Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
4.2.1.96
Lyases;
Carbon-oxygen lyases;
Hydro-lyases;
4a-hydroxytetrahydrobiopterin dehydratase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006729 | tetrahydrobiopterin biosynthetic process |
| Molecular Function | GO:0008124 | 4-alpha-hydroxytetrahydrobiopterin dehydratase activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0004505 | phenylalanine 4-monooxygenase activity |
| Molecular Function | GO:0003713 | transcription coactivator activity |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005654 | nucleoplasm |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-8964208 | Phenylalanine metabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:24204001 |
| Nucleus | ECO:0000269 | PubMed:24204001 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000737 | Irritability |
| HP:0001270 | Motor delay |
| HP:0001276 | Hypertonia |
| HP:0001290 | Generalized hypotonia |
| HP:0001300 | Parkinsonism |
| HP:0001337 | Tremor |
| HP:0002917 | Hypomagnesemia |
| HP:0004904 | Maturity-onset diabetes of the young |
| HP:0004923 | Hyperphenylalaninemia |
| HP:0008297 | Transient hyperphenylalaninemia |
| HP:0008936 | Axial hypotonia |
| HP:0010553 | Oculogyric crisis |
| HP:0012758 | Neurodevelopmental delay |
| HP:0033594 | Elevated urinary 7-biopterin level |
| HP:0040206 | Abnormal circulating neopterin concentration |
| HP:0040210 | Abnormal circulating biopterin concentration |
| HP:0100021 | Cerebral palsy |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Enhanced |
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | Medium | Enhanced |
| breast | adipocytes | Low | Enhanced |
| bronchus | ciliated cells (ciliary rootlets) | Low | Enhanced |
| cerebral cortex | neuronal cells | Low | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| colon | peripheral nerve/ganglion | Low | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| endometrium 1 | glandular cells | Low | Enhanced |
| endometrium 2 | glandular cells | Low | Enhanced |
| epididymis | glandular cells | Low | Enhanced |
| fallopian tube | ciliated cells (cell body) | Low | Enhanced |
| fallopian tube | ciliated cells (ciliary rootlets) | Low | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| heart muscle | cardiomyocytes | Low | Enhanced |
| kidney | cells in tubules | Medium | Enhanced |
| liver | hepatocytes | High | Enhanced |
| nasopharynx | ciliated cells (ciliary rootlets) | Medium | Enhanced |
| pancreas | exocrine glandular cells | Low | Enhanced |
| parathyroid gland | glandular cells | Low | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skin 1 | fibroblasts | Low | Enhanced |
| skin 1 | melanocytes | Medium | Enhanced |
| skin 2 | epidermal cells | Low | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| stomach 1 | glandular cells | Low | Enhanced |
| stomach 2 | glandular cells | Low | Enhanced |
| testis | Leydig cells | Medium | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| urinary bladder | urothelial cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| pterin-4 alpha-carbinolamine dehydratase 1 deficiency | MONDO:0009908 | E70 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:264070 | Orphanet:1578 |