Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
1.11.1.-
Oxidoreductases;
Acting on a peroxide as acceptor;
Peroxidases;
1.6.3.1
Oxidoreductases;
Acting on NADH or NADPH;
With oxygen as acceptor;
NAD(P)H oxidase (H2O2-forming)
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0042335 | cuticle development |
| Biological Process | GO:0019221 | cytokine-mediated signaling pathway |
| Biological Process | GO:0006952 | defense response |
| Biological Process | GO:0042446 | hormone biosynthetic process |
| Biological Process | GO:0050665 | hydrogen peroxide biosynthetic process |
| Biological Process | GO:0042744 | hydrogen peroxide catabolic process |
| Biological Process | GO:2000147 | positive regulation of cell motility |
| Biological Process | GO:0090303 | positive regulation of wound healing |
| Biological Process | GO:0051591 | response to cAMP |
| Biological Process | GO:0006979 | response to oxidative stress |
| Biological Process | GO:0009615 | response to virus |
| Biological Process | GO:0042554 | superoxide anion generation |
| Biological Process | GO:0006590 | thyroid hormone generation |
| Molecular Function | GO:0016174 | NAD(P)H oxidase H2O2-forming activity |
| Molecular Function | GO:0106293 | NADH oxidase H202-forming activity |
| Molecular Function | GO:0106294 | NADPH oxidase H202-forming activity |
| Molecular Function | GO:0005509 | calcium ion binding |
| Molecular Function | GO:0020037 | heme binding |
| Molecular Function | GO:0004601 | peroxidase activity |
| Molecular Function | GO:0016175 | superoxide-generating NAD(P)H oxidase activity |
| Cellular Component | GO:0043020 | NADPH oxidase complex |
| Cellular Component | GO:0070161 | anchoring junction |
| Cellular Component | GO:0045177 | apical part of cell |
| Cellular Component | GO:0016324 | apical plasma membrane |
| Cellular Component | GO:0031252 | cell leading edge |
| Cellular Component | GO:0009986 | cell surface |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005783 | endoplasmic reticulum |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR002048 | EF-hand domain |
| IPR010255 | Haem peroxidase superfamily |
| IPR011992 | EF-hand domain pair |
| IPR013112 | FAD-binding 8 |
| IPR013121 | Ferric reductase, NAD binding domain |
| IPR013130 | Ferric reductase transmembrane component-like domain |
| IPR017927 | FAD-binding domain, ferredoxin reductase-type |
| IPR017938 | Riboflavin synthase-like beta-barrel |
| IPR018247 | EF-Hand 1, calcium-binding site |
| IPR019791 | Haem peroxidase, animal-type |
| IPR034821 | Dual oxidase, peroxidase domain |
| IPR037120 | Haem peroxidase domain superfamily, animal type |
| IPR039261 | Ferredoxin-NADP reductase (FNR), nucleotide-binding domain |
| Pfam
|
Pfam name |
|---|---|
| PF00036 | EF hand |
| PF01794 | Ferric reductase like transmembrane component |
| PF03098 | Animal haem peroxidase |
| PF08022 | FAD-binding domain |
| PF08030 | Ferric reductase NAD binding domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-209968 | Thyroxine biosynthesis | Internal node | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Apical cell membrane | ECO:0000269 | PubMed:15591162 |
| Apical cell membrane | ECO:0000269 | PubMed:26301257 |
| Cell junction | ECO:0000269 | PubMed:26301257 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000158 | Macroglossia |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000282 | Facial edema |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000821 | Hypothyroidism |
| HP:0000851 | Congenital hypothyroidism |
| HP:0000853 | Goiter |
| HP:0000969 | Edema |
| HP:0001070 | Mottled pigmentation |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001265 | Hyporeflexia |
| HP:0001537 | Umbilical hernia |
| HP:0001615 | Hoarse cry |
| HP:0001662 | Bradycardia |
| HP:0002019 | Constipation |
| HP:0002045 | Hypothermia |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration |
| HP:0003265 | Neonatal hyperbilirubinemia |
| HP:0004491 | Large posterior fontanelle |
| HP:0005280 | Depressed nasal bridge |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0005990 | Thyroid hypoplasia |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0008263 | Thyroid defect in oxidation and organification of iodide |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0011968 | Feeding difficulties |
| HP:0012758 | Neurodevelopmental delay |
| HP:0025482 | Positive perchlorate discharge test |
| HP:0025483 | Abnormal circulating thyroglobulin level |
| HP:0025484 | Increased circulating thyroglobulin level |
| HP:0031169 | Postterm pregnancy |
| HP:0031219 | Reduced radioactive iodine uptake |
| HP:0031220 | Increased radioactive iodine uptake |
| HP:0031221 | Abnormal radioactive iodine uptake test result |
| HP:0031507 | Decreased circulating T4 concentration |
| HP:0100786 | Hypersomnia |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| thyroid dyshormonogenesis 6 | MONDO:0011792 | E03 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:607200 | |
| genetic transient congenital hypothyroidism | MONDO:0044331 | P72 | chapter16, Certain conditions originating in the perinatal period | Orphanet:226316 |