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P04198

- MYCN_HUMAN

UniProt

P04198 - MYCN_HUMAN

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Protein

N-myc proto-oncogene protein

Gene
MYCN, BHLHE37, NMYC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May function as a transcription factor.

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. branching morphogenesis of an epithelial tube Source: Ensembl
  2. cartilage condensation Source: Ensembl
  3. embryonic digit morphogenesis Source: Ensembl
  4. embryonic skeletal system morphogenesis Source: Ensembl
  5. lung development Source: Ensembl
  6. negative regulation of astrocyte differentiation Source: Ensembl
  7. negative regulation of reactive oxygen species metabolic process Source: Ensembl
  8. positive regulation of cell death Source: Ensembl
  9. positive regulation of mesenchymal cell proliferation Source: Ensembl
  10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  11. regulation of transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiP04198.

Names & Taxonomyi

Protein namesi
Recommended name:
N-myc proto-oncogene protein
Alternative name(s):
Class E basic helix-loop-helix protein 37
Short name:
bHLHe37
Gene namesi
Name:MYCN
Synonyms:BHLHE37, NMYC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:7559. MYCN.

Subcellular locationi

GO - Cellular componenti

  1. chromatin Source: ProtInc
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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) [MIM:164280]: A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, mental retardation, 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti393 – 3931R → H in FGLDS1. 1 Publication
VAR_031952
Natural varianti393 – 3931R → S in FGLDS1. 1 Publication
VAR_031953
Natural varianti394 – 3941R → H in FGLDS1. 1 Publication
VAR_031954

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

MIMi164280. phenotype.
Orphaneti391641. Feingold syndrome type 1.
635. Neuroblastoma.
PharmGKBiPA31359.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 464464N-myc proto-oncogene proteinPRO_0000127323Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei261 – 2611Phosphoserine; by CK21 Publication
Modified residuei263 – 2631Phosphoserine; by CK21 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP04198.
PeptideAtlasiP04198.
PRIDEiP04198.

PTM databases

PhosphoSiteiP04198.

Expressioni

Developmental stagei

Expressed during fetal development.

Gene expression databases

ArrayExpressiP04198.
BgeeiP04198.
CleanExiHS_MYCN.
GenevestigatoriP04198.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with KDM5A, KDM5B and HUWE1.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AURKAO149657EBI-878369,EBI-448680
CDKN2AQ8N7263EBI-878369,EBI-625922
MAXP612444EBI-878369,EBI-751711
NMIQ132873EBI-878369,EBI-372942
SIRT1Q96EB63EBI-878369,EBI-1802965

Protein-protein interaction databases

BioGridi110698. 18 interactions.
IntActiP04198. 9 interactions.
MINTiMINT-1671085.
STRINGi9606.ENSP00000281043.

Structurei

3D structure databases

ProteinModelPortaliP04198.
SMRiP04198. Positions 382-460.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini381 – 43353bHLHAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni433 – 45422Leucine-zipperAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi262 – 27817Asp/Glu-rich (acidic)Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG83719.
HOGENOMiHOG000043075.
HOVERGENiHBG000472.
InParanoidiP04198.
KOiK09109.
OMAiGMICKNP.
OrthoDBiEOG7GJ6CX.
PhylomeDBiP04198.
TreeFamiTF106001.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR002418. Tscrpt_reg_Myc.
IPR012682. Tscrpt_reg_Myc_N.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
PF01056. Myc_N. 1 hit.
[Graphical view]
PIRSFiPIRSF001705. Myc_protein. 1 hit.
PRINTSiPR00044. LEUZIPPRMYC.
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P04198-1 [UniParc]FASTAAdd to Basket

