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biotinidase
Summary
- Gene Symbol
-
- BTD
- Aliases
-
- biotinase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Glycoprotein
- Hydrolase
- Proteomics identification
- Reference proteome
- Secreted
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A2R8Y5J9 |
|
| A0A5F9ZHE9 |
|
| A0A5F9ZH57 |
|
| A0A5F9ZH80 |
|
| A0A5F9ZHF5 |
|
| P43251 |
|
| A0A5F9ZHR1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| biotin metabolic process |
|
|
| biotin metabolic process |
|
|
| central nervous system development |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular exosome |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
|
|
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides |
|
|
| biotinidase activity |
|
|
| biotinidase activity |
|
|
| biotinidase activity |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- vanin-like
- Functional Category
-
- E: Amino acid transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides |
| hydrolase activity |
| InterPro |
|---|
| Biotinidase-like, eukaryotic |
| Biotinidase/VNN family |
| Carbon-nitrogen hydrolase superfamily |
| Carbon-nitrogen hydrolase |
| Vanin, C-terminal |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:856 | biotinidase deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000478 | Abnormality of the eye |
| HP:0000509 | Conjunctivitis |
| HP:0000572 | Visual loss |
| HP:0000575 | Scotoma |
| HP:0000648 | Optic atrophy |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000964 | Eczematoid dermatitis |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79241 |
|
| OMIM:253260 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002863
- Gene Name
- biotinidase
Ortholog
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 26363 | MGI:1347001 | |
| 306262 | RGD:1305316 | |
| 318189 | FB:FBgn0052751 | |
| 326238 | FB:FBgn0052750 | |
| 31551 | FB:FBgn0040069 |
