| Gene Information | |
|---|---|
| Gene Name | SMN |
| Organism | Homo sapiens (Human) |
| Gene Length | 294 |
| Protein Names | Survival motor neuron protein (Component of gems 1) (Gemin-1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q16637 |
| Gene Card | SMN1;SMN2 |
| Uniprot ID | Q16637 |
| Pfam | PF06003 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level). {ECO:0000269|PubMed:11551898, ECO:0000269|PubMed:9259265}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.096000(Rat);0.034783(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1G5V (NMR - ) 1MHN (X-ray 1.80A ) 2LEH (NMR - ) 4A4E (NMR - ) 4A4G (NMR - ) 4GLI (X-ray 1.90A ) 4QQ6 (X-ray 1.75A ) 5XJL (X-ray 2.50A ) 5XJQ (X-ray 3.28A ) 5XJR (X-ray 3.12A ) 5XJS (X-ray 3.38A ) 5XJT (X-ray 2.92A ) 5XJU (X-ray 2.58A ) |
| DBSNP | rs75030631 rs104893930 rs104893931 rs104893927 rs104893935 rs104893933 rs104893934 rs75586164 rs104893932 rs75660264 rs104893922 rs76871093 rs77301881 rs77969175 rs76163360 |
| Subcellular location [CC] | Nucleus, gem {ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:8670859, ECO:0000305|PubMed:12067652}. Nucleus, Cajal body {ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:21072240, ECO:0000305|PubMed:12067652}. Cytoplasm {ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:8670859, ECO:0000305|PubMed:12067652}. Cytoplasmic granule {ECO:0000269|PubMed:14715275}. Perikaryon {ECO:0000269|PubMed:18093976}. Cell projection, neuron projection {ECO:0000269|PubMed:18093976}. Cell projection, axon {ECO:0000250|UniProtKB:P97801}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:P97801}. Note=Colocalizes with actin and at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules (PubMed:14715275). Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies (PubMed:11283611). Colocalizes with FMR1 in cytoplasmic granules in the soma and neurite cell processes (PubMed:18093976). {ECO:0000250|UniProtKB:P97801, ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:14715275, ECO:0000269|PubMed:18093976}. |
| Mouse PG classification | NA |
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