Structure
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1IKT | 1.75 | LIGANDED STEROL CARRIER PROTEIN TYPE 2 (SCP-2) LIKE DOMAIN OF HUMAN MULTIFUNCTIONAL ENZYME TYPE 2 (MFE-2) |
| 1S9C | 3.0 | Crystal structure analysis of the 2-enoyl-CoA hydratase 2 domain of human peroxisomal multifunctional enzyme type 2 |
| 1ZBQ | 2.19 | Crystal Structure Of Human 17-Beta-Hydroxysteroid Dehydrogenase Type 4 In Complex With NAD |
| 6Z1W | 2.48 | Crystal structure of human steroid carrier protein SL (SCP-2L) mutant A100C |
| 6Z1X | 2.09 | Crystal structure of human steroid carrier protein SL (SCP-2L) mutant V83C |
Showing 1 to 5 of 5 entries
GO term
GO ontology
| GO term | GO description |
|---|---|---|
| Biological Process | GO:0060009 | Sertoli cell development |
| Biological Process | GO:0008209 | androgen metabolic process |
| Biological Process | GO:0008210 | estrogen metabolic process |
| Biological Process | GO:0006635 | fatty acid beta-oxidation |
| Biological Process | GO:0036112 | medium-chain fatty-acyl-CoA metabolic process |
| Biological Process | GO:0001649 | osteoblast differentiation |
| Biological Process | GO:0000038 | very long-chain fatty acid metabolic process |
| Biological Process | GO:0036111 | very long-chain fatty-acyl-CoA metabolic process |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0016020 | membrane |
Showing 1 to 10 of 22 entries
InterPro / Pfam
| InterPro
| InterPro name |
|---|---|
| IPR002347 | Short-chain dehydrogenase/reductase SDR |
| IPR002539 | MaoC-like dehydratase domain |
| IPR003033 | SCP2 sterol-binding domain |
| IPR020904 | Short-chain dehydrogenase/reductase, conserved site |
| IPR029069 | HotDog domain superfamily |
| IPR036291 | NAD(P)-binding domain superfamily |
| IPR036527 | SCP2 sterol-binding domain superfamily |
Showing 1 to 7 of 7 entries
Reactome
| Reactome
| Reactome Name | Node type
| Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-193368 | Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-2046106 | alpha-linolenic acid (ALA) metabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-389887 | Beta-oxidation of pristanoyl-CoA | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-390247 | Beta-oxidation of very long chain fatty acids | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-9033241 | Peroxisomal protein import | Internal node | R-HSA-9609507 | Protein localization |
| R-HSA-9033500 | TYSND1 cleaves peroxisomal proteins | Leaf | R-HSA-9609507 | Protein localization |
Showing 1 to 6 of 6 entries
Subcellular location
Interactor | Variant | Drug
Phenotype
| HPO ID
| HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000107 | Renal cyst |
| HP:0000133 | Gonadal dysgenesis |
| HP:0000218 | High palate |
| HP:0000239 | Large fontanelles |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
Showing 1 to 10 of 81 entries
Tissue and cell type
| Tissue
| Cell type
| Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | endocrine cells | High | Enhanced |
| appendix | enterocytes | High | Enhanced |
| appendix | germinal center cells | Medium | Enhanced |
| appendix | goblet cells | High | Enhanced |
| bone marrow | hematopoietic cells | Low | Enhanced |
| breast | glandular cells | Low | Enhanced |
| breast | myoepithelial cells | Low | Enhanced |
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| caudate | glial cells | Low | Enhanced |
Showing 1 to 10 of 76 entries
Disease
| Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
|---|---|---|---|---|---|
| d-bifunctional protein deficiency | MONDO:0009855 | E71 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:261515 | Orphanet:300 |
| perrault syndrome 1 | MONDO:0009300 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:233400 |
Showing 1 to 2 of 2 entries