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The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
MAX (MYC Associated Factor X) is a Protein Coding gene. Diseases associated with MAX include Pheochromocytoma and Hereditary Paraganglioma-Pheochromocytoma Syndromes. Among its related pathways are Transcriptional misregulation in cancer and Validated targets of C-MYC transcriptional repression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | contributes_to RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 8425219 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | contributes_to DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 8521822 |
GO:0003677 | DNA binding | IDA | 9399572 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA,ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 15358760 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0016605 | PML body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.78
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2 | MAPK signaling pathway | ||
3 | P38 MAPK Signaling Pathway (sino) | ||
4 | ERK Signaling |
ERK Signaling
.61
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Molecular Mechanisms of Cancer
.51
|
5 | Cell Cycle, Mitotic |
.83
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000082 | G1/S transition of mitotic cell cycle | TAS | -- |
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 8521822 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | 8425218 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
10058-F4 | Pharma | C-Myc-Max dimerization inhibitor | 0 |
Compound | Action | Cas Number |
---|---|---|
10058-F4 | C-Myc-Max dimerization inhibitor | 403811-55-2 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||
SP2: | - | - | |||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||
SP4: | - | ||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAX 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MAX 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAX 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAX 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAX 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Max 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Max 30 |
|
||
Chicken (Gallus gallus) |
Aves | MAX 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | max 30 |
|
||
Str.4058 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | max-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | max 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11119 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Max 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mxl-1 31 |
|
OneToMany | |
mxl-3 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2903 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
647774 | Uncertain Significance: Hereditary cancer-predisposing syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,076,493(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
652863 | Pathogenic: Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,093,758(-) | CT/C | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
654236 | Uncertain Significance: Hereditary cancer-predisposing syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,076,660(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
654688 | Uncertain Significance: Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,093,741(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
658608 | Pathogenic/Likely Pathogenic: Hereditary cancer-predisposing syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,077,919(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2506970 | CNV | deletion | 19546169 |
esv2665422 | CNV | deletion | 23128226 |
esv2673460 | CNV | deletion | 23128226 |
esv2748779 | CNV | deletion | 23290073 |
esv2748787 | CNV | deletion | 23290073 |
esv2748788 | CNV | deletion | 23290073 |
esv2748789 | CNV | deletion | 23290073 |
esv3551663 | CNV | deletion | 23714750 |
esv3634761 | CNV | loss | 21293372 |
esv3634762 | CNV | loss | 21293372 |
nsv1070225 | CNV | deletion | 25765185 |
nsv1108903 | CNV | deletion | 24896259 |
nsv832816 | CNV | gain | 17160897 |
nsv952855 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pheochromocytoma |
|
|
hereditary paraganglioma-pheochromocytoma syndromes |
|
|
inherited cancer-predisposing syndrome |
|
|
paraganglioma |
|
|
malignant pheochromocytoma |
|
|