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    MYC MYC proto-oncogene, bHLH transcription factor [ Homo sapiens (human) ]

    Gene ID: 4609, updated on 26-Jul-2021

    Summary

    Official Symbol
    MYCprovided by HGNC
    Official Full Name
    MYC proto-oncogene, bHLH transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:7553
    See related
    Ensembl:ENSG00000136997 MIM:190080
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRTL; MYCC; c-Myc; bHLHe39
    Summary
    This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in gall bladder (RPKM 49.6), esophagus (RPKM 44.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYC in Genome Data Viewer
    Location:
    8q24.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (127735434..127742951)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (128747680..128755197)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375754 Neighboring gene origin of replication upstream of MYC Neighboring gene cancer susceptibility 11 Neighboring gene PVT1 intron CAGE-defined low expression enhancer Neighboring gene microRNA 1204 Neighboring gene Pvt1 oncogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A common variant at 8q24.21 is associated with renal cell cancer.
    GeneReviews: Not available
    A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.
    GeneReviews: Not available
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    GeneReviews: Not available
    A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
    GeneReviews: Not available
    Burkitt lymphoma
    MedGen: C0006413 OMIM: 113970 GeneReviews: Not available
    Compare labs
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    GeneReviews: Not available
    Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.
    GeneReviews: Not available
    Genome-wide association scan for variants associated with early-onset prostate cancer.
    GeneReviews: Not available
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    GeneReviews: Not available
    Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.
    GeneReviews: Not available
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    GeneReviews: Not available
    Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
    GeneReviews: Not available
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    GeneReviews: Not available
    Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
    GeneReviews: Not available
    Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
    GeneReviews: Not available
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    GeneReviews: Not available
    Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates expression of c-Myc, Max, and 14-3-3epsilon proteins, and decreases phosphorylation of ATP-dependent tyrosine kinases (Akt) at Ser-473 in human mesangial cells (HMC) PubMed
    Tat tat HIV-1 Tat induces polyubiquitination of MYC due to relocalizing TRIM32 into the nucleus of human neural precursor cells PubMed
    tat SKIP recruits c-Myc and TRRAP to the HIV-1 Tat-activated LTR promoter. The c-Myc:TRRAP complex is repressive to HIV-1 transcription under UV stress PubMed
    tat HIV-1 Tat-activated expression of an LTR-driven CAT reporter is decreased by the presence of c-Myc in a dose-dependent fashion PubMed
    tat HIV-1 Tat upregulates c-myc transcription in certain B-cell lines, salivary gland cell lines, and A549 human bronco alveolar carcinoma cells PubMed
    matrix gag HIV-1 MA increases phosphorylation and the DNA-binding activity of CREB and c-Myc through activation of the cAMP/PKA and MEK/ERK signaling pathways. Both signaling pathways are synergistically activated upon co-stimulation through the CD19 receptor PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables E-box binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular iron ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to UV IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to drug IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in energy reserve metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in fibroblast apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of monocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of stress-activated MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in oxygen transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of mesenchymal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of metanephric cap mesenchymal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of telomerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein-DNA complex disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of somatic stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to drug IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to growth factor TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    myc proto-oncogene protein
    Names
    avian myelocytomatosis viral oncogene homolog
    class E basic helix-loop-helix protein 39
    myc-related translation/localization regulatory factor
    proto-oncogene c-Myc
    transcription factor p64
    v-myc avian myelocytomatosis viral oncogene homolog
    v-myc myelocytomatosis viral oncogene homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007161.2 RefSeqGene

      Range
      5798..12518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1397

    mRNA and Protein(s)

    1. NM_001354870.1NP_001341799.1  myc proto-oncogene protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC103819, EH335289, K02276, M13930
      Consensus CDS
      CCDS87627.1
      Related
      ENSP00000430235.2, ENST00000524013.2
      Conserved Domains (3) summary
      cd00083
      Location:369425
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      pfam01056
      Location:20359
      Myc_N; Myc amino-terminal region
      pfam02344
      Location:422452
      Myc-LZ; Myc leucine zipper domain
    2. NM_002467.6NP_002458.2  myc proto-oncogene protein isoform 1

      See identical proteins and their annotated locations for NP_002458.2

      Status: REVIEWED

      Source sequence(s)
      AC103819
      Consensus CDS
      CCDS6359.2
      UniProtKB/Swiss-Prot
      P01106
      UniProtKB/TrEMBL
      A0A087WVR4
      Related
      ENSP00000478887.2, ENST00000621592.8
      Conserved Domains (3) summary
      cd00083
      Location:370426
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      pfam01056
      Location:21360
      Myc_N; Myc amino-terminal region
      pfam02344
      Location:423453
      Myc-LZ; Myc leucine zipper domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      127735434..127742951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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