Structure
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2YS0 | Solution structure of the Somatomedin B domain of human Ectonucleotide pyrophosphatase/phosphodiesterase family member | |
| 6WET | 2.6 | Crystal structures of human E-NPP 1: apo |
| 6WEU | 2.65 | Crystal structures of human E-NPP 1: bound to adenosine-5'-thio-monophosphate |
| 6WEV | 2.9 | Crystal structures of human E-NPP 1: bound to N-{[1-(6,7-dimethoxy-5,8-dihydroquinazolin-4-yl)piperidin-4-yl]methyl}sulfuric diamide |
| 6WEW | 2.73 | Crystal structures of human E-NPP 1: bound to N-{4-[(7-methoxyquinolin-4-yl)oxy]phenyl}sulfuric diamide |
| 6WFJ | 2.5 | Crystal structures of human E-NPP 1: apo |
Showing 1 to 6 of 6 entries
GO term
GO ontology
| GO term | GO description |
|---|---|---|
| Biological Process | GO:0050427 | 3'-phosphoadenosine 5'-phosphosulfate metabolic process |
| Biological Process | GO:0046034 | ATP metabolic process |
| Biological Process | GO:0030282 | bone mineralization |
| Biological Process | GO:0032869 | cellular response to insulin stimulus |
| Biological Process | GO:0010467 | gene expression |
| Biological Process | GO:0006091 | generation of precursor metabolites and energy |
| Biological Process | GO:0006955 | immune response |
| Biological Process | GO:0030505 | inorganic diphosphate transport |
| Biological Process | GO:0030643 | intracellular phosphate ion homeostasis |
| Biological Process | GO:0030318 | melanocyte differentiation |
Showing 1 to 10 of 51 entries
InterPro / Pfam
| InterPro
| InterPro name |
|---|---|
| IPR001212 | Somatomedin B domain |
| IPR001604 | DNA/RNA non-specific endonuclease |
| IPR002591 | Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase |
| IPR017850 | Alkaline-phosphatase-like, core domain superfamily |
| IPR020436 | Somatomedin B domain, chordata |
| IPR020821 | Extracellular Endonuclease, subunit A |
| IPR036024 | Somatomedin B-like domain superfamily |
| IPR044925 | His-Me finger superfamily |
| IPR044929 | DNA/RNA non-specific endonuclease superfamily |
Showing 1 to 9 of 9 entries
Reactome
| Reactome
| Reactome Name | Node type
| Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-196843 | Vitamin B2 (riboflavin) metabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-199220 | Vitamin B5 (pantothenate) metabolism | Internal node | R-HSA-1430728 | Metabolism |
Showing 1 to 2 of 2 entries
Subcellular location
| Location
| ECO term
| Pubmed |
|---|---|---|
| Basolateral cell membrane | ECO:0000269 | PubMed:11598187 |
| Cell membrane | ECO:0000269 | PubMed:15072822 |
| Cell membrane | ECO:0000269 | PubMed:27467858 |
| Cell membrane | ECO:0000269 | PubMed:8001561 |
| Secreted | ECO:0000250 |
Showing 1 to 5 of 5 entries
Interactor | Variant | Drug
Phenotype
| HPO ID
| HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000117 | Renal phosphate wasting |
| HP:0000121 | Nephrocalcinosis |
| HP:0000164 | Abnormality of the dentition |
| HP:0000218 | High palate |
| HP:0000365 | Hearing impairment |
| HP:0000381 | Stapes ankylosis |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
Showing 1 to 10 of 174 entries
Tissue and cell type
| Tissue
| Cell type
| Expression level | Reliability |
|---|---|---|---|
| appendix | endocrine cells | Low | Enhanced |
| appendix | enterocytes | Low | Enhanced |
| appendix | germinal center cells | Medium | Enhanced |
| appendix | goblet cells | Low | Enhanced |
| breast | glandular cells | Low | Enhanced |
| caudate | neuronal cells | Low | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | neuropil | Low | Enhanced |
| cervix | glandular cells | Low | Enhanced |
| cervix | squamous epithelial cells | Low | Enhanced |
Showing 1 to 10 of 51 entries
Disease
| Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
|---|---|---|---|---|---|
| arterial calcification, generalized, of infancy, 1 | MONDO:0008817 | Q28 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:208000 | |
| autosomal recessive inherited pseudoxanthoma elasticum | MONDO:0009925 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:264800 | Orphanet:758 |
| hypophosphatemic rickets, autosomal recessive, 2 | MONDO:0013219 | E83 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:613312 | |
| hypopigmentation-punctate palmoplantar keratoderma syndrome | MONDO:0014227 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:615522 | Orphanet:324561 |
| ossification of the posterior longitudinal ligament of the spine | MONDO:0011230 | M48 | chapter13, Diseases of the musculoskeletal system and connective tissue | OMIM:602475 | |
| type 2 diabetes mellitus | MONDO:0005148 | E11 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:125853 |
Showing 1 to 6 of 6 entries