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

Gene ID: 4609, updated on 29-Nov-2020

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

Genomic context

See MYC in Genome Data Viewer
Location:
8q24.21
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (127735434..127742951)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (128748315..128753680)

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
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription repressor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
PubMed 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
beta-catenin-TCF complex assembly TAS
Traceable Author Statement
more info
 
branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
cellular iron ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to UV IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to drug IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
chromosome organization IDA
Inferred from Direct Assay
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
energy reserve metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
fibroblast apoptotic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell division IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of fibroblast proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of monocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stress-activated MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxygen transport NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of DNA biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of fibroblast proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of mesenchymal cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of metanephric cap mesenchymal cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein-DNA complex disassembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
regulation of somatic stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
response to drug IEP
Inferred from Expression Pattern
more info
PubMed 
response to gamma radiation IDA
Inferred from Direct Assay
more info
PubMed 
response to growth factor TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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)

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
    ENSP00000430235.1, ENST00000524013.1
    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
    ENSP00000478887.1, ENST00000621592.7
    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 109.20201120

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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