Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1G5V | SOLUTION STRUCTURE OF THE TUDOR DOMAIN OF THE HUMAN SMN PROTEIN | |
| 1MHN | 1.8 | High resolution crystal structure of the SMN Tudor domain |
| 2LEH | Solution structure of the core SMN-Gemin2 complex | |
| 4A4E | Solution structure of SMN Tudor domain in complex with symmetrically dimethylated arginine | |
| 4A4G | Solution structure of SMN Tudor domain in complex with asymmetrically dimethylated arginine | |
| 4GLI | 1.903 | Crystal Structure of Human SMN YG-Dimer |
| 4QQ6 | 1.75 | Crystal Structure of tudor domain of SMN1 in complex with a small organic molecule |
| 5XJL | 2.5 | Crystal Structure of the Gemin2-binding domain of SMN, Gemin2 in Complex with SmD1/D2/F/E/G from Human |
| 5XJQ | 3.28 | Crystal Structure of the Gemin2-binding domain of SMN, Gemin2 in Complex with SmD1(1-82)/D2/F/E/G from Human |
| 5XJR | 3.12 | Crystal Structure of the Gemin2-binding domain of SMN, Gemin2dN39 in Complex with SmD1(1-82)/D2/F/E/G from Human |
| 5XJS | 3.38 | Crystal Structure of the Gemin2-binding domain of SMN, Gemin2dN39 in Complex with SmD1(1-82)/D2/F/E from Human |
| 5XJT | 2.92 | Crystal Structure of the Gemin2-binding domain of SMN, Gemin2 in Complex with SmD1(1-82)/D2.R61A/F/E/G from Human |
| 5XJU | 2.58 | Crystal Structure of the Gemin2-binding domain of SMN, Gemin2dN39 in Complex with SmD1(1-82)/D2.R61A/F/E/G from Human |
| 7W2P | 1.15 | Tudor domain of SMN in complex with a small molecule |
| 7W30 | 1.8 | Tudor domain of SMN in complex with a small molecule |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006353 | DNA-templated transcription termination |
| Biological Process | GO:0007399 | nervous system development |
| Biological Process | GO:0000245 | spliceosomal complex assembly |
| Biological Process | GO:0000387 | spliceosomal snRNP assembly |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Cellular Component | GO:0015030 | Cajal body |
| Cellular Component | GO:0097504 | Gemini of coiled bodies |
| Cellular Component | GO:0032797 | SMN complex |
| Cellular Component | GO:0034719 | SMN-Sm protein complex |
| Cellular Component | GO:0030018 | Z disc |
| Cellular Component | GO:0030424 | axon |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0036464 | cytoplasmic ribonucleoprotein granule |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0043005 | neuron projection |
| Cellular Component | GO:0016604 | nuclear body |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0043204 | perikaryon |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-191859 | snRNP Assembly | Leaf | R-HSA-8953854 | Metabolism of RNA |
| R-HSA-9754678 | SARS-CoV-2 modulates host translation machinery | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell projection, axon | ECO:0000250 | |
| Cell projection, neuron projection | ECO:0000269 | PubMed:18093976 |
| Cytoplasm | ECO:0000305 | PubMed:11283611 |
| Cytoplasm | ECO:0000305 | PubMed:12067652 |
| Cytoplasm | ECO:0000305 | PubMed:8670859 |
| Cytoplasm, myofibril, sarcomere, Z line | ECO:0000250 | |
| Cytoplasmic granule | ECO:0000269 | PubMed:14715275 |
| Nucleus, Cajal body | ECO:0000305 | PubMed:11283611 |
| Nucleus, Cajal body | ECO:0000305 | PubMed:12067652 |
| Nucleus, Cajal body | ECO:0000305 | PubMed:21072240 |
| Nucleus, gem | ECO:0000305 | PubMed:11283611 |
| Nucleus, gem | ECO:0000305 | PubMed:12067652 |
| Nucleus, gem | ECO:0000305 | PubMed:8670859 |
| Perikaryon | ECO:0000269 | PubMed:18093976 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001265 | Hyporeflexia |
| HP:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001308 | Tongue fasciculations |
| HP:0001324 | Muscle weakness |
| HP:0001558 | Decreased fetal movement |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0002093 | Respiratory insufficiency |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002378 | Hand tremor |
| HP:0002398 | Degeneration of anterior horn cells |
| HP:0002421 | Poor head control |
| HP:0002505 | Loss of ambulation |
| HP:0002515 | Waddling gait |
| HP:0002522 | Areflexia of lower limbs |
| HP:0002878 | Respiratory failure |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003394 | Muscle spasm |
| HP:0003438 | Absent Achilles reflex |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003445 | EMG: neuropathic changes |
| HP:0003457 | EMG abnormality |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0003623 | Neonatal onset |
| HP:0003676 | Progressive |
| HP:0003677 | Slowly progressive |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003713 | Muscle fiber necrosis |
| HP:0003724 | Shoulder girdle muscle atrophy |
| HP:0003749 | Pelvic girdle muscle weakness |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0003805 | Rimmed vacuoles |
| HP:0003819 | Death in childhood |
| HP:0006844 | Absent patellar reflexes |
| HP:0007126 | Proximal amyotrophy |
| HP:0007269 | Spinal muscular atrophy |
| HP:0007289 | Limb fasciculations |
| HP:0007340 | Lower limb muscle weakness |
| HP:0008946 | Pelvic girdle amyotrophy |
| HP:0008956 | Proximal lower limb amyotrophy |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0009050 | Quadriceps muscle atrophy |
| HP:0011462 | Young adult onset |
| HP:0025708 | Early young adult onset |
| HP:0034045 | Angulated muscle fibers |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| spinal muscular atrophy, type 1 | MONDO:0009669 | G12 | chapter6, Diseases of the nervous system | OMIM:253300 | Orphanet:83330 |
| spinal muscular atrophy, type iii | MONDO:0009672 | G12 | chapter6, Diseases of the nervous system | OMIM:253400 | Orphanet:83419 |
| spinal muscular atrophy, type ii | MONDO:0009673 | G12 | chapter6, Diseases of the nervous system | OMIM:253550 | Orphanet:83418 |
| spinal muscular atrophy, type iv | MONDO:0010056 | G12 | chapter6, Diseases of the nervous system | OMIM:271150 | Orphanet:83420 |