Protein family
Protein sequence
Protein function
The protein has not 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 |
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 |
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 |
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 |
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 |
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 ii | MONDO:0009673 | G12 | chapter6, Diseases of the nervous system | OMIM:253550 | Orphanet:83418 |
spinal muscular atrophy, type iii | MONDO:0009672 | G12 | chapter6, Diseases of the nervous system | OMIM:253400 | Orphanet:83419 |
spinal muscular atrophy, type iv | MONDO:0010056 | G12 | chapter6, Diseases of the nervous system | OMIM:271150 | Orphanet:83420 |