Recombinant Human N-myc proto-oncogene protein (MYCN)

Function

Positively regulates the transcription of MYCNOS in neuroblastoma cells

Subcellular Location

Nucleus

Disease Association

[Amplification of the N-MYC gene is associated with a variety of human tumors, most frequently neuroblastoma, where the level of amplification appears to increase as the tumor progresses] | Feingold syndrome 1 (FGLDS1) : A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, intellectual disability, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. [The disease is caused by variants affecting the gene represented in this entry] | Megalencephaly-polydactyly syndrome (MPAPA) : An autosomal dominant syndrome characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and increased risk of neuroblastoma. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in the neuronal cells of the cerebrum, neuroblastomas and thyroid tumors (at protein level)

Subunit

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with KDM5A, KDM5B and HUWE1. Interacts with MYCNOS. Interacts with AURKA; interaction is phospho-independent and triggers AURKA activation; AURKA competes with FBXW7 for binding to unphosphorylated MYCN but not for binding to unphosphorylated MYCN (PubMed:27837025). Interacts with FBXW7; FBXW7 competes with AURKA for binding to unphosphorylated MYCN but not for binding to phosphorylated MYCN (PubMed:27837025)

• Stanton L.W. et al. Nucleotide sequence of the human N-myc gene. — Proc. Natl. Acad. Sci. U.S.A. (1986)
• Kohl N.E. et al. Human N-myc is closely related in organization and nucleotide sequence to c-myc. — Nature (1986)
• Ibson J.M. et al. Sequence of a germ-line N-myc gene and amplification as a mechanism of activation. — Oncogene (1988)
• Kalnine N. et al. Cloning of human full-length CDSs in BD Creator(TM) system donor vector. (MAY-)
• Hillier L.W. et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. — Nature (2005)
• Mural R.J. et al. PubMed: CI-56FT96O07V0QG (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Stanton L.W. et al. Alternative processing of RNA transcribed from NMYC. — Mol. Cell. Biol. (1987)