RABEP1 wt Allele

Preferred Label : RABEP1 wt Allele;

NCIt synonyms : Neurocrescin Gene; RAB5EP; Rabaptin, RAB GTPase Binding Effector Protein 1 wt Allele; RABPT5; RABPT5A;

NCIt definition : Human RABEP1 wild-type allele is located in the vicinity of 17p13.2 and is approximately 104 kb in length. This allele, which encodes Rab GTPase-binding effector protein 1, plays a role in the modulation of both endocytosis and Rab GTPase activity. A chromosomal translocation t(5;17)(q33;p13) of this gene and the PDGFRB gene is associated with chronic myelomonocytic leukemia.;

GenBank Accession Number : AF098638;

Details

Origin ID

C97752;

UMLS CUI

C3273606;

OMIM relation
- Rabaptin, rab gtpase-binding effector 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
- 17p13.2 [NCIt concept]
gene_is_element_in_pathway
- Endocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Endocytotic Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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