Survival Motor Neuron Protein

Preferred Label : Survival Motor Neuron Protein;

NCIt synonyms : Gemin-1; Component of Gems 1;

NCIt definition : Survival motor neuron protein (294 aa, 32 kDa) is encoded by the human SMN1 and SMN2 genes. This protein plays a role in the assembly of small nuclear ribonucleoproteins.;

Details

Origin ID

C127871;

UMLS CUI

C4283935;

Automatic exact mappings (from CISMeF team)
- survival of motor neuron 1, telomeric [ORDO Gene]
- survival of motor neuron 1, telomeric [HGNC gene]
- survival of motor neuron 2, centromeric [ORDO Gene]
OMIM relation
- Survival of motor neuron 1 [OMIM gene]
- Survival of motor neuron 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Regulatory Gene [NCIt concept]
- SMN1 Gene [NCIt concept]
- SMN2 Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
- Nucleoplasm [NCIt concept]
- Sarcomere [NCIt concept]
gene_product_has_structural_domain_or_motif
- Proline-Rich Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Protein-Protein Interaction [NCIt concept]
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

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