« Hide

MPSCSTSTMP GMICKNPDLE FDSLQPCFYP DEDDFYFGGP DSTPPGEDIW    50
KKFELLPTPP LSPSRGFAEH SSEPPSWVTE MLLENELWGS PAEEDAFGLG 100
GLGGLTPNPV ILQDCMWSGF SAREKLERAV SEKLQHGRGP PTAGSTAQSP 150
GAGAASPAGR GHGGAAGAGR AGAALPAELA HPAAECVDPA VVFPFPVNKR 200
EPAPVPAAPA SAPAAGPAVA SGAGIAAPAG APGVAPPRPG GRQTSGGDHK 250
ALSTSGEDTL SDSDDEDDEE EDEEEEIDVV TVEKRRSSSN TKAVTTFTIT 300
VRPKNAALGP GRAQSSELIL KRCLPIHQQH NYAAPSPYVE SEDAPPQKKI 350
KSEASPRPLK SVIPPKAKSL SPRNSDSEDS ERRRNHNILE RQRRNDLRSS 400
FLTLRDHVPE LVKNEKAAKV VILKKATEYV HSLQAEEHQL LLEKEKLQAR 450
QQQLLKKIEH ARTC 464
Length:464
Mass (Da):49,561
Last modified:July 1, 1989 - v2
Checksum:i560E885602E30DAD
GO

Sequence cautioni

The sequence AAA36371.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAA68678.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti393 – 3931R → H in FGLDS1. 1 Publication
VAR_031952
Natural varianti393 – 3931R → S in FGLDS1. 1 Publication
VAR_031953
Natural varianti394 – 3941R → H in FGLDS1. 1 Publication
VAR_031954

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti227 – 2271A → P in CAA27037. 1 Publication
Sequence conflicti363 – 3631I → V in CAA68678. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X03294 Genomic DNA. Translation: CAA27037.1.
X03295 Genomic DNA. Translation: CAA27038.1.
M13241 Genomic DNA. Translation: AAA36371.1. Different initiation.
M13228 Genomic DNA. Translation: AAA36370.1.
BT007384 mRNA. Translation: AAP36048.1.
AC010145 Genomic DNA. Translation: AAY14952.1.
CH471053 Genomic DNA. Translation: EAX00885.1.
CH471053 Genomic DNA. Translation: EAX00886.1.
CH471053 Genomic DNA. Translation: EAX00887.1.
CH471053 Genomic DNA. Translation: EAX00888.1.
BC002712 mRNA. Translation: AAH02712.1.
M18090 Genomic DNA. Translation: AAA59885.1.
X02363 Genomic DNA. No translation available.
Y00664 Genomic DNA. Translation: CAA68678.1. Different initiation.
CCDSiCCDS1687.1.
PIRiA01355. TVHUMC.
A25744. TVHUM2.
RefSeqiNP_005369.2. NM_005378.5.
UniGeneiHs.25960.

Genome annotation databases

EnsembliENST00000281043; ENSP00000281043; ENSG00000134323.
GeneIDi4613.
KEGGihsa:4613.
UCSCiuc002rci.3. human.

Polymorphism databases

DMDMi127604.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X03294 Genomic DNA. Translation: CAA27037.1 .
X03295 Genomic DNA. Translation: CAA27038.1 .
M13241 Genomic DNA. Translation: AAA36371.1 . Different initiation.
M13228 Genomic DNA. Translation: AAA36370.1 .
BT007384 mRNA. Translation: AAP36048.1 .
AC010145 Genomic DNA. Translation: AAY14952.1 .
CH471053 Genomic DNA. Translation: EAX00885.1 .
CH471053 Genomic DNA. Translation: EAX00886.1 .
CH471053 Genomic DNA. Translation: EAX00887.1 .
CH471053 Genomic DNA. Translation: EAX00888.1 .
BC002712 mRNA. Translation: AAH02712.1 .
M18090 Genomic DNA. Translation: AAA59885.1 .
X02363 Genomic DNA. No translation available.
Y00664 Genomic DNA. Translation: CAA68678.1 . Different initiation.
CCDSi CCDS1687.1.
PIRi A01355. TVHUMC.
A25744. TVHUM2.
RefSeqi NP_005369.2. NM_005378.5.
UniGenei Hs.25960.

3D structure databases

ProteinModelPortali P04198.
SMRi P04198. Positions 382-460.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110698. 18 interactions.
IntActi P04198. 9 interactions.
MINTi MINT-1671085.
STRINGi 9606.ENSP00000281043.

PTM databases

PhosphoSitei P04198.

Polymorphism databases

DMDMi 127604.

