About: RPN1 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • RPN1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 180470
GenBank_Accession_Number
  • NM_002950
Semantic_Type
  • Gene or Genome
Preferred_Name
  • RPN1 wt Allele
NCI_META_CUI
  • CL429803
EntrezGene_ID
  • 6184
HGNC_ID
  • HGNC:10381
FULL_SYN
  • Ribophorin I wt AlleleSYNCI
  • DKFZp686B16177SYNCI
  • RPN1 wt AllelePTNCI
  • OST1SYNCI
  • Oligosaccharyltransferase 1 Homolog (S. cerevisiae) GeneSYNCI
  • RBPH1SYNCI
DEFINITION
  • Human RPN1 wild-type allele is located in the vicinity of 3q21.3 and is approximately 61 kb in length. This allele, which encodes dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 protein, is involved in the regulation of protein glycosylation. A chromosomal aberration, either t(3;3)(q21;q26) or inv(3)(q21q26), of this gene and the MECOM gene is associated with acute myeloid leukemia.NCI
DesignNote
  • For both recombination events the pathological consequences may be the result of aberrant expression of the MECOM gene due to its juxtaposition with the enhancer of the constitutively expressed RPN1 gene. (Atlas of Genetics and Cytogenetics in Oncology and Haematology)
code
  • C97291
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