Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| 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 |
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 |
| Biological Process | GO:0019827 | stem cell population maintenance |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0016887 | ATP hydrolysis activity |
| Molecular Function | GO:0048487 | beta-tubulin binding |
| Molecular Function | GO:0003682 | chromatin binding |
| Molecular Function | GO:0061775 | cohesin loader activity |
| Molecular Function | GO:0003690 | double-stranded DNA binding |
| Molecular Function | GO:0070840 | dynein complex binding |
| Molecular Function | GO:0036033 | mediator complex binding |
| Molecular Function | GO:0003777 | microtubule motor activity |
| Molecular Function | GO:0046982 | protein heterodimerization activity |
| Cellular Component | GO:0000785 | chromatin |
| Cellular Component | GO:0005694 | chromosome |
| Cellular Component | GO:0000775 | chromosome, centromeric region |
| Cellular Component | GO:0008278 | cohesin complex |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0000800 | lateral element |
| Cellular Component | GO:0030893 | meiotic cohesin complex |
| Cellular Component | GO:0097431 | mitotic spindle pole |
| Cellular Component | GO:0016363 | nuclear matrix |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| 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 |
| Pfam
|
Pfam name |
|---|---|
| PF02463 | RecF/RecN/SMC N terminal domain |
| PF06470 | SMC proteins Flexible Hinge Domain |
| 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 |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Chromosome | ECO:0000250 | |
| Chromosome, centromere | ECO:0000250 | |
| Nucleus | ECO:0000250 |
| 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 |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000233 | Thin vermilion border |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000294 | Low anterior hairline |
| HP:0000319 | Smooth philtrum |
| HP:0000324 | Facial asymmetry |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000400 | Macrotia |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000413 | Atresia of the external auditory canal |
| HP:0000414 | Bulbous nose |
| HP:0000426 | Prominent nasal bridge |
| HP:0000453 | Choanal atresia |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000482 | Microcornea |
| HP:0000486 | Strabismus |
| HP:0000498 | Blepharitis |
| HP:0000501 | Glaucoma |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000527 | Long eyelashes |
| HP:0000545 | Myopia |
| HP:0000574 | Thick eyebrow |
| HP:0000579 | Nasolacrimal duct obstruction |
| HP:0000639 | Nystagmus |
| HP:0000664 | Synophrys |
| HP:0000667 | Phthisis bulbi |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000687 | Widely spaced teeth |
| HP:0000691 | Microdontia |
| HP:0000717 | Autism |
| HP:0000722 | Compulsive behaviors |
| HP:0000739 | Anxiety |
| HP:0000767 | Pectus excavatum |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000786 | Primary amenorrhea |
| HP:0000823 | Delayed puberty |
| HP:0000954 | Single transverse palmar crease |
| HP:0000965 | Cutis marmorata |
| HP:0001007 | Hirsutism |
| HP:0001052 | Nevus flammeus |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001357 | Plagiocephaly |
| HP:0001385 | Hip dysplasia |
| HP:0001387 | Joint stiffness |
| HP:0001476 | Delayed closure of the anterior fontanelle |
| HP:0001508 | Failure to thrive |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001557 | Prenatal movement abnormality |
| HP:0001622 | Premature birth |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0001642 | Pulmonic stenosis |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001647 | Bicuspid aortic valve |
| HP:0001770 | Toe syndactyly |
| HP:0001773 | Short foot |
| HP:0001883 | Talipes |
| HP:0001956 | Truncal obesity |
| HP:0002007 | Frontal bossing |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002021 | Pyloric stenosis |
| HP:0002119 | Ventriculomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002162 | Low posterior hairline |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002230 | Generalized hirsutism |
| HP:0002360 | Sleep disturbance |
| HP:0002465 | Poor speech |
| HP:0002553 | Highly arched eyebrow |
| HP:0002557 | Hypoplastic nipples |
| HP:0002566 | Intestinal malrotation |
| HP:0002580 | Volvulus |
| HP:0002714 | Downturned corners of mouth |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002827 | Hip dislocation |
| HP:0002974 | Radioulnar synostosis |
| HP:0002983 | Micromelia |
| HP:0002996 | Limited elbow movement |
| HP:0003042 | Elbow dislocation |
| HP:0003196 | Short nose |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0005280 | Depressed nasal bridge |
| HP:0005484 | Secondary microcephaly |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0007665 | Curly eyelashes |
| HP:0008736 | Hypoplasia of penis |
| HP:0008850 | Severe postnatal growth retardation |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009237 | Short 5th finger |
| HP:0009623 | Proximal placement of thumb |
| HP:0009830 | Peripheral neuropathy |
| HP:0010034 | Short 1st metacarpal |
| HP:0010300 | Abnormally low-pitched voice |
| HP:0010864 | Intellectual disability, severe |
| HP:0010880 | Increased nuchal translucency |
| HP:0011230 | Laterally extended eyebrow |
| HP:0011451 | Primary microcephaly |
| HP:0012165 | Oligodactyly |
| HP:0012368 | Flat face |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| HP:0030820 | Hooded eyelid |
| HP:0040071 | Abnormal morphology of ulna |
| HP:0100543 | Cognitive impairment |
| HP:0100874 | Thick hair |
| HP:0200055 | Small hand |
| 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 |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Low | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebellum | cells in molecular layer | Low | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | glandular cells | Low | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | High | Approved |
| duodenum | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | Low | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | High | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Low | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | High | Approved |
| soft tissue 1 | fibroblasts | Medium | Approved |
| soft tissue 1 | peripheral nerve | Medium | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | High | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| 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 |