SENP1 wt Allele

Preferred Label : SENP1 wt Allele;

NCIt synonyms : SUMO1/Sentrin Specific Peptidase 1 wt Allele; SuPr-2;

NCIt definition : Human SENP1 wild-type allele is located in the vicinity of 12q13.1 and is approximately 63 kb in length. This allele, which encodes sentrin-specific protease 1 protein, plays a role in both protein desumoylation and the positive regulation of apoptosis. A patient with infantile sacrococcygeal teratoma was found to have a balanced chromosomal translocation t(12;15)(q13;q25) which fuses this gene and the MESDC2 gene.;

GenBank Accession Number : AF149770;

Details

Origin ID

C98062;

UMLS CUI

C3273793;

OMIM relation
- Sentrin-specific protease family, member 1 [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
- 12q13.1 [NCIt concept]
gene_is_element_in_pathway
- Androgen Receptor Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Caspase Activation [NCIt concept]
- Caspase-Dependent Apoptosis [NCIt concept]
- Hydrolysis [NCIt concept]
- Post-Translational Modification [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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