SEM1 Gene - CISMeF

Preferred Label : SEM1 Gene;

NCIt synonyms : DSS1; SHFM1; SHFM1 Gene; SEM1 26S Proteasome Complex Subunit Gene;

NCIt related terms : SEM1;

CISMeF acronym : SEM1;

NCIt definition : This gene is involved in the ATP-dependent degradation of ubiquitinated proteins.;

Details

Origin ID

C20916;

UMLS CUI

C1335823;

Automatic exact mappings (from CISMeF team)
- Proteasome 26s subunit sem1 [OMIM gene]
- SEM1 26S proteasome subunit [ORDO Gene]
- Split-hand/foot malformation 1 [OMIM Phenotype]
- split hand-foot malformation 1 [DO Concept]
HGNC gene
- SEM1 26S proteasome subunit [HGNC gene]
OMIM relation
- Proteasome 26s subunit sem1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Proteasome 26s subunit sem1 [OMIM gene]
- SEM1 26S proteasome subunit [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- 26S Proteasome Complex Subunit SEM1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious SEM1 Gene Mutation [NCIt concept]
- SEM1 Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Split-Hand/Foot Malformation Type 1 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Limb Development [NCIt concept]
- Protein Degradation Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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