Proteomic databases

PaxDbi P04198.
PeptideAtlasi P04198.
PRIDEi P04198.

Protocols and materials databases

DNASUi 4613.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000281043 ; ENSP00000281043 ; ENSG00000134323 .
GeneIDi 4613.
KEGGi hsa:4613.
UCSCi uc002rci.3. human.

Organism-specific databases

CTDi 4613.
GeneCardsi GC02P016080.
GeneReviewsi MYCN.
H-InvDB HIX0117705.
HGNCi HGNC:7559. MYCN.
MIMi 164280. phenotype.
164840. gene.
neXtProti NX_P04198.
Orphaneti 391641. Feingold syndrome type 1.
635. Neuroblastoma.
PharmGKBi PA31359.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG83719.
HOGENOMi HOG000043075.
HOVERGENi HBG000472.
InParanoidi P04198.
KOi K09109.
OMAi GMICKNP.
OrthoDBi EOG7GJ6CX.
PhylomeDBi P04198.
TreeFami TF106001.

Enzyme and pathway databases

SignaLinki P04198.

Miscellaneous databases

GeneWikii N-Myc.
GenomeRNAii 4613.
NextBioi 17758.
PROi P04198.
SOURCEi Search...

Gene expression databases

ArrayExpressi P04198.
Bgeei P04198.
CleanExi HS_MYCN.
Genevestigatori P04198.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR002418. Tscrpt_reg_Myc.
IPR012682. Tscrpt_reg_Myc_N.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
PF01056. Myc_N. 1 hit.
[Graphical view ]
PIRSFi PIRSF001705. Myc_protein. 1 hit.
PRINTSi PR00044. LEUZIPPRMYC.
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Human N-myc is closely related in organization and nucleotide sequence to c-myc."
    Kohl N.E., Legouy E., DePinho R.A., Nisen P.D., Smith R.K., Gee C.E., Alt F.W.
    Nature 319:73-77(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Sequence of a germ-line N-myc gene and amplification as a mechanism of activation."
    Ibson J.M., Rabbitts P.H.
    Oncogene 2:399-402(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  8. "Alternative processing of RNA transcribed from NMYC."
    Stanton L.W., Bishop J.M.
    Mol. Cell. Biol. 7:4266-4272(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-40.
  9. "Identification and characterization of the protein encoded by the human N-myc oncogene."
    Slamon D.J., Boone T.C., Seeger R.C., Keith D.E., Chazin V., Lee H.C., Souza L.M.
    Science 232:768-772(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 71-464.
  10. "Nucleotide sequence of the 3' exon of the human N-myc gene."
    Michitsch R.W., Melera P.W.
    Nucleic Acids Res. 13:2545-2558(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 313-464.
  11. "Specific phosphorylation of the acidic central region of the N-myc protein by casein kinase II."
    Hagiwara T., Nakaya K., Nakamura Y., Nakajima H., Nishimura S., Taya Y.
    Eur. J. Biochem. 209:945-950(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-261 AND SER-263 BY CK2.
  12. "MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome."
    van Bokhoven H., Celli J., van Reeuwijk J., Rinne T., Glaudemans B., van Beusekom E., Rieu P., Newbury-Ecob R.A., Chiang C., Brunner H.G.
    Nat. Genet. 37:465-467(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FGLDS1 HIS-393; SER-393 AND HIS-394.
  13. Cited for: INVOLVEMENT IN FGLDS1.
  14. "The Trithorax group protein Lid is a trimethyl histone H3K4 demethylase required for dMyc-induced cell growth."
    Secombe J., Li L., Carlos L., Eisenman R.N.
    Genes Dev. 21:537-551(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KDM5A AND KDM5B.
  15. "The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein."
    Zhao X., Heng J.I.-T., Guardavaccaro D., Jiang R., Pagano M., Guillemot F., Iavarone A., Lasorella A.
    Nat. Cell Biol. 10:643-653(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HUWE1.

Entry informationi

Entry nameiMYCN_HUMAN
AccessioniPrimary (citable) accession number: P04198
Secondary accession number(s): Q53XS5, Q6LDT9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 1987
Last sequence update: July 1, 1989
Last modified: September 3, 2014
This is version 159 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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