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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 C-MYC pathway and TGF-beta Signaling Pathways. 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 | NAS | 19274049 |
GO:0001227 | contributes_to DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 8521822 |
GO:0003677 | DNA binding | IMP | 9399572 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA | 12837246 |
GO:0005634 | nucleus | IBA,IDA | 15358760 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0016605 | PML body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | CDK-mediated phosphorylation and removal of Cdc6 |
.78
|
|
2 | MAPK signaling pathway | ||
3 | ERK Signaling |
ERK Signaling
.61
|
Molecular Mechanisms of Cancer
.51
|
4 | Cell Cycle, Mitotic |
.83
|
|
5 | Mitotic G1-G1/S phases |
.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 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | MAX 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | MAX 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | MAX 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | MAX 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Max 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Max 32 |
|
||
chicken (Gallus gallus) |
Aves | MAX 33 32 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | max 32 |
|
||
Str.4058 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | max-A 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | max 33 32 32 |
|
OneToOne | |
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11119 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Max 33 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | mxl-1 33 |
|
OneToMany | |
mxl-3 33 |
|
OneToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2903 33 |
|
OneToOne |
SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1060500098 | uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,093,702(-) | A/G | intron_variant | |
rs1060500099 | uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,077,940(-) | G/A/T | 5_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
rs1060500100 | uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,076,622(-) | T/A | 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs1060500101 | pathogenic, Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,077,987(-) | ATATACTGGATATAT/ATAT | 5_prime_UTR_variant, coding_sequence_variant, frameshift, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant | |
rs1060503836 | likely-benign, Hereditary Paraganglioma-Pheochromocytoma Syndromes | 65,093,777(-) | T/C | 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_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 |
|
|
catecholamine-producing tumor |
|
|