SEM1 wt Allele

Preferred Label : SEM1 wt Allele;

NCIt synonyms : Deleted In Split-Hand/Split-Foot 1 Region; SHSF1; SHFD1; SHFM1 wt Allele; ECD; Deleted in Split-Hand/Split-Foot 1 Region Gene; DSS1; SHFDG1; Split Hand/Foot Malformation (Ectrodactyly) Type 1 Gene; SHFM1; Chromosome 7 Open Reading Frame 76 Gene; C7orf76; Deleted in Split-Hand/Foot 1 Gene; Deleted In Split-Hand/Split-Foot 1 Gene; FLJ42280; SEM1, 26S Proteasome Complex Subunit Gene; SEM1 26S Proteasome Complex Subunit wt Allele;

NCIt definition : Human SEM1 wild-type allele is located in the vicinity of 7q21.3 and is approximately 228 kb in length. This allele, which encodes 26 proteasome complex subunit SEM1 protein, is involved in the mediation of protein degradation. The gene may play a role in split hand/split foot malformation.;

GenBank Accession Number : U41515;

Details

Origin ID

C52268;

UMLS CUI

C1705135;

Automatic exact mappings (from CISMeF team)
- Atrioventricular septal defect [OMIM Phenotype]
- Ecdysoneless cell cycle regulator [OMIM gene]
- Proteasome 26s subunit sem1 [OMIM gene]
- SEM1 26S proteasome subunit [ORDO Gene]
- Split-hand/foot malformation 1 [OMIM Phenotype]
- atrioventricular septal defect [DO Concept]
- electron capture detector [OBI concept]
- split hand-foot malformation 1 [DO Concept]
OMIM relation
- Proteasome 26s subunit sem1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q21.3 [NCIt concept]
gene_is_element_in_pathway
- Homologous Recombination Pathway [NCIt concept]
- Proteasome Pathway [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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