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P04198

- MYCN_HUMAN

UniProt

P04198 - MYCN_HUMAN

Protein

N-myc proto-oncogene protein

Gene

MYCN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 160 (01 Oct 2014)
      Sequence version 2 (01 Jul 1989)
      Previous versions | rss
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    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

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    DIPiDIP-36822N.
    IntActiP04198. 9 interactions.
    MINTiMINT-1671085.
    STRINGi9606.ENSP00000281043.

    Structurei

    3D structure databases

    ProteinModelPortaliP04198.
    SMRiP04198. Positions 382-460.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini381 – 43353bHLHPROSITE-ProRule annotationAdd
    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

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti227 – 2271A → P in CAA27037. (PubMed:3510398)Curated
    Sequence conflicti363 – 3631I → V in CAA68678. (PubMed:2834684)Curated

    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 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.
    DIPi DIP-36822N.
    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

    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: October 1, 2014
    This is version 160 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