About: RABEP1 wt Allele     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • RABEP1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 603616
GenBank_Accession_Number
  • AF098638
Semantic_Type
  • Gene or Genome
Preferred_Name
  • RABEP1 wt Allele
NCI_META_CUI
  • CL430352
EntrezGene_ID
  • 9135
HGNC_ID
  • HGNC:17677
FULL_SYN
  • RABEP1 wt AllelePTNCI
  • Rabaptin, RAB GTPase Binding Effector Protein 1 wt AlleleSYNCI
  • Neurocrescin GeneSYNCI
  • RAB5EPSYNCI
  • RABPT5SYNCI
  • RABPT5ASYNCI
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.NCI
code
  • C97752
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