Splicing Factor 3B Subunit 1

Preferred Label : Splicing Factor 3B Subunit 1;

NCIt synonyms : SAP 155; Spliceosome-Associated Protein 155; SF3b155; Pre-mRNA-Splicing Factor SF3b 155 kDa Subunit; SF3B1; SAP155;

NCIt definition : Splicing factor 3B subunit 1 (1304 aa, 146 kDa) is encoded by the human SF3B1 gene. This protein is involved in the structure of the spliceosome.;

Details

Origin ID

C98286;

UMLS CUI

C3887983;

OMIM relation
- Splicing factor 3b, subunit 1 [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]
- SF3B1 Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- Scaffolding Protein [NCIt concept]
gene_product_has_gene_product_variant
- SF3B1 NP_036565.2:p.A774X [NCIt concept]
- SF3B1 NP_036565.2:p.D781X [NCIt concept]
- SF3B1 NP_036565.2:p.E622X [NCIt concept]
- SF3B1 NP_036565.2:p.G740X [NCIt concept]
- SF3B1 NP_036565.2:p.G742X [NCIt concept]
- SF3B1 NP_036565.2:p.H662X [NCIt concept]
- SF3B1 NP_036565.2:p.I704X [NCIt concept]
- SF3B1 NP_036565.2:p.K666X [NCIt concept]
- SF3B1 NP_036565.2:p.K700X [NCIt concept]
- SF3B1 NP_036565.2:p.K741X [NCIt concept]
- SF3B1 NP_036565.2:p.N626X [NCIt concept]
- SF3B1 NP_036565.2:p.R625X [NCIt concept]
- SF3B1 NP_036565.2:p.T663X [NCIt concept]
- SF3B1 NP_036565.2:p.V701X [NCIt concept]
- SF3B1 NP_036565.2:p.Y623X [NCIt concept]
- SF3B1 Protein Variant [NCIt concept]
gene_product_is_element_in_pathway
- Spliceosome Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- RNA Splicing [NCIt concept]
is_target
- Splicing Inhibitor H3B-8800 [NCIt concept]

Keyword's position in hierarchy(ies) :

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