SQSTM1 wt Allele

Preferred Label : SQSTM1 wt Allele;

NCIt synonyms : OSIL; p60; PDB3; p62; p62B; ZIP3; A170; Sequestosome 1 wt Allele;

NCIt definition : Human SQSTM1 wild-type allele is located 5q35 and is approximately 32 kb in length. This allele, which encodes sequestosome-1 protein, plays a role in signal transduction. Mutation of the gene is associated with Paget disease of bone.;

NCIt note : A chromosomal translocation t(2;5)(p23;q35) that fuses this gene and the ALK gene is associated with diffuse large B-cell lymphoma. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

GenBank Accession Number : U46751;

Details

Origin ID

C101492;

UMLS CUI

C3539537;

OMIM relation
- Sequestosome 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
- 5q35 [NCIt concept]
gene_is_element_in_pathway
- IL1-Mediated Signaling Pathway [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
- Neurotrophic Factor-Mediated NTRK1 Signaling Pathway [NCIt concept]
- TNF Receptor Family Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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