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 complex... See more...

Aliases for MXD1 Gene

Aliases for MXD1 Gene

  • MAX Dimerization Protein 1 2 3 5
  • Max Dimerization Protein 1 3 4
  • Max Dimerizer 1 3 4
  • MAD 3 4
  • Antagonizer Of Myc Transcriptional Activity 3
  • MAX-Binding Protein 3
  • Protein MAD 4
  • BHLHC58 3
  • MAD1 3

External Ids for MXD1 Gene

Previous HGNC Symbols for MXD1 Gene

  • MAD

Previous GeneCards Identifiers for MXD1 Gene

  • GC02P070054
  • GC02P069995
  • GC02P069878
  • GC02P070124

Summaries for MXD1 Gene

Entrez Gene Summary for MXD1 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]

GeneCards Summary for MXD1 Gene

MXD1 (MAX Dimerization Protein 1) is a Protein Coding gene. Among its related pathways are Apoptosis and Autophagy and DAG and IP3 signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein dimerization activity. An important paralog of this gene is MXI1.

UniProtKB/Swiss-Prot Summary for MXD1 Gene

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

Gene Wiki entry for MXD1 Gene

Additional gene information for MXD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MXD1 Gene

Genomics for MXD1 Gene

GeneHancer (GH) Regulatory Elements for MXD1 Gene

Promoters and enhancers for MXD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J069911 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 793.5 +17.7 17650 7.4 SIN3A ZBTB40 SP1 CTCF ZBTB6 MLX RBPJ POLR2A CEBPZ USF2 MXD1 SNRNP27 ASPRV1 AAK1 ADD2 TIA1 CD207 PCBP1-AS1 C2orf42 CLEC4F
GH02J069897 Enhancer 0.2 dbSUPER 750.6 +0.3 260 1.2 MXD1 SNRNP27 NONHSAG028090.2 piR-56497-080
GH02J069969 Enhancer 1.4 FANTOM5 Ensembl ENCODE 47.4 +76.4 76413 13 SREBF1 FOXA1 SMARCE1 POLR2A TCF7L2 NR2F6 RUNX1 MYC ELF1 HLF piR-58584 MXD1 PCBP1-AS1 TIA1 ANTXR1 PCYOX1 C2orf42 CLEC4F FAM136A SNRNP27
GH02J069931 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 40.1 +36.3 36330 4.5 MLX RBPJ SMARCE1 NR2F6 ATF1 CREB1 MIXL1 NFYC RELA HLF MXD1 SNRNP27 ASPRV1 PCBP1 PCBP1-AS1 GMCL1 C2orf42 lnc-ASPRV1-2 RF01210-200
GH02J070067 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 35.3 +171.9 171912 5.6 CTCF FOXA1 RBPJ POLR2A NR2F1 NR2F6 CREB1 MIXL1 ZNF362 MYC MXD1 ASPRV1 PCBP1-AS1 C2orf42 SNRNP27 PCBP1 GMCL1 RN7SL470P lnc-C2orf42-8 RF00017-3229
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MXD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MXD1 gene promoter:
  • c-Myc
  • CREB
  • deltaCREB
  • Max
  • MyoD
  • Sp1

Genomic Locations for MXD1 Gene

Genomic Locations for MXD1 Gene
chr2:69,897,688-69,942,945
(GRCh38/hg38)
Size:
45,258 bases
Orientation:
Plus strand
chr2:70,124,820-70,170,077
(GRCh37/hg19)
Size:
45,258 bases
Orientation:
Plus strand

Genomic View for MXD1 Gene

Genes around MXD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MXD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MXD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MXD1 Gene

Proteins for MXD1 Gene

  • Protein details for MXD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05195-MAD1_HUMAN
    Recommended name:
    Max dimerization protein 1
    Protein Accession:
    Q05195
    Secondary Accessions:
    • B2R6V8
    • B7ZLI6
    • D6W5G2
    • Q6FI41

    Protein attributes for MXD1 Gene

    Size:
    221 amino acids
    Molecular mass:
    25254 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with RNF17 (By similarity).

    Three dimensional structures from OCA and Proteopedia for MXD1 Gene

    Alternative splice isoforms for MXD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MXD1 Gene

Post-translational modifications for MXD1 Gene

  • Ubiquitinated by BIRC2/c-IAP1, leading to its subsequent degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MXD1 Gene

No data available for DME Specific Peptides for MXD1 Gene

Domains & Families for MXD1 Gene

Gene Families for MXD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MXD1 Gene

Suggested Antigen Peptide Sequences for MXD1 Gene

GenScript: Design optimal peptide antigens:
  • MXD1 protein (B7ZLI7_HUMAN)
  • Protein MAD (MAD1_HUMAN)
genes like me logo Genes that share domains with MXD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MXD1 Gene

Function for MXD1 Gene

Molecular function for MXD1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MAD thus antagonizes MYC transcriptional activity by competing for MAX.

Phenotypes From GWAS Catalog for MXD1 Gene

Gene Ontology (GO) - Molecular Function for MXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 10723141
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 10723141
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 8425218
genes like me logo Genes that share ontologies with MXD1: view
genes like me logo Genes that share phenotypes with MXD1: view

Animal Models for MXD1 Gene

MGI Knock Outs for MXD1:

Animal Model Products

CRISPR Products

miRNA for MXD1 Gene

miRTarBase miRNAs that target MXD1

Clone Products

  • Addgene plasmids for MXD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MXD1 Gene

Localization for MXD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MXD1 Gene

Subcellular locations from

COMPARTMENTS
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 MXD1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 4
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Mitochondria (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 12837246
GO:0005634 nucleus TAS 8425218
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MXD1: view

Pathways & Interactions for MXD1 Gene

genes like me logo Genes that share pathways with MXD1: view

Pathways by source for MXD1 Gene

1 Sino Biological pathway for MXD1 Gene
1 GeneGo (Thomson Reuters) pathway for MXD1 Gene
1 Cell Signaling Technology pathway for MXD1 Gene

SIGNOR curated interactions for MXD1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 10723141
genes like me logo Genes that share ontologies with MXD1: view

Drugs & Compounds for MXD1 Gene

(2) Drugs for MXD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MXD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MXD1: view

Transcripts for MXD1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for MXD1

Alternative Splicing Database (ASD) splice patterns (SP) for MXD1 Gene

No ASD Table

Relevant External Links for MXD1 Gene

GeneLoc Exon Structure for
MXD1
ECgene alternative splicing isoforms for
MXD1

Expression for MXD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MXD1 Gene

mRNA differential expression in normal tissues according to GTEx for MXD1 Gene

This gene is overexpressed in Whole Blood (x27.2) and Esophagus - Mucosa (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of MXD1 Gene:

MXD1

SOURCE GeneReport for Unigene cluster for MXD1 Gene:

Hs.468908

Evidence on tissue expression from TISSUES for MXD1 Gene

  • Lung(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with MXD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MXD1 Gene

Orthologs for MXD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MXD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MXD1 33 32
  • 99.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MXD1 33
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MXD1 33 32
  • 93.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MXD1 33 32
  • 89.74 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mxd1 32
  • 84.09 (n)
mouse
(Mus musculus)
Mammalia Mxd1 17 33 32
  • 82.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MXD1 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves MXD1 33 32
  • 70.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MXD1 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730541 32
  • 74.43 (n)
zebrafish
(Danio rerio)
Actinopterygii mxd1 33 32
  • 70.67 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mdl-1 33
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2549 33
  • 36 (a)
OneToMany
Species where no ortholog for MXD1 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 MXD1 Gene

ENSEMBL:
Gene Tree for MXD1 (if available)
TreeFam:
Gene Tree for MXD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MXD1: view image

Paralogs for MXD1 Gene

Paralogs for MXD1 Gene

(5) SIMAP similar genes for MXD1 Gene using alignment to 4 proteins:

  • MAD1_HUMAN
  • B7ZLI7_HUMAN
  • C9JBE8_HUMAN
  • F8WBI0_HUMAN
genes like me logo Genes that share paralogs with MXD1: view

Variants for MXD1 Gene

Sequence variations from dbSNP and Humsavar for MXD1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000250393 -- 69,930,735(+) A/G intron_variant
rs1000417667 -- 69,928,958(+) A/G intron_variant
rs1000602907 -- 69,924,016(+) A/G intron_variant
rs1000615661 -- 69,929,240(+) C/A intron_variant
rs1000646801 -- 69,929,079(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MXD1 Gene

Variant ID Type Subtype PubMed ID
nsv834254 CNV gain 17160897

Variation tolerance for MXD1 Gene

Residual Variation Intolerance Score: 30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MXD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MXD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MXD1 Gene

Disorders for MXD1 Gene

Additional Disease Information for MXD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MXD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MXD1 Gene

Publications for MXD1 Gene

  1. c-IAP1 cooperates with Myc by acting as a ubiquitin ligase for Mad1. (PMID: 18082613) Xu L … Yuan J (Molecular cell 2007) 3 4 23 56
  2. Assignment of the human MAD and MXI1 genes to chromosomes 2p12-p13 and 10q24-q25. (PMID: 7829091) Shapiro DN … Prochownik EV (Genomics 1994) 2 3 23 56
  3. Mad: a heterodimeric partner for Max that antagonizes Myc transcriptional activity. (PMID: 8425218) Ayer DE … Eisenman RN (Cell 1993) 3 4 23 56
  4. Chromatin remodeling: recruitment of histone demethylase RBP2 by Mad1 for transcriptional repression of a Myc target gene, telomerase reverse transcriptase. (PMID: 19762557) Ge Z … Xu D (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010) 3 23 56
  5. The suppression of MAD1 by AKT-mediated phosphorylation activates MAD1 target genes transcription. (PMID: 19526459) Chou CK … Hung MC (Molecular carcinogenesis 2009) 3 23 56

Products for MXD1 Gene

Sources for MXD1 Gene