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Aliases for MXI1 Gene

Aliases for MXI1 Gene

  • MAX Interactor 1, Dimerization Protein 2 3 5
  • Class C Basic Helix-Loop-Helix Protein 11 3 4
  • BHLHc11 3 4
  • Max-Related Transcription Factor 3
  • MAX Dimerization Protein 2 3
  • MAX Interacting Protein 1 2
  • Max-Interacting Protein 1 3
  • MAX Interactor 1 2
  • Max Interactor 1 4
  • MAD2 3
  • MXD2 3
  • MXI 3

External Ids for MXI1 Gene

Previous GeneCards Identifiers for MXI1 Gene

  • GC10P110863
  • GC10P111203
  • GC10P112098
  • GC10P111631
  • GC10P111957
  • GC10P105597

Summaries for MXI1 Gene

Entrez Gene Summary for MXI1 Gene

  • Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]

GeneCards Summary for MXI1 Gene

MXI1 (MAX Interactor 1, Dimerization Protein) is a Protein Coding gene. Diseases associated with MXI1 include Prostate Cancer and Neurofibrosarcoma. Among its related pathways are Hematopoietic Stem Cell Differentiation. GO annotations related to this gene include protein dimerization activity and transcription corepressor activity. An important paralog of this gene is MXD1.

UniProtKB/Swiss-Prot for MXI1 Gene

  • Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5-CAC[GA]TG-3. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.

Gene Wiki entry for MXI1 Gene

Additional gene information for MXI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MXI1 Gene

Genomics for MXI1 Gene

Regulatory Elements for MXI1 Gene

Enhancers for MXI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H110220 1.9 FANTOM5 Ensembl ENCODE dbSUPER 40.8 +14.4 14420 2.8 PKNOX1 ATF1 ARNT FEZF1 BRCA1 ZNF2 TCF12 ZNF766 GLIS2 ELK1 MXI1 SMNDC1 BBIP1 ADD3 LOC105378480 ENSG00000228417
GH10H110206 1.8 FANTOM5 ENCODE dbSUPER 23 +2.6 2574 6.4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MXI1 RPL7P35 PHB2P1 SMNDC1 ADD3 ENSG00000228417 LOC105378480
GH10H110269 1.4 Ensembl ENCODE dbSUPER 17.8 +62.2 62209 1.7 ELF3 FOXA2 ARID4B FEZF1 RAD21 YY1 SCRT2 CREM MIXL1 ZHX2 MXI1 ENSG00000228417 SMNDC1 BBIP1 ENSG00000214067
GH10H110273 1.4 Ensembl ENCODE dbSUPER 17.3 +66.4 66425 1.7 TBL1XR1 INSM2 BATF ZEB1 ZSCAN5C ZNF207 ATF7 RUNX3 CREM IKZF2 MXI1 ENSG00000228417 SMNDC1 ENSG00000214067
GH10H110280 1.3 Ensembl ENCODE dbSUPER 16.9 +71.9 71877 0.6 HDGF CTCF ARID4B FEZF1 ZNF2 RAD21 RFX5 YY1 ZNF664 CC2D1A MXI1 ENSG00000228417 DUSP5 ENSG00000214067 SMNDC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MXI1 on UCSC Golden Path with GeneCards custom track

Promoters for MXI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for MXI1 Gene

Genomic Locations for MXI1 Gene
79,761 bases
Plus strand

Genomic View for MXI1 Gene

Genes around MXI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MXI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MXI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MXI1 Gene

Proteins for MXI1 Gene

  • Protein details for MXI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Max-interacting protein 1
    Protein Accession:
    Secondary Accessions:
    • B1ANN7
    • D3DR25
    • D3DRA9
    • Q15887
    • Q6FHW2
    • Q96E53

    Protein attributes for MXI1 Gene

    228 amino acids
    Molecular mass:
    26062 Da
    Quaternary structure:
    • Interacts with SMC3 (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with RNF17 (By similarity).

    Alternative splice isoforms for MXI1 Gene


neXtProt entry for MXI1 Gene

Post-translational modifications for MXI1 Gene

  • Ubiquitination at posLast=125125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MXI1 Gene

Domains & Families for MXI1 Gene

Gene Families for MXI1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MXI1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MXI1: view

No data available for UniProtKB/Swiss-Prot for MXI1 Gene

Function for MXI1 Gene

Molecular function for MXI1 Gene

GENATLAS Biochemistry:
Max interactor 1,key component of the mitotic checkpoint,induced during terminal differentiation,interacting with Max to bind Myc-Max recognition E box sites through interaction between the N terminus and SIN3 corepressor,antagonizing MYC dependent activation and repressing the c-Myc promoter P2,MYC family (see TSG10A),commonly mutated or deleted in prostate carcinoma
UniProtKB/Swiss-Prot Function:
Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5-CAC[GA]TG-3. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.

