Structure
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 6WG3 | 5.3 | Cryo-EM structure of human Cohesin-NIPBL-DNA complex |
| 6WG4 | 2.31 | Crystal structure of human SMC1-SMC3 hinge domain heterodimer in south-open conformation |
| 6WG6 | 3.54 | Crystal structure of human SMC1-SMC3 hinge domain heterodimer in north-open conformation |
| 6WGE | 3.9 | Cryo-EM structure of human Cohesin-NIPBL-DNA complex without STAG1 |
Showing 1 to 4 of 4 entries
GO term
GO ontology
| GO term | GO description |
|---|---|---|
| Biological Process | GO:0006281 | DNA repair |
| Biological Process | GO:0051301 | cell division |
| Biological Process | GO:0034089 | establishment of meiotic sister chromatid cohesion |
| Biological Process | GO:0034087 | establishment of mitotic sister chromatid cohesion |
| Biological Process | GO:0051321 | meiotic cell cycle |
| Biological Process | GO:0000278 | mitotic cell cycle |
| Biological Process | GO:0007064 | mitotic sister chromatid cohesion |
| Biological Process | GO:0090307 | mitotic spindle assembly |
| Biological Process | GO:0006275 | regulation of DNA replication |
| Biological Process | GO:0007062 | sister chromatid cohesion |
Showing 1 to 10 of 32 entries
InterPro / Pfam
| InterPro
| InterPro name |
|---|---|
| IPR003395 | RecF/RecN/SMC, N-terminal |
| IPR010935 | SMCs flexible hinge |
| IPR024704 | Structural maintenance of chromosomes protein |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| IPR036277 | SMCs flexible hinge superfamily |
| IPR041741 | Structural maintenance of chromosomes 3, ABC domain, eukaryotic |
Showing 1 to 6 of 6 entries
Reactome
| Reactome
| Reactome Name | Node type
| Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1221632 | Meiotic synapsis | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-2467813 | Separation of Sister Chromatids | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-2468052 | Establishment of Sister Chromatid Cohesion | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-2470946 | Cohesin Loading onto Chromatin | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-9018519 | Estrogen-dependent gene expression | Leaf | R-HSA-162582 | Signal Transduction |
Showing 1 to 7 of 7 entries
Subcellular location
| Location
| ECO term
| Pubmed |
|---|---|---|
| Chromosome | ECO:0000250 | |
| Chromosome, centromere | ECO:0000250 | |
| Nucleus | ECO:0000250 |
Showing 1 to 3 of 3 entries
Interactor | Variant | Drug
Phenotype
| HPO ID
| HPO name |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000072 | Hydroureter |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000083 | Renal insufficiency |
| HP:0000130 | Abnormality of the uterus |
| HP:0000175 | Cleft palate |
Showing 1 to 10 of 132 entries
Tissue and cell type
| Tissue
| Cell type
| Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Approved |
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | adipocytes | Low | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
Showing 1 to 10 of 66 entries
Disease
| Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
|---|---|---|---|---|---|
| cornelia de lange syndrome 3 | MONDO:0012555 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:610759 |
Showing 1 to 1 of 1 entries