Lysosomal-Trafficking Regulator

Preferred Label : Lysosomal-Trafficking Regulator;

NCIt synonyms : CHS1 Protein; CHS1; Beige Protein; Chediak-Higashi Syndrome 1; Beige Homolog; Lysosomal Trafficking Regulator; LYST;

NCIt definition : Lysosomal-trafficking regulator (3801 aa, 429 kDa) is encoded by the human LYST gene. This protein may be involved in intracellular protein trafficking.;

NCIt note : Lysosomal-trafficking regulator has 1 beach domain and 7 WD domains. (UniProt);

Details

Origin ID

C25970;

UMLS CUI

C0531296;

Automatic exact mappings (from CISMeF team)
- Cohen syndrome [OMIM Phenotype]
- Lysosomal trafficking regulator [OMIM gene]
- lysosomal trafficking regulator [HGNC gene]
- lysosomal trafficking regulator [ORDO Gene]
- vacuolar protein sorting 13 homolog B [ORDO Gene]
OMIM relation
- Lysosomal trafficking regulator [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- LYST Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_expressed_in_tissue
- Bone Marrow [NCIt concept]
- Brain [NCIt concept]
- Leukocyte [NCIt concept]
- Thymus Gland [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Cytoplasm [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- WD Repeat [NCIt concept]
gene_product_malfunction_associated_with_disease
- Chediak-Higashi Syndrome [NCIt concept]
gene_product_plays_role_in_biological_process
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
- Vacuolar Protein Sorting [NCIt concept]

Keyword's position in hierarchy(ies) :

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