2
    UniProtKB/TrEMBL
    A0A2R8Y5J9, A0A5F9ZH97, F8WCU5
    Related
    ENSP00000403775.3, ENST00000417015.3
    Conserved Domains (1) summary
    cl11424
    Location:38 → 141
    nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes

  5. NM_001323582.2 → NP_001310511.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    Consensus CDS
    CCDS63565.1
    UniProtKB/Swiss-Prot
    A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
    Related
    ENSP00000306477.6, ENST00000303498.10
    Conserved Domains (1) summary
    cd07567
    Location:38 → 341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)

  6. NM_001370658.1 → NP_001357587.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    Consensus CDS
    CCDS63565.1
    UniProtKB/Swiss-Prot
    A6NHF2, B2R865, B4DFX1, B4DLJ9, B7Z7C9, F8W1Q3, P43251, Q96EM9
    Related
    ENSP00000495254.2, ENST00000643237.3
    Conserved Domains (1) summary
    cd07567
    Location:38 → 341
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)

  7. NM_001370752.1 → NP_001357681.1  biotinidase isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    Consensus CDS
    CCDS93220.1
    UniProtKB/TrEMBL
    A0A5F9ZH15, A0A5F9ZH80
    Related
    ENSP00000500131.1, ENST00000672427.1
    Conserved Domains (1) summary
    cd07567
    Location:38 → 335
    biotinidase_like; biotinidase and vanins (class 4 nitrilases)

  8. NM_001370753.1 → NP_001357682.1  biotinidase isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    Consensus CDS
    CCDS93221.1
    UniProtKB/TrEMBL
    A0A5F9ZH97, A0A5F9ZHR1
    Related
    ENSP00000500530.1, ENST00000672760.1
    Conserved Domains (1) summary
    cl11424
    Location:38 → 133
    nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes

  9. NM_001407364.1 → NP_001394293.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  10. NM_001407365.1 → NP_001394294.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    Related
    ENSP00000397113.2, ENST00000427382.2

  11. NM_001407366.1 → NP_001394295.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  12. NM_001407367.1 → NP_001394296.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  13. NM_001407368.1 → NP_001394297.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  14. NM_001407369.1 → NP_001394298.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  15. NM_001407370.1 → NP_001394299.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  16. NM_001407371.1 → NP_001394300.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  17. NM_001407372.1 → NP_001394301.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  18. NM_001407373.1 → NP_001394302.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  19. NM_001407374.1 → NP_001394303.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  20. NM_001407375.1 → NP_001394304.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  21. NM_001407376.1 → NP_001394305.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  22. NM_001407377.1 → NP_001394306.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  23. NM_001407378.1 → NP_001394307.1  biotinidase isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  24. NM_001407379.1 → NP_001394308.1  biotinidase isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    UniProtKB/TrEMBL
    A0A5F9ZH80

  25. NM_001407380.1 → NP_001394309.1  biotinidase isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    UniProtKB/TrEMBL
    A0A5F9ZHF5
    Related
    ENSP00000500288.1, ENST00000673467.1

  26. NM_001407381.1 → NP_001394310.1  biotinidase isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129

  27. NM_001407382.1 → NP_001394311.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5
    Related
    ENSP00000518999.1, ENST00000713695.1

  28. NM_001407383.1 → NP_001394312.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5

  29. NM_001407384.1 → NP_001394313.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5

  30. NM_001407386.1 → NP_001394315.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5

  31. NM_001407388.1 → NP_001394317.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5

  32. NM_001407390.1 → NP_001394319.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5

  33. NM_001407392.1 → NP_001394321.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5

  34. NM_001407394.1 → NP_001394323.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5
    Related
    ENSP00000494864.1, ENST00000482824.3

  35. NM_001407395.1 → NP_001394324.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5

  36. NM_001407396.1 → NP_001394325.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5

  37. NM_001407397.1 → NP_001394326.1  biotinidase isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129
    UniProtKB/TrEMBL
    A0A2R8Y5J9, F8WCU5
    Related
    ENSP00000500267.1, ENST00000672336.1

  38. NM_001407398.1 → NP_001394327.1  biotinidase isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    UniProtKB/TrEMBL
    A0A5F9ZH57
    Related
    ENSP00000500069.2, ENST00000671928.2

  39. NM_001407399.1 → NP_001394328.1  biotinidase isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    UniProtKB/TrEMBL
    A0A5F9ZH57

  40. NM_001407400.1 → NP_001394329.1  biotinidase isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950

  41. NM_001407401.1 → NP_001394330.1  biotinidase isoform 12 precursor

    Status: REVIEWED

    Source sequence(s)
    AC027129, AC090950
    UniProtKB/TrEMBL
    A0A5F9ZHE9
    Related
    ENSP00000500325.1, ENST00000673620.1

RNA

  1. NR_176358.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC027129

  2. NR_176359.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC027129

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    15601361..15722516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    15603680..15724834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43251.2 GenPept UniProtKB/Swiss-Prot:P43251

Gene LinkOut

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Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous