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Aliases for MXD1 Gene

Aliases for MXD1 Gene

  • MAX Dimerization Protein 1 2 3 5
  • 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
  • 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. Diseases associated with MXD1 include ileum cancer. Among its related pathways are Regulation of Telomerase and DAG and IP3 signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is MXI1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MXD1 Gene

Genomics for MXD1 Gene

Regulatory Elements for MXD1 Gene

Genomic Location for MXD1 Gene

Chromosome:
2
Start:
69,897,688 bp from pter
End:
69,942,945 bp from pter
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

Proteomics data for MXD1 Gene at MOPED

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MXD1 (Mad1)

No data available for DME Specific Peptides for MXD1 Gene

Domains & Families for MXD1 Gene

Protein Domains for MXD1 Gene

Suggested Antigen Peptide Sequences for MXD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q05195

UniProtKB/Swiss-Prot:

MAD1_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with MXD1: view

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.

Gene Ontology (GO) - Molecular Function for MXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 10723141
GO:0005515 protein binding IPI 17418410
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

miRNA for MXD1 Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for MXD1 Gene COMPARTMENTS Subcellular localization image for MXD1 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for MXD1 Gene

Pathways & Interactions for MXD1 Gene

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

Pathways by source for MXD1 Gene

SIGNOR curated interactions for MXD1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MXD1 Gene

None

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

Unigene Clusters for MXD1 Gene

MAX dimerization protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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).

SOURCE GeneReport for Unigene cluster for MXD1 Gene Hs.468908

genes like me logo Genes that share expression patterns with MXD1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MXD1 35
  • 93.97 (n)
  • 96.38 (a)
MXD1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MXD1 35
  • 89.74 (n)
  • 91.35 (a)
MXD1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mxd1 35
  • 82.19 (n)
  • 87.67 (a)
Mxd1 16
Mxd1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MXD1 35
  • 99.85 (n)
  • 100 (a)
MXD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mxd1 35
  • 84.09 (n)
  • 88.18 (a)
oppossum
(Monodelphis domestica)
Mammalia MXD1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MXD1 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves MXD1 35
  • 70.86 (n)
  • 71.86 (a)
MXD1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MXD1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730541 35
  • 74.43 (n)
  • 81.07 (a)
zebrafish
(Danio rerio)
Actinopterygii mxd1 35
  • 70.67 (n)
  • 76.5 (a)
mxd1 36
  • 72 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mdl-1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2549 36
  • 36 (a)
OneToMany
Species with no ortholog for MXD1:
  • 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)

Paralogs for MXD1 Gene

Paralogs for MXD1 Gene

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

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 Sequence Context AA Info Type
rs726920 -- 69,924,895(-) ATTTA(C/G)AATCT intron-variant
rs897119 -- 69,933,526(+) TGTGC(C/T)ATTAC intron-variant
rs897120 -- 69,933,850(+) AACCT(A/G)TAAGG intron-variant
rs897122 -- 69,913,139(+) TAAAC(C/T)ACCTT upstream-variant-2KB
rs1454498 -- 69,922,093(+) AATAT(A/C)ATTGG 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)

Relevant External Links for MXD1 Gene

HapMap Linkage Disequilibrium report
MXD1

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

Disorders for MXD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MXD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ileum cancer
  • ileal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search MXD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MXD1

Genetic Association Database (GAD)
MXD1
Human Genome Epidemiology (HuGE) Navigator
MXD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MXD1
genes like me logo Genes that share disorders with MXD1: view

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

Publications for MXD1 Gene

  1. Assignment of the human MAD and MXI1 genes to chromosomes 2p12-p13 and 10q24-q25. (PMID: 7829091) Shapiro D.N. … Prochownik E.V. (Genomics 1994) 2 3 23 67
  2. 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 J. 2010) 3 23
  3. The suppression of MAD1 by AKT-mediated phosphorylation activates MAD1 target genes transcription. (PMID: 19526459) Chou C.K. … Hung M.C. (Mol. Carcinog. 2009) 3 23
  4. TGF-beta enforces senescence in Myc-transformed hematopoietic tumor cells through induction of Mad1 and repression of Myc activity. (PMID: 19766114) Wu S. … Larsson L.G. (Exp. Cell Res. 2009) 3 23
  5. Inhibition of apoptosis by MAD1 is mediated by repression of the PTEN tumor suppressor gene. (PMID: 17998413) Rottmann S. … LA1scher B. (FASEB J. 2008) 3 23

Products for MXD1 Gene

Sources for MXD1 Gene

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