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    MXD1 MAX dimerization protein 1 [ Homo sapiens ]

    Gene ID: 4084, updated on 11-May-2012

    Summary

    Official Symbol
    MXD1provided by HGNC
    Official Full Name
    MAX dimerization protein 1provided by HGNC
    Primary source
    HGNC:6761
    See related
    Ensembl:ENSG00000059728; HPRD:02487; MIM:600021; Vega:OTTHUMG00000129646
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAD; MAD1; BHLHC58; MGC104659
    Summary
    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]

    Genomic context

    Location :
    2p13-p12
    Sequence :
    Chromosome: 2; NC_000002.11 (70142173..70170077)
    See MXD1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene germ cell-less homolog 1 (Drosophila) Neighboring gene small nuclear ribonucleoprotein 27kDa (U4/U6.U5) Neighboring gene PCBP1 antisense RNA 1 (non-protein coding) Neighboring gene aspartic peptidase, retroviral-like 1 Neighboring gene poly(rC) binding protein 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002348.1 NP_002373.3 MAX    BIND  PubMed Max interacts with Mad1. 
    Q05195 P06729 CD2    HPRD  PubMed  
    Q05195 Q92769 HDAC2    HPRD  PubMed  
    Q05195 P61244 MAX    HPRD  PubMed  
    Q05195 Q05195 MXD1    HPRD  PubMed  
    Q05195 P01106 MYC    HPRD  PubMed  
    Q05195 P12524 MYCL1    HPRD  PubMed  
    Q05195 P04198 MYCN    HPRD  PubMed  
    Q05195 P29590 PML    HPRD  PubMed  
    Q05195 Q96QH2 PRAM1    HPRD  PubMed  
    Q05195 O75446 SAP30    HPRD  PubMed  
    Q05195 Q96ST3 SIN3A    HPRD  PubMed  
    Q05195 O75182 SIN3B    HPRD  PubMed  
    Q05195 Q9UQE7 SMC3    HPRD  PubMed  
    BioGRID:110259 BioGRID:106710 AKT1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:110259 BioGRID:109315 HDAC1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110259 BioGRID:109316 HDAC2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110259 BioGRID:111862 KDM5A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110259 BioGRID:110319 MAX    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid 
    BioGRID:110259 BioGRID:112805 MLX    BioGRID  PubMed Two-hybrid 
    BioGRID:110259 BioGRID:112109 RPS6KA1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110259 BioGRID:112112 RPS6KB1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110259 BioGRID:114346 SAP30    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110259 BioGRID:117439 SIN3A    BioGRID  PubMed Co-crystal Structure; Reconstituted Complex 
    BioGRID:110259 BioGRID:114574 SMC3    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:110259 BioGRID:203256 Sin3a    BioGRID  PubMed Far Western; Reconstituted Complex 
    BioGRID:110259 BioGRID:203257 Sin3b    BioGRID  PubMed Co-crystal Structure; Reconstituted Complex; Two-hybrid 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription cofactor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription corepressor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organismal development TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of transcription, DNA-dependent TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    max dimerization protein 1
    Names
    max dimerization protein 1
    max dimerizer 1
    MAX-binding protein
    antagonizer of myc transcriptional activity

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001202513.1NP_001189442.1  max dimerization protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC019206, BC098396, BC143832, DC347823
      UniProtKB/TrEMBL
      B7ZLI7
      UniProtKB/Swiss-Prot
      Q05195
      Conserved Domains (1) summary
      cd00083
      Location:60110
      Blast Score: 102
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    2. NM_001202514.1NP_001189443.1  max dimerization protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC019206, BC098396, BC143831, DB445256, DC347823
      Consensus CDS
      CCDS56123.1
      UniProtKB/Swiss-Prot
      Q05195
      Related
      ENSP00000443935, ENST00000540449
      Conserved Domains (1) summary
      cl00081
      Location:60100
      Blast Score: 77
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    3. NM_002357.3NP_002348.1  max dimerization protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC019206, BC098396, DC347823
      Consensus CDS
      CCDS1896.1
      UniProtKB/Swiss-Prot
      Q05195
      Related
      ENSP00000264444, OTTHUMP00000160049, ENST00000264444, OTTHUMT00000251845
      Conserved Domains (1) summary
      cd00083
      Location:60110
      Blast Score: 102
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      70142173..70170077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      69878174..69906081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC019206.4 AAY14867.1
    genomic CH471053.2 EAW99838.1
      EAW99839.1
    mRNA AK301088.1 BAH13406.1
    mRNA AK312734.1 BAG35605.1
    mRNA BC036402.2 None
    mRNA BC051693.1 None
    mRNA BC069377.1 AAH69377.1
    mRNA BC069433.1 AAH69433.1
    mRNA BC098396.1 AAH98396.1
    mRNA BC113531.1 AAI13532.1
    mRNA BC117260.1 AAI17261.1
    mRNA BC143831.1 AAI43832.1
    mRNA BC143832.1 AAI43833.1
    mRNA BC144601.1 None
    mRNA CR536495.1 CAG38734.1
    mRNA CR541692.1 CAG46493.1
    mRNA DB445256.1 None
    mRNA DC347823.1 None
    mRNA L06895.1 AAA36194.1
    other-genetic HQ258749.1 ADR83500.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05195.1 GenPept UniProtKB/Swiss-Prot:Q05195

      Supplemental Content

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