MYCN
entrez
4613
canonical
uniprot
P04198
canonical
ensembl
ENSG00000134323
resolver
ensp
ENSP00000281043
resolver
ensp
ENSP00000491476
resolver
ensp
ENSP00000555160
resolver
ensp
ENSP00000600254
resolver
ensp
ENSP00000600255
resolver
enst
ENST00000281043
resolver
enst
ENST00000638417
resolver
enst
ENST00000885101
resolver
enst
ENST00000930195
resolver
enst
ENST00000930196
resolver
genesymbol
MYCN
resolver
genesymbol_syn
BHLHE37
resolver
genesymbol_syn
NMYC
resolver
hgnc
HGNC:7559
resolver
uniprot
A0A1W2PPD9
resolver
uniprot
Q53XS5
resolver
uniprot
Q6LDT9
resolver
uniprot
Q9H224
resolver
uniprot_entry
A0A1W2PPD9_HUMAN
resolver
uniprot_entry
MYCN_HUMAN
resolver
uniprot_entry
Q9H224_HUMAN
resolver
uniprot_sec
Q53XS5
resolver
uniprot_sec
Q6LDT9
resolver
amino_acid_sequence
MPSCSTSTMPGMICKNPDLEFDSLQPCFYPDEDDFYFGGPDSTPPGEDIWKKFELLPTPPLSPSRGFAEHSSEPPSWVTEMLLENELWGSPAEEDAFGLGGLGGLTPNPVILQDCMWSGFSAREKLERAVSEKLQHGRGPPTAGSTAQSPGAGAASPAGRGHGGAAGAGRAGAALPAELAHPAAECVDPAVVFPFPVNKREPAPVPAAPASAPAAGPAVASGAGIAAPAGAPGVAPPRPGGRQTSGGDHKALSTSGEDTLSDSDDEDDEEEDEEEEIDVVTVEKRRSSSNTKAVTTFTITVRPKNAALGPGRAQSSELILKRCLPIHQQHNYAAPSPYVESEDAPPQKKIKSEASPRPLKSVIPPKAKSLSPRNSDSEDSERRRNHNILERQRRNDLRSSFLTLRDHVPELVKNEKAAKVVILKKATEYVHSLQAEEHQLLLEKEKLQARQQQLLKKIEHARTC
uniprot
proteins
disease_involvement
DISEASE: Note=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. {ECO:0000269|PubMed:2834684}.; DISEASE: Feingold syndrome 1 (FGLDS1) [MIM:164280]: 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. {ECO:0000269|PubMed:15821734, ECO:0000269|PubMed:16906565}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Megalencephaly-polydactyly syndrome (MPAPA) [MIM:620748]: An autosomal dominant syndrome characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and increased risk of neuroblastoma. {ECO:0000269|PubMed:30573562, ECO:0000269|PubMed:37710961}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Positively regulates the transcription of MYCNOS in neuroblastoma cells. {ECO:0000269|PubMed:24391509}.
uniprot
proteins
mass_dalton
49561
uniprot
proteins
mutagenesis
MUTAGEN 28; /note="F->A: Reduces interaction with AURKA; when associated with A-35."; /evidence="ECO:0000269|PubMed:27837025"; MUTAGEN 29; /note="Y->A: Reduces interaction with AURKA; when associated with A-36."; /evidence="ECO:0000269|PubMed:27837025"; MUTAGEN 35; /note="F->A: Reduces interaction with AURKA; when associated with A-28."; /evidence="ECO:0000269|PubMed:27837025"; MUTAGEN 36; /note="Y->A: Reduces interaction with AURKA; when associated with A-29."; /evidence="ECO:0000269|PubMed:27837025"; MUTAGEN 52..56; /note="KFELL->AAAAA: Does not affect AURKA binding."; /evidence="ECO:0000269|PubMed:27837025"; MUTAGEN 73; /note="E->K: Reduces binding to AURKA."; /evidence="ECO:0000269|PubMed:27837025"; MUTAGEN 77; /note="W->A: Reduces binding to AURKA."; /evidence="ECO:0000269|PubMed:27837025"; MUTAGEN 88; /note="W->A: Abrogates the interaction with AURKA."; /evidence="ECO:0000269|PubMed:27837025
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by GSK3-beta which may promote its degradation (PubMed:24391509). Phosphorylated by AURKA (PubMed:27837025). {ECO:0000269|PubMed:24391509, ECO:0000269|PubMed:27837025}.
uniprot
proteins
pubmed
1425701
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15821734
uniprot
proteins
pubmed
16906565
uniprot
proteins
pubmed
17311883
uniprot
proteins
pubmed
18488021
uniprot
proteins
pubmed
24391509
uniprot
proteins
pubmed
27837025
uniprot
proteins
pubmed
2834684
uniprot
proteins
pubmed
2869488
uniprot
proteins
pubmed
2987858
uniprot
proteins
pubmed
3008339
uniprot
proteins
pubmed
30573562
uniprot
proteins
pubmed
34342803
uniprot
proteins
pubmed
3437890
uniprot
proteins
pubmed
3510398
uniprot
proteins
pubmed
37710961
uniprot
proteins
sequence_length
464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins