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Protein

Myc proto-oncogene protein

Gene

MYC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis (PubMed:24940000).2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000136997-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promoters
R-HSA-5687128 MAPK6/MAPK4 signaling
R-HSA-5689880 Ub-specific processing proteases
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
R-HSA-69202 Cyclin E associated events during G1/S transition
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry
R-HSA-8866911 TFAP2 (AP-2) family regulates transcription of cell cycle factors
R-HSA-8951430 RUNX3 regulates WNT signaling
R-HSA-9018519 Estrogen-dependent gene expression

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P01106

SIGNOR Signaling Network Open Resource

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SIGNORi
P01106

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Myc proto-oncogene protein
Alternative name(s):
Class E basic helix-loop-helix protein 39
Short name:
bHLHe39
Proto-oncogene c-Myc
Transcription factor p64
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MYC
Synonyms:BHLHE39
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000136997.15

Human Gene Nomenclature Database

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HGNCi
HGNC:7553 MYC

Online Mendelian Inheritance in Man (OMIM)

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MIMi
190080 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P01106

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A chromosomal aberration involving MYC may be a cause of a form of B-cell chronic lymphocytic leukemia. Translocation t(8;12)(q24;q22) with BTG1.1 Publication
Burkitt lymphoma (BL)2 Publications
The gene represented in this entry is involved in disease pathogenesis. Chromosomal aberrations involving MYC are usually found in Burkitt lymphoma. Translocations t(8;14), t(8;22) or t(2;8) which juxtapose MYC to one of the heavy or light chain immunoglobulin gene loci.
Disease descriptionA form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.
See also OMIM:113970

<p>This subsection of the ‘Pathology and Biotech’ section describes the use of a specific protein in the biotechnological industry.<p><a href='/help/biotechnological_use' target='_top'>More...</a></p>Biotechnological usei

POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi58T → A: Impairs interaction with FBXW7 and subsequent degradation by the proteasome. Normal inhibition of Ras-induced senescence. 4 Publications1
Mutagenesisi62S → A: Impairs interaction with FBXW7 and subsequent degradation by the proteasome. Impaired inhibition of Ras-induced senescence. Abolishes phosphorylation by DYRK2, and subsequent phosphorylation by GSK3B at Thr-58. 5 Publications1

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNET

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DisGeNETi
4609

MalaCards human disease database

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MalaCardsi
MYC
MIMi113970 phenotype

Open Targets

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OpenTargetsi
ENSG00000136997

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
543 Burkitt lymphoma
480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
99861 Precursor T-cell acute lymphoblastic leukemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31353

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1250348

Drug and drug target database

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DrugBanki
DB08813 Nadroparin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MYC

Domain mapping of disease mutations (DMDM)

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DMDMi
127619

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001272931 – 439Myc proto-oncogene proteinAdd BLAST439

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei6PhosphoserineCombined sources1
Modified residuei8Phosphothreonine; by RAF; in vitro1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki52Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei58Phosphothreonine; by GSK3; alternateCombined sources3 Publications1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>GlycosylationiCAR_00003358O-linked (GlcNAc) threonine; alternate1 Publication1
Modified residuei62Phosphoserine; by DYRK2, GSK3 and CDK2Combined sources6 Publications1
Modified residuei71PhosphoserineCombined sources1
Modified residuei143N6-acetyllysine; by PCAF; alternate1 Publication1
Cross-linki143Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei148N6-acetyllysine; alternateCombined sources1
Cross-linki148Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei157N6-acetyllysine; by PCAF1 Publication1
Modified residuei161PhosphoserineCombined sources1
Modified residuei275N6-acetyllysine; by PCAF1 Publication1
Modified residuei293PhosphoserineCombined sources1
Cross-linki298Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei317N6-acetyllysine; by PCAF1 Publication1
Modified residuei323N6-acetyllysine; by PCAF1 Publication1
Modified residuei329Phosphoserine; by PIM2; in vitroBy similarity1
Modified residuei371N6-acetyllysine; by PCAF1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by PRKDC. Phosphorylation at Ser-329 by PIM2 leads to the stabilization of MYC (By similarity). Phosphorylation at Ser-62 by CDK2 prevents Ras-induced senescence. Phosphorylated at Ser-62 by DYRK2; this primes the protein for subsequent phosphorylation by GSK3B at Thr-58. Phosphorylation at Thr-58 and Ser-62 by GSK3 is required for ubiquitination and degradation by the proteasome.By similarity6 Publications
Ubiquitinated by the SCF(FBXW7) complex when phosphorylated at Thr-58 and Ser-62, leading to its degradation by the proteasome. In the nucleoplasm, ubiquitination is counteracted by USP28, which interacts with isoform 1 of FBXW7 (FBW7alpha), leading to its deubiquitination and preventing degradation. In the nucleolus, however, ubiquitination is not counteracted by USP28 but by USP36, due to the lack of interaction between isoform 3 of FBXW7 (FBW7gamma) and USP28, explaining the selective MYC degradation in the nucleolus (PubMed:25775507,PubMed:17558397). Also polyubiquitinated by the DCX(TRUSS) complex. Ubiquitinated by TRIM6 in a phosphorylation-independent manner (By similarity).By similarity7 Publications

Keywords - PTMi

Acetylation, Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P01106

MaxQB - The MaxQuant DataBase

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MaxQBi
P01106

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P01106

PeptideAtlas

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PeptideAtlasi
P01106

PRoteomics IDEntifications database

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PRIDEi
P01106

ProteomicsDB human proteome resource

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ProteomicsDBi
51318
51319 [P01106-2]

2D gel databases

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

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SWISS-2DPAGEi
P01106

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
426

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P01106

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P01106

UniCarbKB; an annotated and curated database of glycan structures

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UniCarbKBi
P01106

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000136997 Expressed in 216 organ(s), highest expression level in thoracic mammary gland

CleanEx database of gene expression profiles

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CleanExi
HS_MYC

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P01106 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P01106 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB000084
CAB010307
HPA055893
HPA066556

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX (PubMed:9680483). Interacts with TAF1C and SPAG9. Interacts with PARP10. Interacts with KDM5A and KDM5B. Interacts (when phosphorylated at Thr-58 and Ser-62) with FBXW7(PubMed:25775507, PubMed:17558397). Interacts with PIM2. Interacts with RIOX1. The heterodimer MYC:MAX interacts with ABI1; the interaction may enhance MYC:MAX transcriptional activity. Interacts with TRIM6 (By similarity). Interacts with NPM1; the binary complex is recruited to the promoter of MYC target genes and enhances their transcription (PubMed:25956029). Interacts with CIP2A; leading to the stabilization of MYC (PubMed:17632056).By similarity11 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110694, 662 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1123 FOXO3-MYC complex
CPX-514 c-MYC-BIN1 complex
CPX-91 Transcriptional activator Myc-Max complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P01106

Database of interacting proteins

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DIPi
DIP-28143N

Protein interaction database and analysis system

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IntActi
P01106, 717 interactors

Molecular INTeraction database

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MINTi
P01106

STRING: functional protein association networks

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STRINGi
9606.ENSP00000367207

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P01106

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1439
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of protein disorder

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DisProti
DP00260

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P01106

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P01106

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P01106

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini354 – 406bHLHPROSITE-ProRule annotationAdd BLAST53

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni413 – 434Leucine-zipperAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi33 – 37Poly-Gln5
Compositional biasi88 – 91Poly-Gly4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFSM Eukaryota
ENOG41124Q3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155285

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000043075

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000472

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P01106

KEGG Orthology (KO)

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KOi
K04377

Database for complete collections of gene phylogenies

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PhylomeDBi
P01106

TreeFam database of animal gene trees

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TreeFami
TF106001

Family and domain databases

Conserved Domains Database

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CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR003327 Myc-LZ
IPR002418 Tscrpt_reg_Myc
IPR012682 Tscrpt_reg_Myc_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00010 HLH, 1 hit
PF02344 Myc-LZ, 1 hit
PF01056 Myc_N, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF001705 Myc_protein, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00044 LEUZIPPRMYC

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P01106-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPLNVSFTNR NYDLDYDSVQ PYFYCDEEEN FYQQQQQSEL QPPAPSEDIW
60 70 80 90 100
KKFELLPTPP LSPSRRSGLC SPSYVAVTPF SLRGDNDGGG GSFSTADQLE
110 120 130 140 150
MVTELLGGDM VNQSFICDPD DETFIKNIII QDCMWSGFSA AAKLVSEKLA
160 170 180 190 200
SYQAARKDSG SPNPARGHSV CSTSSLYLQD LSAAASECID PSVVFPYPLN
210 220 230 240 250
DSSSPKSCAS QDSSAFSPSS DSLLSSTESS PQGSPEPLVL HEETPPTTSS
260 270 280 290 300
DSEEEQEDEE EIDVVSVEKR QAPGKRSESG SPSAGGHSKP PHSPLVLKRC
310 320 330 340 350
HVSTHQHNYA APPSTRKDYP AAKRVKLDSV RVLRQISNNR KCTSPRSSDT
360 370 380 390 400
EENVKRRTHN VLERQRRNEL KRSFFALRDQ IPELENNEKA PKVVILKKAT
410 420 430
AYILSVQAEE QKLISEEDLL RKRREQLKHK LEQLRNSCA
Length:439
Mass (Da):48,804
Last modified:August 13, 1987 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iED5C028029A4C5D1
GO
Isoform 2 (identifier: P01106-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDFFRVVENQQPPATM

Note: Initiates from CTG codon.Curated
Show »
Length:454
Mass (Da):50,565
Checksum:i8B4107BB740689E5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WUS5A0A087WUS5_HUMAN
Myc proto-oncogene protein
MYC
454Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q14899Q14899_HUMAN
Myc proto-oncogene protein
MYC MRTL
114Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YBT0H0YBT0_HUMAN
Myc proto-oncogene protein
MYC
453Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WVR4A0A087WVR4_HUMAN
Myc proto-oncogene protein
MYC
454Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0B4J1R1A0A0B4J1R1_HUMAN
Myc proto-oncogene protein
MYC hCG_15917
257Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YBG3H0YBG3_HUMAN
Myc proto-oncogene protein
MYC
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q16591Q16591_HUMAN
Myc protein
MYC
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RGD7E5RGD7_HUMAN
Myc proto-oncogene protein
MYC
59Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti6 – 7SF → TI no nucleotide entry (PubMed:6419122).Curated2
Sequence conflicti10R → K no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti56L → LL no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti62S → P in CAA25288 (PubMed:6547209).Curated1
Sequence conflicti88G → D no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti92S → N no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti114S → N no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti120D → G no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti171C → S no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti203S → R no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti230S → A no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti240L → F no nucleotide entry (PubMed:6419122).Curated1
Sequence conflicti245P → S no nucleotide entry (PubMed:6419122).Curated1
Isoform 2 (identifier: P01106-2)
Sequence conflicti2D → N in BAA01374 (PubMed:6547209).Curated1
Sequence conflicti6V → E in BAA01374 (PubMed:6547209).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01632711N → S1 PublicationCorresponds to variant dbSNP:rs4645959Ensembl.1
Natural variantiVAR_06338439E → D in a Burkitt lymphoma symple. 2 PublicationsCorresponds to variant dbSNP:rs121918684Ensembl.1
Natural variantiVAR_06338557P → S in a Burkitt lymphoma sample. 1 PublicationCorresponds to variant dbSNP:rs28933407Ensembl.1
Natural variantiVAR_06338659P → A in a Burkitt lymphoma sample. 1 PublicationCorresponds to variant dbSNP:rs121918685Ensembl.1
Natural variantiVAR_06338786N → T in a Burkitt lymphoma sample. 1 PublicationCorresponds to variant dbSNP:rs121918683Ensembl.1
Natural variantiVAR_016328160G → C1 PublicationCorresponds to variant dbSNP:rs4645960Ensembl.1
Natural variantiVAR_016329170V → I1 PublicationCorresponds to variant dbSNP:rs4645961Ensembl.1
Natural variantiVAR_016330322A → V1 PublicationCorresponds to variant dbSNP:rs4645968Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0378131M → MDFFRVVENQQPPATM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L00058, L00057 Genomic DNA Translation: AAA59882.1
K00535, K00534 Genomic DNA Translation: AAA59880.1
K00535, K00534 Genomic DNA Translation: ABW69847.1
X00196, X00198 Genomic DNA Translation: CAA25015.2
X00364 Genomic DNA Translation: CAA25106.1
V00568 mRNA Translation: CAA23831.1
K01906, K01905 Genomic DNA Translation: AAA59881.1
K02276 mRNA Translation: AAA36340.1
X00676 Genomic DNA Translation: CAA25288.1
D10493 Genomic DNA Translation: BAA01374.2
D10493 Genomic DNA Translation: BAA01375.1
BT019768 mRNA Translation: AAV38573.1
AY214166 Genomic DNA Translation: AAO21131.1
AK312883 mRNA Translation: BAG35731.1
AC103819 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW92098.1
BC000141 mRNA Translation: AAH00141.2
BC000917 mRNA Translation: AAH00917.2
BC058901 mRNA Translation: AAH58901.2
M13929 mRNA Translation: AAA88092.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6359.2 [P01106-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A01349 TVHUM
A01350 TVHUT

NCBI Reference Sequences

More...
RefSeqi
NP_002458.2, NM_002467.4 [P01106-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.202453

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000377970; ENSP00000367207; ENSG00000136997 [P01106-1]
ENST00000613283; ENSP00000479618; ENSG00000136997 [P01106-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4609

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4609

UCSC genome browser

More...
UCSCi
uc064qdj.1 human [P01106-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs
Wikipedia

Myc entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L00058, L00057 Genomic DNA Translation: AAA59882.1
K00535, K00534 Genomic DNA Translation: AAA59880.1
K00535, K00534 Genomic DNA Translation: ABW69847.1
X00196, X00198 Genomic DNA Translation: CAA25015.2
X00364 Genomic DNA Translation: CAA25106.1
V00568 mRNA Translation: CAA23831.1
K01906, K01905 Genomic DNA Translation: AAA59881.1
K02276 mRNA Translation: AAA36340.1
X00676 Genomic DNA Translation: CAA25288.1
D10493 Genomic DNA Translation: BAA01374.2
D10493 Genomic DNA Translation: BAA01375.1
BT019768 mRNA Translation: AAV38573.1
AY214166 Genomic DNA Translation: AAO21131.1
AK312883 mRNA Translation: BAG35731.1
AC103819 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW92098.1
BC000141 mRNA Translation: AAH00141.2
BC000917 mRNA Translation: AAH00917.2
BC058901 mRNA Translation: AAH58901.2
M13929 mRNA Translation: AAA88092.1
CCDSiCCDS6359.2 [P01106-2]
PIRiA01349 TVHUM
A01350 TVHUT
RefSeqiNP_002458.2, NM_002467.4 [P01106-2]
UniGeneiHs.202453

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A93NMR-A406-434[»]
1EE4X-ray2.10C/D/E/F320-328[»]
1MV0NMR-A55-68[»]
1NKPX-ray1.80A/D353-434[»]
2A93NMR-A406-434[»]
2OR9X-ray2.70P410-419[»]
4Y7RX-ray1.90B260-267[»]
5I4ZX-ray1.95A/B350-439[»]
5I50X-ray2.70A/B350-439[»]
6C4UX-ray2.60G/H/I/J/K/L54-62[»]
DisProtiDP00260
ProteinModelPortaliP01106
SMRiP01106
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110694, 662 interactors
ComplexPortaliCPX-1123 FOXO3-MYC complex
CPX-514 c-MYC-BIN1 complex
CPX-91 Transcriptional activator Myc-Max complex
CORUMiP01106
DIPiDIP-28143N
IntActiP01106, 717 interactors
MINTiP01106
STRINGi9606.ENSP00000367207

Chemistry databases

BindingDBiP01106
ChEMBLiCHEMBL1250348
DrugBankiDB08813 Nadroparin

PTM databases

GlyConnecti426
iPTMnetiP01106
PhosphoSitePlusiP01106
UniCarbKBiP01106

Polymorphism and mutation databases

BioMutaiMYC
DMDMi127619

2D gel databases

SWISS-2DPAGEiP01106

Proteomic databases

EPDiP01106
MaxQBiP01106
PaxDbiP01106
PeptideAtlasiP01106
PRIDEiP01106
ProteomicsDBi51318
51319 [P01106-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4609
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377970; ENSP00000367207; ENSG00000136997 [P01106-1]
ENST00000613283; ENSP00000479618; ENSG00000136997 [P01106-2]
GeneIDi4609
KEGGihsa:4609
UCSCiuc064qdj.1 human [P01106-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4609
DisGeNETi4609
EuPathDBiHostDB:ENSG00000136997.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MYC

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0007784
HGNCiHGNC:7553 MYC
HPAiCAB000084
CAB010307
HPA055893
HPA066556
MalaCardsiMYC
MIMi113970 phenotype
190080 gene
neXtProtiNX_P01106
OpenTargetsiENSG00000136997
Orphaneti543 Burkitt lymphoma
480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
99861 Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA31353

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFSM Eukaryota
ENOG41124Q3 LUCA
GeneTreeiENSGT00940000155285
HOGENOMiHOG000043075
HOVERGENiHBG000472
InParanoidiP01106
KOiK04377
PhylomeDBiP01106
TreeFamiTF106001

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000136997-MONOMER
ReactomeiR-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promoters
R-HSA-5687128 MAPK6/MAPK4 signaling
R-HSA-5689880 Ub-specific processing proteases
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
R-HSA-69202 Cyclin E associated events during G1/S transition
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry
R-HSA-8866911 TFAP2 (AP-2) family regulates transcription of cell cycle factors
R-HSA-8951430 RUNX3 regulates WNT signaling
R-HSA-9018519 Estrogen-dependent gene expression
SignaLinkiP01106
SIGNORiP01106

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MYC human
EvolutionaryTraceiP01106

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Myc

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4609

Protein Ontology

More...
PROi
PR:P01106

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136997 Expressed in 216 organ(s), highest expression level in thoracic mammary gland
CleanExiHS_MYC
ExpressionAtlasiP01106 baseline and differential
GenevisibleiP01106 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR003327 Myc-LZ
IPR002418 Tscrpt_reg_Myc
IPR012682 Tscrpt_reg_Myc_N
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF02344 Myc-LZ, 1 hit
PF01056 Myc_N, 1 hit
PIRSFiPIRSF001705 Myc_protein, 1 hit
PRINTSiPR00044 LEUZIPPRMYC
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMYC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P01106
Secondary accession number(s): A8WFE7, P01107, Q14026
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: August 13, 1987
Last modified: December 5, 2018
This is version 239 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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