BTD - biotinidase Gene
Species: Homo sapiens
About BTD
This gene has 22 transcripts (splice variants), 251 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 6.6), fat (RPKM 5.9) and 25 other tissues.
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]
BTD Products (41)
| mRNA | Protein | Name |
|---|---|---|
| NM_001281723.4 | NP_001268652.2 | biotinidase isoform 1 precursor |
| NM_001281724.3 | NP_001268653.2 | biotinidase isoform 1 precursor |
| NM_001281725.3 | NP_001268654.1 | biotinidase isoform 1 precursor |
| NM_001281726.3 | NP_001268655.2 | biotinidase isoform 5 precursor |
| NM_001323582.2 | NP_001310511.1 | biotinidase isoform 1 precursor |
| NM_001370658.1 | NP_001357587.1 | biotinidase isoform 1 precursor |
| NM_001370752.1 | NP_001357681.1 | biotinidase isoform 6 precursor |
| NM_001370753.1 | NP_001357682.1 | biotinidase isoform 7 precursor |
| NM_001407364.1 | NP_001394293.1 | biotinidase isoform 1 precursor |
| NM_001407365.1 | NP_001394294.1 | biotinidase isoform 1 precursor |
| NM_001407366.1 | NP_001394295.1 | biotinidase isoform 1 precursor |
| NM_001407367.1 | NP_001394296.1 | biotinidase isoform 1 precursor |
| NM_001407368.1 | NP_001394297.1 | biotinidase isoform 1 precursor |
| NM_001407369.1 | NP_001394298.1 | biotinidase isoform 1 precursor |
| NM_001407370.1 | NP_001394299.1 | biotinidase isoform 1 precursor |
| NM_001407371.1 | NP_001394300.1 | biotinidase isoform 1 precursor |
| NM_001407372.1 | NP_001394301.1 | biotinidase isoform 1 precursor |
| NM_001407373.1 | NP_001394302.1 | biotinidase isoform 1 precursor |
| NM_001407374.1 | NP_001394303.1 | biotinidase isoform 1 precursor |
| NM_001407375.1 | NP_001394304.1 | biotinidase isoform 1 precursor |
| NM_001407376.1 | NP_001394305.1 | biotinidase isoform 1 precursor |
| NM_001407377.1 | NP_001394306.1 | biotinidase isoform 1 precursor |
| NM_001407378.1 | NP_001394307.1 | biotinidase isoform 1 precursor |
| NM_001407379.1 | NP_001394308.1 | biotinidase isoform 6 precursor |
| NM_001407380.1 | NP_001394309.1 | biotinidase isoform 8 precursor |
| NM_001407381.1 | NP_001394310.1 | biotinidase isoform 9 precursor |
| NM_001407382.1 | NP_001394311.1 | biotinidase isoform 5 precursor |
| NM_001407383.1 | NP_001394312.1 | biotinidase isoform 5 precursor |
| NM_001407384.1 | NP_001394313.1 | biotinidase isoform 5 precursor |
| NM_001407386.1 | NP_001394315.1 | biotinidase isoform 5 precursor |
| NM_001407388.1 | NP_001394317.1 | biotinidase isoform 5 precursor |
| NM_001407390.1 | NP_001394319.1 | biotinidase isoform 5 precursor |
| NM_001407392.1 | NP_001394321.1 | biotinidase isoform 5 precursor |
| NM_001407394.1 | NP_001394323.1 | biotinidase isoform 5 precursor |
| NM_001407395.1 | NP_001394324.1 | biotinidase isoform 5 precursor |
| NM_001407396.1 | NP_001394325.1 | biotinidase isoform 5 precursor |
| NM_001407397.1 | NP_001394326.1 | biotinidase isoform 5 precursor |
| NM_001407398.1 | NP_001394327.1 | biotinidase isoform 10 precursor |
| NM_001407399.1 | NP_001394328.1 | biotinidase isoform 10 precursor |
| NM_001407400.1 | NP_001394329.1 | biotinidase isoform 11 precursor |
| NM_001407401.1 | NP_001394330.1 | biotinidase isoform 12 precursor |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
BTD Protein Structure
CN_hydrolase: Carbon-nitrogen hydrolase (88 - 269)
- 0
- 100
- 200
- 300
- 400
- 500
- 543 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
biotinidase |
|
BTD Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
BTD | P43251 | MYO1D | Homo sapiens | O94832 | 33961781 | |
|
Intra
|
BTD | P43251 | MYO1D | Homo sapiens | O94832 | 28514442 |
Recombinant BTD Proteins
| Art. -Nr. | Produktname | Accession | Reinheit |
|---|---|---|---|
| HY-P72857 | Biotinidase/BTD Protein, Human (HEK293, His) | P43251 (A42-D543) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Biotinidase Deficiency |
|
|
| Biotin Deficiency |
|
|
| Multiple Carboxylase Deficiency |
|
|
| Holocarboxylase Synthetase Deficiency |
|
|
| Seborrheic Dermatitis |
|
|
| Organic Acidemia |
|
|
| Galactosemia I |
|
|
| Dermatitis |
|
|
| Metabolic Acidosis |
|
|
| Maple Syrup Urine Disease |
|
|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
|
| Phenylketonuria |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Tyrosinemia |
|
|
| Glycogen Storage Disease |
|
|
| Homocystinuria |
|
|
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
|
| Optic Nerve Disease |
|
|
| Congenital Hypothyroidism |
|
|
| Mixed Cerebral Palsy |
|
|
| Hemoglobinopathy |
|
|
| Cerebral Creatine Deficiency Syndrome 2 |
|
|
| Thiamine Metabolism Dysfunction Syndrome 2 |
|
|
| Alopecia |
|
|
| Cerebral Creatine Deficiency Syndrome |
|
|
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
|
| Sensorineural Hearing Loss |
|
|
| West Syndrome |
|
|
| Phosphoserine Aminotransferase Deficiency |
|
|
| Cerebral Creatine Deficiency Syndrome 3 |
|
|
| Hypotonia |
|
|
| Epilepsy, Pyridoxine-Dependent |
|
|
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
|
| Amino Acid Metabolic Disorder |
|
|
| Glutaric Acidemia I |
|
|
| Lactic Acidosis |
|
|
| L-2-Hydroxyglutaric Aciduria |
|
|
| Glycine Encephalopathy |
|
|
| Propionic Acidemia |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | BTD | VGNC | VGNC:38556 |
| Rattus norvegicus | BTD | RGD | RGD:1305316 |
| Mus musculus | BTD | MGD | MGI:1347001 |
| Felis catus | BTD | VGNC | VGNC:60204 |
| Bos taurus | BTD | VGNC | VGNC:26594 |
| Macaca mulatta | BTD | VGNC | VGNC:70287 |
| Others | BTD | NCBI |