PACS1 wt Allele

Preferred Label : PACS1 wt Allele;

NCIt synonyms : FLJ10209; KIAA1175; Phosphofurin Acidic Cluster Sorting Protein 1 wt Allele; MRD17;

NCIt definition : Human PACS1 wild-type allele is located within 11q13.1-q13.2 and is approximately 174 kb in length. This allele, which encodes phosphofurin acidic cluster sorting protein 1, plays a role in targeting proteins to the Golgi. Mutation of the gene is associated with autosomal dominant mental retardation 17.;

NCIt note : There is a report of a chromosomal aberration involving the RBM14 gene and the PACS1 gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : AB033001;

Details

Origin ID

C114564;

UMLS CUI

C3889454;

Automatic exact mappings (from CISMeF team)
- Schuurs-Hoeijmakers Syndrome [DO Concept]
- Schuurs-hoeijmakers syndrome [OMIM Phenotype]
- phosphofurin acidic cluster sorting protein 1 [ORDO Gene]
OMIM relation
- Phosphofurin acidic cluster sorting protein 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
- 11q13.1-q13.2 [NCIt concept]
gene_plays_role_in_process
- Antiviral Response [NCIt concept]
- Golgi Targeting [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Membrane Protein Traffic [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients