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N-myc proto-oncogene protein (MYCN, NMYC)

Function: - may function as a transcription factor - efficient DNA binding requires dimerization with another bHLH protein - binds DNA as an heterodimer with MAX - interacts with JARID1A & JARID1B Structure: contains 1 basic helix-loop-helix (bHLH) domain Compartment: nucleus Expression: expressed during fetal development Pathology: - defects in MYCN are the cause of Feingold syndrome - defects in MYCN are the cause of microcephaly & digital abnormalities with normal intelligence - amplification seen in neuroblastomas & other malignancies; amplification appears to increase as a tumor progresses

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N-myc proto-oncogene

General

myc protein family phosphoprotein proto oncogene protein

Properties

SIZE: entity length = 464 aa MW = 50 kD COMPARTMENT: cell nucleus MOTIF: Thr phosphorylation site {T58} Ser phosphorylation site {S62} Ser phosphorylation site {S261} acidic region {262-278} MOTIF: acidic residue (SEVERAL) Ser phosphorylation site {S263} DNA-binding motif SITE: 381-394 helix-loop-helix NAME: helix-loop-helix SITE: 395-434 FOR-BINDING-VIA: helix-loop-helix leucine zipper SITE: 433-454 FOR-BINDING-VIA: leucine zipper

Database Correlations

OMIM correlations MORBIDMAP 164840 UniProt P04198 PFAM correlations Entrez Gene 4613 Kegg hsa:4613

References

  1. Dwarki VJ, Montminy M, Verma IM. Both the basic region and the 'leucine zipper' domain of the cyclic AMP response element binding (CREB) protein are essential for transcriptional activation. EMBO J. 1990 Jan;9(1):225-32. PMID: 2136830
  2. Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/NMYC112.html
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCN
  4. UniProt :accession P04198