MXD1
Max dimerization protein 1
Also known as: bHLHc58, MAD, MAD1, MAD1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q05195
- Gene
- MXD1
- Ensembl
- ENSG00000059728
- Chromosome
- 2
- Canonical length
- 221 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Mitochondria,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Canonical amino-acid sequenceUniProt
221 residues, UniProt reviewed canonical sequence.
>Q05195|MXD1
1 MAAAVRMNIQ MLLEAADYLE RREREAEHGY ASMLPYNNKD RDALKRRNKS KKNNSSSRST
61 HNEMEKNRRA HLRLCLEKLK GLVPLGPESS RHTTLSLLTK AKLHIKKLED CDRKAVHQID
121 QLQREQRHLK RQLEKLGIER IRMDSIGSTV SSERSDSDRE EIDVDVESTD YLTGDLDWSS
181 SSVSDSDERG SMQSLGSDEG YSSTSIKRIK LQDSHKACLG LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MXD1 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)
- 0.59
- Highest tissue expression
- 164 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 164 nTPM
- esophagus: 126 nTPM
- vagina: 49 nTPM
- small intestine: 41 nTPM
- cervix: 38 nTPM
- appendix: 38 nTPM
Single-cell type
- esophageal apical cells: 5,212 nCPM
- neutrophils: 4,651 nCPM
- enterocytes: 696 nCPM
- monocytes: 679 nCPM
- colonocytes: 639 nCPM
- neutrophil progenitors: 601 nCPM
Immune cell
- neutrophil: 499 nTPM
- basophil: 125 nTPM
- eosinophil: 106 nTPM
- classical monocyte: 10 nTPM
- intermediate monocyte: 6.4 nTPM
- non-classical monocyte: 5.5 nTPM
Brain region
- cerebral cortex: 34 nTPM
- thalamus: 24 nTPM
- white matter: 22 nTPM
- cerebellum: 21 nTPM
- pons: 18 nTPM
- hypothalamus: 17 nTPM
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)
- 0.67
- gnomAD pLI
- 0.23
- gnomAD missense Z
- 1.22
- DepMap mean gene effect
- 0.15
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- protein dimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Myc-type, basic helix-loop-helix (bHLH) domain
- Helix-loop-helix DNA-binding domain superfamily
- Helix-loop-helix DNA-binding domain
- Max dimerization protein 1, basic Helix-Loop-Helix-zipper domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MXD1 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 MXD1 as an antibody target. Whether an autoantibody or antibody against MXD1 could matter depends on whether native MXD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MXD1 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 MXD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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