MAX
Protein max
Also known as: bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8, MAX_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P61244
- Gene
- MAX
- Ensembl
- ENSG00000125952
- Chromosome
- 14
- Canonical length
- 160 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Golgi apparatus
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
160 residues, UniProt reviewed canonical sequence.
>P61244|MAX
1 MSDNDDIEVE SDEEQPRFQS AADKRAHHNA LERKRRDHIK DSFHSLRDSV PSLQGEKASR
61 AQILDKATEY IQYMRRKNHT HQQDIDDLKR QNALLEQQVR ALEKARSSAQ LQTNYPSSDN
121 SLYTNAKGST ISAFDGGSDS SSESEPEEPQ SRKKLRMEASLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MAX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 99 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 99 nTPM
- cerebellum: 72 nTPM
- esophagus: 70 nTPM
- vagina: 64 nTPM
- spleen: 64 nTPM
- fallopian tube: 62 nTPM
Single-cell type
- platelets: 1,720 nCPM
- esophageal apical cells: 764 nCPM
- megakaryocytes: 383 nCPM
- neutrophils: 293 nCPM
- neutrophil progenitors: 262 nCPM
- esophageal suprabasal cells: 233 nCPM
Immune cell
- basophil: 670 nTPM
- eosinophil: 542 nTPM
- total PBMC: 314 nTPM
- neutrophil: 307 nTPM
- T-reg: 195 nTPM
- naive CD4 T-cell: 152 nTPM
Brain region
- cerebellum: 103 nTPM
- medulla oblongata: 86 nTPM
- white matter: 82 nTPM
- pons: 80 nTPM
- basal ganglia: 78 nTPM
- thalamus: 78 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MAX.
Disease | AllUniProt
Conditions MAX is implicated in, by any mechanism.
- Pheochromocytoma (PCC) MIM:171300
- Polydactyly-macrocephaly syndrome (PDMCS) MIM:620712
Disease | GeneticClinVar
54 pathogenic / likely-pathogenic of 638 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.46
- gnomAD pLI
- 0.83
- gnomAD missense Z
- 1.81
- DepMap mean gene effect
- -0.84
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- negative regulation of transcription by RNA polymerase II
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription factor binding
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- E-box binding
- identical protein binding
- protein dimerization activity
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MAX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MAX as an antibody target. Whether an autoantibody or antibody against MAX could matter depends on whether native MAX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MAX is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MAX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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