Phenotypes From GWAS Catalog for MXI1 Gene

Gene Ontology (GO) - Molecular Function for MXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 contributes_to RNA polymerase II regulatory region sequence-specific DNA binding IDA 8425219
GO:0001227 contributes_to transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IC --
GO:0003677 DNA binding TAS 8425219
GO:0003714 transcription corepressor activity TAS 8425219
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with MXI1: view
genes like me logo Genes that share phenotypes with MXI1: view

Animal Models for MXI1 Gene

MGI Knock Outs for MXI1:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MXI1 Gene

Localization for MXI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MXI1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MXI1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
GO:0090575 RNA polymerase II transcription factor complex IDA 8425219
genes like me logo Genes that share ontologies with MXI1: view

Pathways & Interactions for MXI1 Gene

genes like me logo Genes that share pathways with MXI1: view

Pathways by source for MXI1 Gene

1 BioSystems pathway for MXI1 Gene

Gene Ontology (GO) - Biological Process for MXI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 11875718
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008285 negative regulation of cell proliferation TAS 9624006
GO:0042994 cytoplasmic sequestering of transcription factor TAS 8425219
genes like me logo Genes that share ontologies with MXI1: view

No data available for SIGNOR curated interactions for MXI1 Gene

Drugs & Compounds for MXI1 Gene

(2) Drugs for MXI1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MXI1: view

Transcripts for MXI1 Gene

Unigene Clusters for MXI1 Gene

MAX interactor 1, dimerization protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MXI1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c
SP1: - -
SP2: -
SP3: - - - -
SP5: - - - -
SP6: - - -

Relevant External Links for MXI1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MXI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MXI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MXI1 Gene

This gene is overexpressed in Fetal gut (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MXI1 Gene

Protein tissue co-expression partners for MXI1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MXI1 Gene:


SOURCE GeneReport for Unigene cluster for MXI1 Gene:


mRNA Expression by UniProt/SwissProt for MXI1 Gene:

Tissue specificity: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.

Evidence on tissue expression from TISSUES for MXI1 Gene

  • Nervous system(4.8)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with MXI1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MXI1 Gene

Orthologs for MXI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MXI1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MXI1 33 34
  • 96.95 (n)
(Bos Taurus)
Mammalia MXI1 33 34
  • 95.76 (n)
(Canis familiaris)
Mammalia MXI1 33 34
  • 94.85 (n)
(Mus musculus)
Mammalia Mxi1 16 34 33
  • 92.43 (n)
(Rattus norvegicus)
Mammalia Mxi1 33
  • 91.4 (n)
(Monodelphis domestica)
Mammalia MXI1 34
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia MXI1 34
  • 80 (a)
(Gallus gallus)
Aves MXI1 33 34
  • 82.32 (n)
(Anolis carolinensis)
Reptilia MXI1 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mxi1 33
  • 67.12 (n)
Str.6117 33
(Danio rerio)
Actinopterygii mxi1 33 34
  • 67.52 (n)
(Caenorhabditis elegans)
Secernentea mdl-1 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2549 34
  • 37 (a)
Species where no ortholog for MXI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MXI1 Gene

Gene Tree for MXI1 (if available)
Gene Tree for MXI1 (if available)

Paralogs for MXI1 Gene

Paralogs for MXI1 Gene

(4) SIMAP similar genes for MXI1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MXI1: view

Variants for MXI1 Gene

Sequence variations from dbSNP and Humsavar for MXI1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs137852603 Pathogenic, Prostate cancer (PC) [MIM:176807] 110,280,017(+) TCAGG(A/C)GATGG reference, missense
rs137852604 Pathogenic 110,228,276(+) CCGGG(C/T)ACAGA reference, missense
rs387906417 Pathogenic 110,279,296(+) CAAGG(C/T)GAGAA splice-donor-variant
rs1000004772 -- 110,232,551(+) AATTC(A/G)TGTCC intron-variant
rs1000026769 -- 110,208,624(+) GTCTC(C/T)CTCTC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MXI1 Gene

Variant ID Type Subtype PubMed ID
nsv975803 CNV duplication 23825009
nsv951846 CNV deletion 24416366
nsv948182 CNV duplication 23825009
nsv7211 OTHER inversion 18451855
nsv524405 CNV loss 19592680
nsv1118187 CNV deletion 24896259
nsv1112596 CNV deletion 24896259
nsv1070888 CNV deletion 25765185
nsv1037615 CNV loss 25217958
esv3624538 CNV loss 21293372
esv3624536 CNV loss 21293372
esv3624535 CNV loss 21293372
esv275343 CNV loss 21479260
esv2740807 CNV deletion 23290073
esv2740795 CNV deletion 23290073
esv2673748 CNV deletion 23128226
esv2673572 CNV deletion 23128226

Variation tolerance for MXI1 Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MXI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MXI1 Gene

Disorders for MXI1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MXI1 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, hereditary, 5
  • neurosarcoma [obs]
malignant peripheral nerve sheath tumor
  • malignant neoplasm of the peripheral nerve sheath
breast adenoma
  • ademoma - breast
- elite association - COSMIC cancer census association via MalaCards
Search MXI1 in MalaCards View complete list of genes associated with diseases


  • Prostate cancer (PC) [MIM:176807]: A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269 PubMed:7773287}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for MXI1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Tumor Gene Database (TGDB):
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MXI1: view

No data available for Genatlas for MXI1 Gene

Publications for MXI1 Gene

  1. Genomic organization of human MXI1, a putative tumor suppressor gene. (PMID: 8838813) Wechsler DS … Dang CV (Genomics 1996) 3 4 22 60
  2. Expression, regulation and polymorphism of the mxi1 genes. (PMID: 8918230) Shimizu E … Simizu B (Gene 1996) 3 4 22 60
  3. Mutation of the MXI1 gene in prostate cancer. (PMID: 7773287) Eagle LR … Prochownik EV (Nature genetics 1995) 3 4 22 60
  4. Redefinition of the coding sequence of the MXI1 gene and identification of a polymorphic repeat in the 3' non-coding region that allows the detection of loss of heterozygosity of chromosome 10q25 in glioblastomas. (PMID: 7789959) Albarosa R … Finocchiaro G (Human genetics 1995) 3 4 22 60
  5. Mxi1, a protein that specifically interacts with Max to bind Myc-Max recognition sites. (PMID: 8425219) Zervos AS … Brent R (Cell 1993) 3 4 22 60

Products for MXI1 Gene

Sources for MXI1 Gene

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